Protein Description

Gene Symbol SMAD3
Entrez ID 4088
Uniprot ID P84022
Description SMAD family member 3
Chromosomal Location chr15: 67,063,763-67,195,195
Ontology GO ID GO Term Definition Evidence

BP

GO:0000122

negative regulation of transcription from RNA polymerase II promoter

Any process that stops, prevents, or reduces the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA|IMP|TAS

BP

GO:0001657

ureteric bud development

The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure.

IEA

BP

GO:0001666

response to hypoxia

Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.

IMP

BP

GO:0001701

in utero embryonic development

The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.

IEA

BP

GO:0001707

mesoderm formation

The process that gives rise to the mesoderm. This process pertains to the initial formation of the structure from unspecified parts.

IEA

BP

GO:0001756

somitogenesis

The formation of mesodermal clusters that are arranged segmentally along the anterior posterior axis of an embryo.

IEA

BP

GO:0001889

liver development

The process whose specific outcome is the progression of the liver over time, from its formation to the mature structure. The liver is an exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes.

IEA

BP

GO:0001947

heart looping

The tube morphogenesis process in which the primitive heart tube loops asymmetrically. This looping brings the primitive heart chambers into alignment preceding their future integration. Heart looping begins with dextral-looping and ends when the main regional divisions of the mature heart and primordium of the great arterial trunks become established preceeding septation.

IEA

BP

GO:0002076

osteoblast development

The process whose specific outcome is the progression of an osteoblast over time, from its formation to the mature structure. Osteoblast development does not include the steps involved in committing a cranial neural crest cell or an osteoprogenitor cell to an osteoblast fate. An osteoblast is a cell that gives rise to bone.

IEA

BP

GO:0002520

immune system development

The process whose specific outcome is the progression of an organismal system whose objective is to provide calibrated responses by an organism to a potential internal or invasive threat, over time, from its formation to the mature structure. A system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a given biological process.

IEA

BP

GO:0006351

transcription, DNA-templated

The cellular synthesis of RNA on a template of DNA.

IEA

BP

GO:0006357

regulation of transcription from RNA polymerase II promoter

Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA

BP

GO:0006810

transport

The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein.

IDA

BP

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.

IMP

BP

GO:0006955

immune response

Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.

IMP

BP

GO:0007050

cell cycle arrest

A regulatory process that halts progression through the cell cycle during one of the normal phases (G1, S, G2, M).

IMP

BP

GO:0007179

transforming growth factor beta receptor signaling pathway

A series of molecular signals initiated by the binding of an extracellular ligand to a transforming growth factor beta receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

IDA|TAS

BP

GO:0007183

SMAD protein complex assembly

The aggregation, arrangement and bonding together of a set of components to form a protein complex that contains SMAD proteins.

IDA

BP

GO:0007492

endoderm development

The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues.

IEA

BP

GO:0009880

embryonic pattern specification

The process that results in the patterns of cell differentiation that will arise in an embryo.

IEA

BP

GO:0010628

positive regulation of gene expression

Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form.

IDA

BP

GO:0010694

positive regulation of alkaline phosphatase activity

Any process that increases the frequency, rate or extent of alkaline phosphatase activity, the catalysis of the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum.

IEA

BP

GO:0010718

positive regulation of epithelial to mesenchymal transition

Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.

IDA|IMP

BP

GO:0016202

regulation of striated muscle tissue development

Any process that modulates the frequency, rate or extent of striated muscle development.

IEA

BP

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

Any process that modulates the frequency, rate or extent of activity of any TGF-beta receptor signaling pathway.

IMP

BP

GO:0019049

evasion or tolerance of host defenses by virus

Any process, either active or passive, by which a virus avoids or tolerates the effects of its host organism's defense(s). Host defenses may be induced by the presence of the virus or may be preformed (e.g. physical barriers). The host is defined as the larger of the organisms involved in a symbiotic interaction.

IDA

BP

GO:0023019

signal transduction involved in regulation of gene expression

Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another.

IEA

BP

GO:0030308

negative regulation of cell growth

Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.

IDA

BP

GO:0030335

positive regulation of cell migration

Any process that activates or increases the frequency, rate or extent of cell migration.

IEA

BP

GO:0030501

positive regulation of bone mineralization

Any process that activates or increases the frequency, rate or extent of bone mineralization.

IEA

BP

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.

TAS

BP

GO:0030878

thyroid gland development

The process whose specific outcome is the progression of the thyroid gland over time, from its formation to the mature structure. The thyroid gland is an endoderm-derived gland that produces thyroid hormone.

IEA

BP

GO:0031053

primary miRNA processing

Any process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule.

TAS

BP

GO:0032332

positive regulation of chondrocyte differentiation

Any process that activates or increases the frequency, rate or extent of chondrocyte differentiation.

IEA

BP

GO:0032731

positive regulation of interleukin-1 beta production

Any process that activates or increases the frequency, rate, or extent of interleukin-1 beta production.

IEA

BP

GO:0032909

regulation of transforming growth factor beta2 production

Any process that modulates the frequency, rate, or extent of production of transforming growth factor-beta2.

IMP

BP

GO:0032916

positive regulation of transforming growth factor beta3 production

Any process that activates or increases the frequency, rate, or extent of production of transforming growth factor-beta3.

IEA

BP

GO:0032924

activin receptor signaling pathway

A series of molecular signals initiated by the binding of an extracellular ligand to an activin receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

IMP

BP

GO:0033689

negative regulation of osteoblast proliferation

Any process that stops, prevents or reduces the rate or extent of osteoblast proliferation.

IEA

BP

GO:0035413

positive regulation of catenin import into nucleus

Any process that increases the rate, frequency or extent of the directed movement of a catenin protein from the cytoplasm into the nucleus.

IEA

BP

GO:0038092

nodal signaling pathway

A series of molecular signals initiated by the binding of a nodal protein to an activin receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.

IMP

BP

GO:0042060

wound healing

The series of events that restore integrity to a damaged tissue, following an injury.

TAS

BP

GO:0042110

T cell activation

The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.

IEA

BP

GO:0042177

negative regulation of protein catabolic process

Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.

IEA

BP

GO:0042993

positive regulation of transcription factor import into nucleus

Any process that activates or increases the frequency, rate or extent of the movement of a transcription factor from the cytoplasm to the nucleus.

IDA

BP

GO:0043066

negative regulation of apoptotic process

Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.

IEA

BP

GO:0045216

cell-cell junction organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells.

IMP

BP

GO:0045429

positive regulation of nitric oxide biosynthetic process

Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nitric oxide.

IDA

BP

GO:0045599

negative regulation of fat cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation.

IDA

BP

GO:0045668

negative regulation of osteoblast differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation.

IEA

BP

GO:0045893

positive regulation of transcription, DNA-templated

Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.

IDA

BP

GO:0045930

negative regulation of mitotic cell cycle

Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle.

IMP

BP

GO:0045944

positive regulation of transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.

IDA|IMP|TAS

BP

GO:0048340

paraxial mesoderm morphogenesis

The process in which the anatomical structures of the paraxial mesoderm are generated and organized.

IEA

BP

GO:0048589

developmental growth

The increase in size or mass of an entire organism, a part of an organism or a cell, where the increase in size or mass has the specific outcome of the progression of the organism over time from one condition to another.

IEA

BP

GO:0048617

embryonic foregut morphogenesis

The process in which the anatomical structures of the foregut are generated and organized, during the embryonic phase.

IEA

BP

GO:0048701

embryonic cranial skeleton morphogenesis

The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.

IEA

BP

GO:0050678

regulation of epithelial cell proliferation

Any process that modulates the frequency, rate or extent of epithelial cell proliferation.

IEA

BP

GO:0050728

negative regulation of inflammatory response

Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.

IEA

BP

GO:0050776

regulation of immune response

Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.

IEA

BP

GO:0050821

protein stabilization

Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.

IEA

BP

GO:0050927

positive regulation of positive chemotaxis

Any process that activates or increases the frequency, rate or extent of the directed movement of a motile cell or organism towards a higher concentration in a concentration gradient of a specific chemical.

IEA

BP

GO:0051098

regulation of binding

Any process that modulates the frequency, rate or extent of binding, the selective interaction of a molecule with one or more specific sites on another molecule.

IEA

BP

GO:0051481

negative regulation of cytosolic calcium ion concentration

Any process that decreases the concentration of calcium ions in the cytosol.

IDA

BP

GO:0051496

positive regulation of stress fiber assembly

Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.

IEA

BP

GO:0051894

positive regulation of focal adhesion assembly

Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions.

IEA

BP

GO:0060039

pericardium development

The process whose specific outcome is the progression of the pericardium over time, from its formation to the mature structure. The pericardium is a double-walled sac that contains the heart and the roots of the aorta, vena cava and the pulmonary artery.

IEA

BP

GO:0060070

canonical Wnt signaling pathway

The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.

IEA

BP

GO:0060290

transdifferentiation

The conversion of a differentiated cell of one fate into a differentiated cell of another fate without first undergoing cell division or reversion to a more primitive or stem cell-like fate.

IEA

BP

GO:0060395

SMAD protein signal transduction

The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell.

IEA

BP

GO:0061045

negative regulation of wound healing

Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.

IEA

BP

GO:0070306

lens fiber cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities.

IEA

BP

GO:0097191

extrinsic apoptotic signaling pathway

A series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with either a ligand binding to a cell surface receptor, or a ligand being withdrawn from a cell surface receptor (e.g. in the case of signaling by dependence receptors), and ends when the execution phase of apoptosis is triggered.

IMP

BP

GO:0097296

activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway

Any process that initiates the activity of an inactive cysteine-type endopeptidase involved in the apoptotic signaling pathway.

IEA

BP

GO:1901203

positive regulation of extracellular matrix assembly

Any process that activates or increases the frequency, rate or extent of extracellular matrix assembly.

IDA

BP

GO:1902895

positive regulation of pri-miRNA transcription from RNA polymerase II promoter

Any process that activates or increases the frequency, rate or extent of pri-miRNA transcription from RNA polymerase II promoter.

IMP

CC

GO:0000790

nuclear chromatin

The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome in the nucleus.

IDA

CC

GO:0005634

nucleus

A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

IDA

CC

GO:0005637

nuclear inner membrane

The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope.

IDA

CC

GO:0005654

nucleoplasm

That part of the nuclear content other than the chromosomes or the nucleolus.

IDA|TAS

CC

GO:0005667

transcription factor complex

A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

IDA

CC

GO:0005737

cytoplasm

All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

IDA

CC

GO:0005829

cytosol

The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

TAS

CC

GO:0005886

plasma membrane

The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

IEA

CC

GO:0043235

receptor complex

Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

IMP

CC

GO:0071141

SMAD protein complex

A protein complex that consists of SMAD proteins; may be homomeric or heteromeric.

IDA

CC

GO:0071144

SMAD2-SMAD3 protein complex

A heteromeric SMAD protein complex that contains SMAD2 and SMAD3.

IDA

MF

GO:0000978

RNA polymerase II core promoter proximal region sequence-specific DNA binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to a core promoter for RNA polymerase II.

IDA

MF

GO:0000983

transcription factor activity, RNA polymerase II core promoter sequence-specific

Interacting selectively and non-covalently with a specific DNA sequence in an RNA polymerase II (Pol II) core promoter, the region composed of the transcription start site and binding sites for transcription factors of the Pol II basal transcription machinery, in order to modulate transcription by Pol II. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.

IDA|IMP

MF

GO:0000987

core promoter proximal region sequence-specific DNA binding

Interacting selectively and non-covalently with a sequence of DNA that is in cis with and relatively close to the core promoter. The transcribed region might be described as a gene, cistron, or operon.

IDA

MF

GO:0000988

transcription factor activity, protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules), in order to modulate transcription. A protein binding transcription factor may or may not also interact with the template nucleic acid (either DNA or RNA) as well.

IDA

MF

GO:0001102

RNA polymerase II activating transcription factor binding

Interacting selectively and non-covalently with an RNA polymerase II transcription activating factor, a protein involved in positive regulation of transcription.

IPI

MF

GO:0003700

transcription factor activity, sequence-specific DNA binding

Interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription. The transcription factor may or may not also interact selectively with a protein or macromolecular complex.

IDA

MF

GO:0005160

transforming growth factor beta receptor binding

Interacting selectively and non-covalently with the transforming growth factor beta receptor.

IPI

MF

GO:0005515

protein binding

Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules).

IPI

MF

GO:0005518

collagen binding

Interacting selectively and non-covalently with collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%).

IEA

MF

GO:0008013

beta-catenin binding

Interacting selectively and non-covalently with the beta subunit of the catenin complex.

IEA

MF

GO:0008134

transcription factor binding

Interacting selectively and non-covalently with a transcription factor, any protein required to initiate or regulate transcription.

IPI

MF

GO:0008270

zinc ion binding

Interacting selectively and non-covalently with zinc (Zn) ions.

IDA

MF

GO:0019901

protein kinase binding

Interacting selectively and non-covalently with a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

IPI

MF

GO:0019902

phosphatase binding

Interacting selectively and non-covalently with any phosphatase.

IPI

MF

GO:0030618

transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity

A TGF-beta cytoplasmic mediator that is phosphorylated by a TGFbeta receptor and complexes with a common-partner mediator. The- heterocomplex translocates to the nucleus to regulate transcription.

IDA

MF

GO:0031490

chromatin DNA binding

Interacting selectively and non-covalently with DNA that is assembled into chromatin.

IEA

MF

GO:0031625

ubiquitin protein ligase binding

Interacting selectively and non-covalently with a ubiquitin protein ligase enzyme, any of the E3 proteins.

IPI

MF

GO:0035326

enhancer binding

Interacting selectively and non-covalently with an enhancer, a transcription regulatory region that is somewhat distal from the core promoter and which enhances transcription from that promoter.

IC

MF

GO:0042803

protein homodimerization activity

Interacting selectively and non-covalently with an identical protein to form a homodimer.

IPI

MF

GO:0043130

ubiquitin binding

Interacting selectively and non-covalently with ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.

IDA

MF

GO:0043425

bHLH transcription factor binding

Interacting selectively and non-covalently with any of the basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways.

IPI

MF

GO:0043565

sequence-specific DNA binding

Interacting selectively and non-covalently with DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

IDA

MF

GO:0044212

transcription regulatory region DNA binding

Interacting selectively and non-covalently with a DNA region that regulates the transcription of a region of DNA, which may be a gene, cistron, or operon. Binding may occur as a sequence specific interaction or as an interaction observed only once a factor has been recruited to the DNA by other factors.

IDA

MF

GO:0046982

protein heterodimerization activity

Interacting selectively and non-covalently with a nonidentical protein to form a heterodimer.

IEA

MF

GO:0070410

co-SMAD binding

Interacting selectively and non-covalently with a common mediator SMAD signaling protein.

IPI

MF

GO:0070412

R-SMAD binding

Interacting selectively and non-covalently with a receptor-regulated SMAD signaling protein.

IPI

Domain ID Description

IPR001132

SMAD domain, Dwarfin-type

IPR003619

MAD homology 1, Dwarfin-type

IPR008984

SMAD/FHA domain

IPR013019

MAD homology, MH1

IPR013790

Dwarfin

IPR017855

SMAD domain-like

Pathway ID Pathway Term Pathway Source

hsa04068

FoxO signaling pathway

KEGG

hsa04110

Cell cycle

KEGG

hsa04144

Endocytosis

KEGG

hsa04310

Wnt signaling pathway

KEGG

hsa04350

TGF-beta signaling pathway

KEGG

hsa04371

Apelin signaling pathway

KEGG

hsa04390

Hippo signaling pathway

KEGG

hsa04520

Adherens junction

KEGG

hsa04550

Signaling pathways regulating pluripotency of stem cells

KEGG

hsa04659

Th17 cell differentiation

KEGG

hsa04933

AGE-RAGE signaling pathway in diabetic complications

KEGG

hsa05142

Chagas disease (American trypanosomiasis)

KEGG

hsa05161

Hepatitis B

KEGG

hsa05166

HTLV-I infection

KEGG

hsa05200

Pathways in cancer

KEGG

hsa05210

Colorectal cancer

KEGG

hsa05212

Pancreatic cancer

KEGG

hsa05220

Chronic myeloid leukemia

KEGG

hsa05321

Inflammatory bowel disease (IBD)

KEGG

WP560

TGF-beta Receptor Signaling

WikiPathways

WP3859

TGF-B Signaling in Thyroid Cells for Epithelial-Mesenchymal Transition

WikiPathways

WP3646

Hepatitis C and Hepatocellular Carcinoma

WikiPathways

WP2324

AGE/RAGE pathway

WikiPathways

WP366

TGF-beta Signaling Pathway

WikiPathways

WP34

Ovarian Infertility Genes

WikiPathways

WP710

DNA Damage Response (only ATM dependent)

WikiPathways

WP236

Adipogenesis

WikiPathways

WP2870

Extracellular vesicle-mediated signaling in recipient cells

WikiPathways

WP2857

Mesodermal Commitment Pathway

WikiPathways

WP3850

Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling

WikiPathways

WP2853

Endoderm Differentiation

WikiPathways

WP615

Senescence and Autophagy in Cancer

WikiPathways

WP1971

Integrated Cancer Pathway

WikiPathways

WP179

Cell Cycle

WikiPathways

WP3874

Canonical and Non-Canonical TGF-B signaling

WikiPathways

WP138

Androgen receptor signaling pathway

WikiPathways

WP3668

Hypothesized Pathways in Pathogenesis of Cardiovascular Disease

WikiPathways

h_g1Pathway

Cell Cycle: G1/S Check Point

BioCarta

h_nthiPathway

NFkB activation by Nontypeable Hemophilus influenzae

BioCarta

h_tob1Pathway

Role of Tob in T-cell activation

BioCarta

h_tgfbPathway

TGF beta signaling pathway

BioCarta

UMLS CUI UMLS Term

C0002949

Aneurysm, Dissecting

C0003486

Aortic Aneurysm

C0004096

Asthma

C0010068

Coronary Heart Disease

C0010346

Crohn Disease

C0018621

Hay Fever

C0021390

Inflammatory Bowel Diseases

C0023267

Fibroid Tumor

C0023890

Liver Cirrhosis

C0023891

Liver Cirrhosis, Alcoholic

C0029408

Degenerative Polyarthritis

C0042138

Uterine Neoplasms

C0376634

Craniofacial Abnormalities

C0600519

Ventricular Remodeling

C2697932

Loeys-Dietz Syndrome

C3495559

Juvenile Arthritis

Tissue Cell Type

adrenal gland

glandular cells

appendix

glandular cells

bone marrow

hematopoietic cells

bronchus

respiratory epithelial cells

caudate

neuronal cells

cerebellum

cells in molecular layer

cerebral cortex

neuronal cells

cervix, uterine

glandular cells

cervix, uterine

squamous epithelial cells

colon

glandular cells

duodenum

glandular cells

endometrium

glandular cells

esophagus

squamous epithelial cells

fallopian tube

glandular cells

gallbladder

glandular cells

lung

macrophages

lymph node

germinal center cells

lymph node

non-germinal center cells

pancreas

islets of Langerhans

rectum

glandular cells

seminal vesicle

glandular cells

skin

epidermal cells

small intestine

glandular cells

soft tissue

chondrocytes

spleen

cells in white pulp

stomach

glandular cells

testis

cells in seminiferous ducts

testis

Leydig cells

tonsil

germinal center cells

tonsil

squamous epithelial cells

urinary bladder

urothelial cells

Database Name

GWASdb

No sources found.

Gene Symbol Entrez ID Uniprot ID Score

SMAD7

4092

O15105

0.00

DVL2

1856

O14641

0.14

UBC

7316

P0CG48

0.14

BMP7

655

P18075

0.52

GLI3

2737

P10071

0.52

TGFBR2

7048

P37173

0.52

MIR140

406932

N/A

0.52

PAX8

7849

Q06710

0.55

AGL

178

P35573

0.56

APP

351

P05067

0.56

CRK

1398

P46108

0.56

EIF4B

1975

P23588

0.56

BPTF

2186

Q12830

0.56

NF1

4763

P21359

0.56

NFIA

4774

Q12857

0.56

ODC1

4953

P11926

0.56

PYGL

5836

P06737

0.56

RANBP3

8498

Q9H6Z4

0.56

STUB1

10273

Q9UNE7

0.56

XPO6

23214

Q96QU8

0.56

SIN3A

25942

Q96ST3

0.56

IL36RN

26525

Q9UBH0

0.56

UCHL5

51377

Q9Y5K5

0.56

CCDC186

55088

Q7Z3E2

0.56

KLHL9

55958

Q9P2J3

0.56

JPH1

56704

Q9HDC5

0.56

RSPH3

83861

Q86UC2

0.56

TPM3

7170

P06753

0.59

VIM

7431

P08670

0.59

WEE1

7465

P30291

0.59

NUP153

9972

P49790

0.59

ZDHHC4

55146

Q9NPG8

0.59

MYOD1

4654

P15172

0.62

PARP4

143

Q9UKK3

0.63

ANK3

288

Q12955

0.63

APOB

338

P04114

0.63

BACH1

571

O14867

0.63

DDX3X

1654

O00571

0.63

FLNA

2316

P21333

0.63

XRCC6

2547

P12956

0.63

KAT2A

2648

Q92830

0.63

GRB2

2885

P62993

0.63

CFH

3075

P08603

0.63

NR4A1

3164

P22736

0.63

HNRNPK

3190

P61978

0.63

HSPA1A

3303

P0DMV8

0.63

HSPA1B

3304

P0DMV9

0.63

ISL1

3670

P61371

0.63

LBP

3929

P18428

0.63

SMAD5

4090

Q99717

0.63

MEOX2

4223

P50222

0.63

PAPPA

5069

Q13219

0.63

PAX6

5080

P26367

0.63

PITX1

5307

P78337

0.63

PITX2

5308

Q99697

0.63

PLAG1

5324

Q6DJT9

0.63

PLAGL1

5325

Q9UM63

0.63

PLG

5340

P00747

0.63

PROX1

5629

Q92786

0.63

PSMD11

5717

O00231

0.63

RCVRN

5957

P35243

0.63

RELA

5970

Q04206

0.63

SMARCA4

6597

P51532

0.63

SMARCC1

6599

Q92922

0.63

SMARCC2

6601

Q8TAQ2

0.63

SNRNP70

6625

P08621

0.63

SOX9

6662

P48436

0.63

SRC

6714

P12931

0.63

SUV39H1

6839

O43463

0.63

TLR4

7099

O00206

0.63

ZNF184

7738

Q99676

0.63

MAFK

7975

O60675

0.63

NCOA3

8202

Q9Y6Q9

0.63

USP9X

8239

Q93008

0.63

ARID1A

8289

O14497

0.63

BLZF1

8548

Q9H2G9

0.63

TP63

8626

Q9H3D4

0.63

NCOA1

8648

Q15788

0.63

DDX3Y

8653

O15523

0.63

ARHGEF7

8874

Q14155

0.63

MCM3AP

8888

O60318

0.63

GIT2

9815

Q14161

0.63

MED24

9862

O75448

0.63

MED6

10001

O75586

0.63

TANK

10010

Q92844

0.63

RANBP9

10048

Q96S59

0.63

YAP1

10413

P46937

0.63

ST6GALNAC2

10610

Q9UJ37

0.63

ZMYND11

10771

Q15326

0.63

DNAJB4

11080

Q9UDY4

0.63

CORO1A

11151

P31146

0.63

PDZRN3

23024

Q9UPQ7

0.63

NCOA6

23054

Q14686

0.63

GRIP1

23426

Q9Y3R0

0.63

SS18L1

26039

O75177

0.63

RGCC

28984

Q9H4X1

0.63

TDP2

51567

O95551

0.63

DDX4

54514

Q9NQI0

0.63

ZNF83

55769

P51522

0.63

RIOK2

55781

Q9BVS4

0.63

APMAP

57136

Q9HDC9

0.63

KIAA1522

57648

Q9P206

0.63

TRIB3

57761

Q96RU7

0.63

ELAC2

60528

Q9BQ52

0.63

ZNF329

79673

Q86UD4

0.63

ZBTB3

79842

Q9H5J0

0.63

CPSF7

79869

Q8N684

0.63

SVEP1

79987

Q4LDE5

0.63

CCDC33

80125

Q8N5R6

0.63

CPTP

80772

Q5TA50

0.63

LACRT

90070

Q9GZZ8

0.63

TEKT4

150483

Q8WW24

0.63

RPSAP15

220885

N/A

0.63

KANSL1

284058

Q7Z3B3

0.63

CAMK2G

818

Q13555

0.65

ZMYM2

7750

Q9UBW7

0.65

ZNF8

7554

P17098

0.67

HGS

9146

O14964

0.67

CHUK

1147

O15111

0.68

FOXM1

2305

Q08050

0.68

MAPK8

5599

P45983

0.68

SH2D2A

9047

Q9NP31

0.68

HDAC4

9759

P56524

0.68

HDAC5

10014

Q9UQL6

0.68

CITED2

10370

Q99967

0.68

MYOCD

93649

Q8IZQ8

0.68

ACTB

60

P60709

0.70

IRF7

3665

Q92985

0.70

PRTN3

5657

P24158

0.70

HNF4A

3172

P41235

0.71

DHX8

1659

Q14562

0.72

DYRK1A

1859

Q13627

0.72

IRS1

3667

P35568

0.72

ITGB4

3691

P16144

0.72

OPA1

4976

O60313

0.72

PTPN6

5777

P29350

0.72

RPL3

6122

P39023

0.72

RPL4

6124

P36578

0.72

TCP1

6950

P17987

0.72

VAV2

7410

P52735

0.72

KDM5C

8242

P41229

0.72

SLC25A12

8604

O75746

0.72

MTMR4

9110

Q9NYA4

0.72

BUB3

9184

O43684

0.72

SLC9A3R2

9351

Q15599

0.72

DCAF7

10238

P61962

0.72

DNAJA2

10294

O60884

0.72

ATXN2L

11273

Q8WWM7

0.72

U2AF2

11338

P26368

0.72

LRCH1

23143

Q9Y2L9

0.72

SIK3

23387

Q9Y2K2

0.72

RAB11FIP5

26056

Q9BXF6

0.72

PABPC1

26986

P11940

0.72

YTHDF2

51441

Q9Y5A9

0.72

PSPC1

55269

Q8WXF1

0.72

EPB41L5

57669

Q9HCM4

0.72

CHD8

57680

Q9HCK8

0.72

SQRDL

58472

Q9Y6N5

0.72

PJA1

64219

Q8NG27

0.72

SARG

79098

Q9BW04

0.72

FAM83G

644815

A6ND36

0.72

CDK11A

728642

Q9UQ88

0.72

CSH1|CSH2

1442

P0DML2|P0DML3

0.73

CYP11A1

1583

P05108

0.73

PCDH1

5097

Q08174

0.73

RPLP0

6175

P05388

0.73

TGM2

7052

P21980

0.73

ZBTB16

7704

Q05516

0.73

SECISBP2L

9728

Q93073

0.73

EBI3

10148

Q14213

0.73

CFDP1

10428

Q9UEE9

0.73

GMEB1

10691

Q9Y692

0.73

TMED1

11018

Q13445

0.73

PRDM4

11108

Q9UKN5

0.73

MTF2

22823

Q9Y483

0.73

HEY1

23462

Q9Y5J3

0.73

C10orf54

64115

Q9H7M9

0.73

SAP130

79595

Q9H0E3

0.73

FOXO1

2308

Q12778

0.74

HIVEP1

3096

P15822

0.74

FOXO4

4303

P98177

0.74

SPTBN1

6711

Q01082

0.74

ZEB1

6935

P37275

0.74

RBX1

9978

P62877

0.74

CEBPA

1050

P49715

0.75

HSPA4

3308

P34932

0.75

SREBF2

6721

Q12772

0.75

CUL1

8454

Q13616

0.75

HIPK2

28996

Q9H2X6

0.75

EPAS1

2034

Q99814

0.76

MDM4

4194

O15151

0.76

PCK2

5106

Q16822

0.76

CHRD

8646

Q9H2X0

0.76

DOCK9

23348

Q9BZ29

0.76

SETD2

29072

Q9BYW2

0.76

RNF31

55072

Q96EP0

0.76

PARD3

56288

Q8TEW0

0.76

ZC3H12A

80149

Q5D1E8

0.76

TSC22D4

81628

Q9Y3Q8

0.76

CSNK1G2

1455

P78368

0.77

PARD3B

117583

Q8TEW8

0.77

CEBPD

1052

P49716

0.78

HDAC1

3065

Q13547

0.78

TGFBR1

7046

P36897

0.78

BRCA2

675

P51587

0.79

ATF2

1386

P15336

0.79

E2F4

1874

Q16254

0.79

KPNB1

3837

Q14974

0.79

MYC

4609

P01106

0.79

CTCF

10664

P49711

0.80

NEDD4

4734

P46934

0.81

USP15

9958

Q9Y4E8

0.81

RUNX1

861

Q01196

0.82

SMAD9

4093

O15198

0.82

KAT2B

8850

Q92831

0.82

CDC27

996

P30260

0.83

CSNK1D

1453

P48730

0.83

MEN1

4221

O00255

0.83

BTRC

8945

Q9Y297

0.83

WWP1

11059

Q9H0M0

0.83

RUNX3

864

Q13761

0.84

CTNNB1

1499

P35222

0.84

YY1

7528

P25490

0.84

SMURF1

57154

Q9HCE7

0.84

CEBPB

1051

P17676

0.85

LEMD3

23592

Q9Y2U8

0.85

TRIM33

51592

Q9UPN9

0.85

TFE3

7030

P19532

0.86

USP7

7874

Q93009

0.86

MAX

4149

P61244

0.87

SQSTM1

8878

Q13501

0.87

DDX5

1655

P17844

0.88

MECOM

2122

Q03112

0.88

FOXO3

2309

O43524

0.88

RBL1

5933

P28749

0.88

PIAS3

10401

Q9Y6X2

0.88

LEF1

51176

Q9UJU2

0.88

RUNX2

860

Q13950

0.89

NR3C1

2908

P04150

0.89

JUNB

3726

P17275

0.89

SMAD2

4087

Q15796

0.89

SKIL

6498

P12757

0.89

SNW1

22938

Q13573

0.89

AR

367

P10275

0.90

DAB2

1601

P98082

0.90

JUN

3725

P05412

0.90

SMAD3

4088

P84022

0.90

SMAD4

4089

Q13485

0.90

SKI

6497

P12755

0.90

WWP2

11060

O00308

0.90

NOTCH1

4851

P46531

0.95

ACVR2B

93

Q13705

0.00

CDKN2B

1030

P42772

0.00

COL1A2

1278

P08123

0.00

PPARD

5467

Q03181

0.00

AXIN1

8312

O15169

0.00

AXIN2

8313

Q9Y2T1

0.00

ACVR1C

130399

Q8NER5

0.00

CDK8

1024

P49336

0.52

CDK9

1025

P50750

0.52

ESR2

2100

Q92731

0.52

PRKAR1B

5575

P31321

0.52

PRKAR2A

5576

P13861

0.52

RIT1

6016

Q92963

0.52

TGFB1

7040

P01137

0.52

TP73

7161

O15350

0.52

HMGA2

8091

P52926

0.52

ARHGEF6

9459

Q15052

0.52

RRAS2

22800

P62070

0.52

RASD2

23551

Q96D21

0.52

RAB38

23682

P57729

0.52

RASL12

51285

Q9NYN1

0.52

GSC

145258

P56915

0.52

SKOR2

652991

Q2VWA4

0.52

MAPK14

1432

Q16539

0.55

E2F5

1875

Q15329

0.55

FOXG1

2290

P55316

0.55

YBX1

4904

P67809

0.55

MAPK9

5601

P45984

0.55

MAGI2

9863

Q86UL8

0.55

PRMT5

10419

O14744

0.55

LCK

3932

P06239

0.56

PIK3CA

5290

P42336

0.56

PIAS2

9063

O75928

0.56

ITCH

83737

Q96J02

0.56

EPB41

2035

P11171

0.59

KRT2

3849

P35908

0.59

KRT10

3858

P13645

0.59

LMNA

4000

P02545

0.59

MYO5B

4645

Q9ULV0

0.59

PAEP

5047

P09466

0.59

GTF2IRD1

9569

Q9UHL9

0.59

SF3A1

10291

Q15459

0.59

JPH3

57338

Q8WXH2

0.59

PPM1A

5494

P35813

0.62

AES

166

Q08117

0.63

FOXL2

668

P58012

0.63

KLF5

688

Q13887

0.63

LDLRAD4

753

O15165

0.63

CBL

867

P22681

0.63

CDKN1A

1026

P38936

0.63

CR1

1378

P17927

0.63

PHC2

1912

Q8IXK0

0.63

FBLN1

2192

P23142

0.63

FLI1

2313

Q01543

0.63

HOXC11

3227

O43248

0.63

HP

3240

P00738

0.63

NEDD8

4738

Q15843

0.63

NFIC

4782

P08651

0.63

PPARG

5468

P37231

0.63

RPA1

6117

P27694

0.63

TF

7018

P02787

0.63

CFLAR

8837

O15519

0.63

BAG3

9531

O95817

0.63

KDM2A

22992

Q9Y2K7

0.63

KDM6B

23135

O15054

0.63

ZCCHC14

23174

Q8WYQ9

0.63

DNAJB5

25822

O75953

0.63

GGA1

26088

Q9UJY5

0.63

AATF

26574

Q9NY61

0.63

UBQLN4

56893

Q9NRR5

0.63

MKL1

57591

Q969V6

0.63

PRDM16

63976

Q9HAZ2

0.63

RARG

5916

P13631

0.65

MAP3K7

6885

O43318

0.65

SF3B2

10992

Q13435

0.65

SERTAD1

29950

Q9UHV2

0.65

OTUB1

55611

Q96FW1

0.65

CCNT1

904

O60563

0.68

FHL1

2273

Q13642

0.68

FHL2

2274

Q14192

0.68

FHL3

2275

Q13643

0.68

S100A4

6275

P26447

0.68

ZMIZ1

57178

Q9ULJ6

0.68

ETS1

2113

P14921

0.69

SRY

6736

Q05066

0.70

NUP214

8021

P35658

0.70

TRIM62

55223

Q9BVG3

0.70

CDK2

1017

P24941

0.71

CDK4

1019

P11802

0.71

TSC2

7249

P49815

0.71

ACVR1B

91

P36896

0.72

GLI2

2736

P10070

0.72

PEX6

5190

Q13608

0.72

TCF12

6938

Q99081

0.72

DACH1

1602

Q9UI36

0.73

MBD1

4152

Q9UIS9

0.73

NFYC

4802

Q13952

0.73

PPP2R1A

5518

P30153

0.73

CDC16

8881

Q13042

0.73

KMT2B

9757

Q9UMN6

0.73

HEYL

26508

Q9NQ87

0.73

CXXC5

51523

Q7LFL8

0.73

MED15

51586

Q96RN5

0.73

TGIF2

60436

Q9GZN2

0.73

NOTCH4

4855

Q99466

0.74

JUND

3727

P17535

0.75

TOB1

10140

P50616

0.76

PPP1R12C

54776

Q9BZL4

0.76

ESR1

2099

P03372

0.77

MYD88

4615

Q99836

0.77

DEDD

9191

O75618

0.77

TGFB1I1

7041

O43294

0.78

EID2

163126

Q8N6I1

0.79

HIF1A

3091

Q16665

0.80

IL37

27178

Q9NZH6

0.80

BRCA1

672

P38398

0.81

VDR

7421

P11473

0.81

NEDD4L

23327

Q96PU5

0.81

CDC25A

993

P30304

0.83

PML

5371

P29590

0.83

TP53

7157

P04637

0.83

ZEB2

9839

O60315

0.83

EIF4ENIF1

56478

Q9NRA8

0.83

DVL1

1855

O14640

0.84

SMAD1

4086

Q15797

0.84

TGIF1

7050

Q15583

0.84

STRAP

11171

Q9Y3F4

0.84

RNF111

54778

Q6ZNA4

0.84

EP300

2033

Q09472

0.86

MAPK1

5594

P28482

0.86

FOS

2353

P01100

0.88

GSK3B

2932

P49841

0.88

ANAPC10

10393

Q9UM13

0.88

PIAS4

51588

Q8N2W9

0.88

ATF3

467

P18847

0.89

SP1

6667

P08047

0.89

AKT1

207

P31749

0.90

NEDD9

4739

Q14511

0.90

PIN1

5300

Q13526

0.90

ZFYVE9

9372

O95405

0.90

SMURF2

64750

Q9HAU4

0.90

CREBBP

1387

Q92793

0.94

FOXH1

8928

O75593

0.95

ERBB2IP

55914

Q96RT1

0.96