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 |
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 |