Protein Description

Gene Symbol SOX9
Entrez ID 6662
Uniprot ID P48436
Description SRY-box 9
Chromosomal Location chr17: 72,121,020-72,126,420
Ontology GO ID GO Term Definition Evidence

BP

GO:0001501

skeletal system development

The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).

IMP

BP

GO:0001502

cartilage condensation

The condensation of mesenchymal cells that have been committed to differentiate into chondrocytes.

ISS

BP

GO:0001503

ossification

The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.

IEA

BP

GO:0001658

branching involved in ureteric bud morphogenesis

The process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.

IEA

BP

GO:0001708

cell fate specification

The process involved in the specification of cell identity. Once specification has taken place, a cell will be committed to differentiate down a specific pathway if left in its normal environment.

ISS

BP

GO:0001837

epithelial to mesenchymal transition

A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.

ISS

BP

GO:0001894

tissue homeostasis

A homeostatic process involved in the maintenance of an internal steady state within a defined tissue of an organism, including control of cellular proliferation and death and control of metabolic function.

ISS

BP

GO:0001934

positive regulation of protein phosphorylation

Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.

ISS

BP

GO:0001942

hair follicle development

The process whose specific outcome is the progression of the hair follicle over time, from its formation to the mature structure. A hair follicle is a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open.

ISS

BP

GO:0002053

positive regulation of mesenchymal cell proliferation

The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.

ISS

BP

GO:0002683

negative regulation of immune system process

Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process.

ISS

BP

GO:0003170

heart valve development

The progression of a heart valve over time, from its formation to the mature structure. A heart valve is a structure that restricts the flow of blood to different regions of the heart and forms from an endocardial cushion.

ISS

BP

GO:0003179

heart valve morphogenesis

The process in which the structure of a heart valve is generated and organized.

ISS

BP

GO:0003188

heart valve formation

The developmental process pertaining to the initial formation of a heart valve from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable.

IEA

BP

GO:0003203

endocardial cushion morphogenesis

The process in which the anatomical structure of the endocardial cushion is generated and organized. The endocardial cushion is a specialized region of mesenchymal cells that will give rise to the heart septa and valves.

ISS

BP

GO:0003413

chondrocyte differentiation involved in endochondral bone morphogenesis

The process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte that will contribute to the development of a bone. A chondrocyte is a polymorphic cell that forms cartilage.

IMP

BP

GO:0003415

chondrocyte hypertrophy

The growth of a chondrocyte, where growth contributes to the progression of the chondrocyte over time.

ISS

BP

GO:0006334

nucleosome assembly

The aggregation, arrangement and bonding together of a nucleosome, the beadlike structural units of eukaryotic chromatin composed of histones and DNA.

IDA

BP

GO:0006338

chromatin remodeling

Dynamic structural changes to eukaryotic chromatin occurring throughout the cell division cycle. These changes range from the local changes necessary for transcriptional regulation to global changes necessary for chromosome segregation.

IDA

BP

GO:0006366

transcription from RNA polymerase II promoter

The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

IEA

BP

GO:0006461

protein complex assembly

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

IDA

BP

GO:0007010

cytoskeleton organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.

IEA

BP

GO:0007165

signal transduction

The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

ISS

BP

GO:0007173

epidermal growth factor receptor signaling pathway

A series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.

ISS

BP

GO:0007219

Notch signaling pathway

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

IEA

BP

GO:0007283

spermatogenesis

The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis.

ISS

BP

GO:0008284

positive regulation of cell proliferation

Any process that activates or increases the rate or extent of cell proliferation.

IMP

BP

GO:0008584

male gonad development

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

IEP|IMP

BP

GO:0010564

regulation of cell cycle process

Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events.

IMP

BP

GO:0010634

positive regulation of epithelial cell migration

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

IMP

BP

GO:0014032

neural crest cell development

The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell.

IEA

BP

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.

ISS

BP

GO:0016337

single organismal cell-cell adhesion

The attachment of one cell to another cell via adhesion molecules, where both cells are part of the same organism.

IEA

BP

GO:0019100

male germ-line sex determination

The determination of sex and sexual phenotype in a male organism's germ line.

ISS

BP

GO:0019933

cAMP-mediated signaling

Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell.

IDA

BP

GO:0030155

regulation of cell adhesion

Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix.

IEA

BP

GO:0030198

extracellular matrix organization

A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.

IEA

BP

GO:0030279

negative regulation of ossification

Any process that stops, prevents, or reduces the frequency, rate or extent of bone formation.

ISS

BP

GO:0030502

negative regulation of bone mineralization

Any process that stops, prevents, or reduces the frequency, rate or extent of bone mineralization.

IEA

BP

GO:0030850

prostate gland development

The process whose specific outcome is the progression of the prostate gland over time, from its formation to the mature structure. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.

IEP

BP

GO:0030857

negative regulation of epithelial cell differentiation

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

IEA

BP

GO:0030858

positive regulation of epithelial cell differentiation

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

ISS

BP

GO:0030879

mammary gland development

The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages.

IEA

BP

GO:0030903

notochord development

The process whose specific outcome is the progression of the notochord over time, from its formation to the mature structure. The notochord is a mesoderm-derived structure located ventral of the developing nerve cord. In vertebrates, the notochord serves as a core around which other mesodermal cells form the vertebrae. In the most primitive chordates, which lack vertebrae, the notochord persists as a substitute for a vertebral column.

IEA

BP

GO:0030916

otic vesicle formation

The process resulting in the transition of the otic placode into the otic vesicle, a transient embryonic structure formed during development of the vertebrate inner ear.

ISS

BP

GO:0031018

endocrine pancreas development

The process whose specific outcome is the progression of the endocrine pancreas over time, from its formation to the mature structure. The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin.

IEA

BP

GO:0032331

negative regulation of chondrocyte differentiation

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

ISS

BP

GO:0032332

positive regulation of chondrocyte differentiation

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

IDA|IMP

BP

GO:0032808

lacrimal gland development

The process whose specific outcome is the progression of the lacrimal gland over time, from its formation to the mature structure. The lacrimal gland produces secretions that lubricate and protect the cornea of the eye.

IEA

BP

GO:0034504

protein localization to nucleus

A process in which a protein is transported to, or maintained in, a location within the nucleus.

IEA

BP

GO:0035019

somatic stem cell population maintenance

Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line.

ISS

BP

GO:0035622

intrahepatic bile duct development

The progression of the intrahepatic bile ducts over time, from their formation to the mature structure. Intrahepatic bile ducts (bile ducts within the liver) collect bile from bile canaliculi in the liver, and connect to the extrahepatic bile ducts (bile ducts outside the liver).

IEA

BP

GO:0042127

regulation of cell proliferation

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

ISS

BP

GO:0042981

regulation of apoptotic process

Any process that modulates the occurrence or rate of cell death by apoptotic process.

ISS

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.

IMP|ISS

BP

GO:0043491

protein kinase B signaling

A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.

IEA

BP

GO:0045662

negative regulation of myoblast differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.

ISS

BP

GO:0045732

positive regulation of protein catabolic process

Any process that activates or increases 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:0045892

negative regulation of transcription, DNA-templated

Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.

IMP

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|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

BP

GO:0046533

negative regulation of photoreceptor cell differentiation

Any process that stops, prevents, or reduces the frequency, rate or extent of photoreceptor cell differentiation. An example of this process is found in Drosophila melanogaster.

ISS

BP

GO:0048709

oligodendrocyte differentiation

The process in which a relatively unspecialized cell acquires the specialized features of an oligodendrocyte. An oligodendrocyte is a type of glial cell involved in myelinating the axons of neurons in the central nervous system.

IEA

BP

GO:0050679

positive regulation of epithelial cell proliferation

Any process that activates or increases the rate or extent of epithelial cell proliferation.

IEP|ISS

BP

GO:0050680

negative regulation of epithelial cell proliferation

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

ISS

BP

GO:0051216

cartilage development

The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

ISS

BP

GO:0060008

Sertoli cell differentiation

The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a Sertoli cell. A Sertoli cell is a supporting cell projecting inward from the basement membrane of seminiferous tubules.

ISS

BP

GO:0060009

Sertoli cell development

The process whose specific outcome is the progression of a Sertoli cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a Sertoli cell fate.

IEA

BP

GO:0060018

astrocyte fate commitment

The commitment of a cells to a specific astrocyte fate and its restriction to develop only into an astrocyte.

IEA

BP

GO:0060041

retina development in camera-type eye

The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.

ISS

BP

GO:0060174

limb bud formation

The process pertaining to the initial formation of a limb bud from unspecified parts. This process begins with the formation of a local condensation of mesenchyme cells within the prospective limb field, and ends when a limb bud is recognizable.

IEA

BP

GO:0060221

retinal rod cell differentiation

The process in which a relatively unspecialized cell acquires the specialized features of a retinal rod cell.

ISS

BP

GO:0060441

epithelial tube branching involved in lung morphogenesis

The process in which a highly ordered sequence of patterning events generates the branched epithelial tubes of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.

IEA

BP

GO:0060487

lung epithelial cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell that contributes to the epithelium of the lung.

IEA

BP

GO:0060517

epithelial cell proliferation involved in prostatic bud elongation

The multiplication of epithelial cells, contributing to the expansion of the primary prostatic bud.

ISS

BP

GO:0060532

bronchus cartilage development

The process whose specific outcome is the progression of lung cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

IEA

BP

GO:0060534

trachea cartilage development

The process whose specific outcome is the progression of the tracheal cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

IEA

BP

GO:0060729

intestinal epithelial structure maintenance

A tissue homeostatic process required for the maintenance of the structure of the intestinal epithelium.

ISS

BP

GO:0060784

regulation of cell proliferation involved in tissue homeostasis

Any process that modulates the frequency, rate or extent of cell proliferation resulting in the maintenance of a steady-state number of cells within a tissue.

ISS

BP

GO:0061036

positive regulation of cartilage development

Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate.

IDA

BP

GO:0061046

regulation of branching involved in lung morphogenesis

Any process that modulates the rate, frequency, or extent of the process in which a highly ordered sequence of patterning events generates the branched structures of the lung, consisting of reiterated combinations of bud outgrowth, elongation, and dichotomous subdivision of terminal units.

IEA

BP

GO:0061138

morphogenesis of a branching epithelium

The process in which the anatomical structures of a branched epithelium are generated and organized.

ISS

BP

GO:0061145

lung smooth muscle development

The process whose specific outcome is the progression of smooth muscle in the lung over time, from its formation to the mature structure.

IEA

BP

GO:0070168

negative regulation of biomineral tissue development

Any process that stops, prevents, or reduces the frequency, rate or extent of biomineral tissue development, the formation of hard tissues that consist mainly of inorganic compounds.

ISS

BP

GO:0070371

ERK1 and ERK2 cascade

An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade can also contain two additional tiers: the upstream MAP4K and the downstream MAP Kinase-activated kinase (MAPKAPK). The kinases in each tier phosphorylate and activate the kinases in the downstream tier to transmit a signal within a cell.

ISS

BP

GO:0070384

Harderian gland development

The process whose specific outcome is the progression of the Harderian gland over time, from its formation to the mature structure. The Harderian gland is an anterior orbital structure usually associated with the nictitating membrane, and produces and secretes a variety of substances to the eye, depending upon the species.

IEA

BP

GO:0071260

cellular response to mechanical stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus.

ISS

BP

GO:0071300

cellular response to retinoic acid

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.

IEP

BP

GO:0071347

cellular response to interleukin-1

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus.

IEP

BP

GO:0071364

cellular response to epidermal growth factor stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.

ISS

BP

GO:0071504

cellular response to heparin

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a heparin stimulus.

ISS

BP

GO:0071560

cellular response to transforming growth factor beta stimulus

Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus.

IDA

BP

GO:0072034

renal vesicle induction

Signaling at short range between cells of the ureteric bud terminus and the kidney mesenchyme that positively regulates the formation of the renal vesicle.

ISS

BP

GO:0072190

ureter urothelium development

The process whose specific outcome is the progression of the urothelium of the ureter over time, from its formation to the mature structure. The urothelium is an epithelium that makes up the epithelial tube of the ureter.

IEA

BP

GO:0072193

ureter smooth muscle cell differentiation

The process in which a relatively unspecialized cell acquires specialized features of a smooth muscle cell in the ureter.

IEA

BP

GO:0072197

ureter morphogenesis

The process in which the anatomical structures of the ureter are generated and organized. The ureter is a muscular tube that transports urine from the kidney to the urinary bladder.

IEA

BP

GO:0072289

metanephric nephron tubule formation

The developmental process pertaining to the initial formation of a metanephric nephron tubule from unspecified parts. A metanephric nephron tubule is an epithelial tube that is part of a nephron in the metanephros.

ISS

BP

GO:0090090

negative regulation of canonical Wnt signaling pathway

Any process that decreases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, 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.

ISS

BP

GO:0090103

cochlea morphogenesis

The process in which the cochlea is generated and organized.

ISS

BP

GO:0090184

positive regulation of kidney development

Any process that increases the rate, frequency or extent of kidney development. Kidney development is the process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and excretes the end products of body metabolism in the form of urine.

ISS

BP

GO:0090190

positive regulation of branching involved in ureteric bud morphogenesis

Any process that increases the rate, frequency or extent of branching involved in ureteric bud morphogenesis, the process in which the branching structure of the ureteric bud is generated and organized. The ureteric bud is an epithelial tube that grows out from the metanephric duct. The bud elongates and branches to give rise to the ureter and kidney collecting tubules.

ISS

BP

GO:1901203

positive regulation of extracellular matrix assembly

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

IEA

BP

GO:1902894

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

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

IDA

BP

GO:2000020

positive regulation of male gonad development

Any process that activates or increases the frequency, rate or extent of male gonad development.

IDA

BP

GO:2000138

positive regulation of cell proliferation involved in heart morphogenesis

Any process that activates or increases the frequency, rate or extent of cell proliferation involved in heart morphogenesis.

IEA

BP

GO:2000741

positive regulation of mesenchymal stem cell differentiation

Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell differentiation.

IDA

BP

GO:2000794

regulation of epithelial cell proliferation involved in lung morphogenesis

Any process that modulates the frequency, rate or extent of epithelial cell proliferation involved in lung morphogenesis.

IEA

BP

GO:2001054

negative regulation of mesenchymal cell apoptotic process

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

IEA

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:0005654

nucleoplasm

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

IDA|TAS

CC

GO:0043234

protein complex

A stable macromolecular complex composed (only) of two or more polypeptide subunits along with any covalently attached molecules (such as lipid anchors or oligosaccharide) or non-protein prosthetic groups (such as nucleotides or metal ions). Prosthetic group in this context refers to a tightly bound cofactor. The component polypeptide subunits may be identical.

IDA

CC

GO:0044798

nuclear transcription factor complex

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

IEA

MF

GO:0001046

core promoter sequence-specific DNA binding

Interacting selectively and non-covalently with a sequence of DNA that is part of a core promoter region composed of the transcription start site and binding sites for the basal transcription machinery. The transcribed region might be described as a gene, cistron, or operon.

IDA

MF

GO:0001077

transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific 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 (RNAP II) in order to activate or increase the frequency, rate or extent of transcription from the RNAP II promoter.

IDA

MF

GO:0001158

enhancer sequence-specific DNA binding

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

ISS

MF

GO:0003682

chromatin binding

Interacting selectively and non-covalently with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

IDA

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|IMP

MF

GO:0003705

transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding

Interacting selectively and non-covalently with a sequence of DNA that is in a distal enhancer region for RNA polymerase II (RNAP II) in order to modulate transcription by RNAP II.

IDA

MF

GO:0004672

protein kinase activity

Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.

ISS

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:0008013

beta-catenin binding

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

IEA

MF

GO:0034236

protein kinase A catalytic subunit binding

Interacting selectively and non-covalently with one or both of the catalytic subunits of protein kinase A.

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.

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.

IEA

MF

GO:0046982

protein heterodimerization activity

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

IEA

MF

GO:0097157

pre-mRNA intronic binding

Interacting selectively and non-covalently with an intronic sequence of a pre-messenger RNA (pre-mRNA).

IEA

Domain ID Description

IPR009071

High mobility group box domain

IPR022151

Sox developmental protein N-terminal

IPR029548

Transcription factor SOX-9

Pathway ID Pathway Term Pathway Source

hsa04024

cAMP signaling pathway

KEGG

WP2431

Spinal Cord Injury

WikiPathways

WP2064

Neural Crest Differentiation

WikiPathways

WP474

Endochondral Ossification

WikiPathways

UMLS CUI UMLS Term

C0008074

Child Development Disorders, Pervasive

C0018566

Congenital Hand Deformities

C0024667

Animal Mammary Neoplasms

C0024668

Mammary Neoplasms, Experimental

C0031900

Pierre Robin Syndrome

C0376634

Craniofacial Abnormalities

C1861922

Campomelic Dysplasia

C1861923

Acampomelic Campomelic Dysplasia

C2748895

Ovotesticular Disorders Of Sex Development

C2936419

46, Xx Testicular Disorders Of Sex Development

C2936694

Swyer Syndrome

Tissue Cell Type

appendix

glandular cells

caudate

glial cells

cerebral cortex

glial cells

colon

glandular cells

duodenum

glandular cells

endometrium

glandular cells

gallbladder

glandular cells

liver

bile duct cells

nasopharynx

respiratory epithelial cells

prostate

glandular cells

rectum

glandular cells

salivary gland

glandular cells

skin

melanocytes

small intestine

glandular cells

vagina

squamous epithelial cells

No databases found.

Pubmed ID Author Year Title

22617121

Ouandaogo et al.

2012

Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation

22951915

Haozi et al.

2012

Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome

Gene Symbol Entrez ID Uniprot ID Score

CREB1

1385

P16220

0.52

KPNB1

3837

Q14974

0.52

SOX9

6662

P48436

0.56

CREB3L4

148327

Q8TEY5

0.56

TRAF2

7186

Q12933

0.62

BTRC

8945

Q9Y297

0.63

ZBTB7A

51341

O95365

0.63

SCX

100129885

Q7RTU7

0.63

MAF

4094

O75444

0.79

MED12

9968

Q93074

0.79

HSPA1A

3303

P0DMV8

0.84

HSPA1B

3304

P0DMV9

0.84

NR5A1

2516

Q13285

0.86

UBE2I

7329

P63279

0.52

CREBBP

1387

Q92793

0.55

SPEN

23013

Q96T58

0.62

SMAD2

4087

Q15796

0.63

SMAD3

4088

P84022

0.63

ATP6V1H

51606

Q9UI12

0.63

RUNX2

860

Q13950

0.65

HERC1

8925

Q15751

0.65

EP300

2033

Q09472

0.78