SOX2
Summary: This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| SRY-box 2 | MIM:184429 | Ensembl:ENSG00000181449 | HGNC:HGNC:11195 | PA36032 | 3q26.33 |
GO terms in SOX2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | ISS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0001649 | osteoblast differentiation |
| BP | IEP | GO:0001654 | eye development |
| BP | IDA | GO:0001714 | endodermal cell fate specification |
| BP | NAS | GO:0006325 | chromatin organization |
| BP | IBA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IDA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | NAS | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IDA | GO:0007050 | cell cycle arrest |
| BP | IBA | GO:0007417 | central nervous system development |
| BP | IEP | GO:0009611 | response to wounding |
| BP | IBA | GO:0009653 | anatomical structure morphogenesis |
| BP | IMP | GO:0010468 | regulation of gene expression |
| BP | TAS | GO:0019221 | cytokine-mediated signaling pathway |
| BP | NAS | GO:0021781 | glial cell fate commitment |
| BP | IEP | GO:0021983 | pituitary gland development |
| BP | IEA | GO:0021984 | adenohypophysis development |
| BP | IEA | GO:0022409 | positive regulation of cell-cell adhesion |
| BP | IBA | GO:0030154 | cell differentiation |
| BP | IBA | GO:0030182 | neuron differentiation |
| BP | IBA | GO:0030900 | forebrain development |
| BP | IEP | GO:0030900 | forebrain development |
| BP | IDA | GO:0035019 | somatic stem cell population maintenance |
| BP | IMP | GO:0035019 | somatic stem cell population maintenance |
| BP | TAS | GO:0035019 | somatic stem cell population maintenance |
| BP | IEA | GO:0042246 | tissue regeneration |
| BP | IDA | GO:0043281 | regulation of cysteine-type endopeptidase activity involved in apoptotic process |
| BP | IDA | GO:0043410 | positive regulation of MAPK cascade |
| BP | IBA | GO:0045165 | cell fate commitment |
| BP | IEA | GO:0045597 | positive regulation of cell differentiation |
| BP | ISS | GO:0045665 | negative regulation of neuron differentiation |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IBA | GO:0048839 | inner ear development |
| BP | IEP | GO:0048839 | inner ear development |
| BP | IDA | GO:0050680 | negative regulation of epithelial cell proliferation |
| BP | IDA | GO:0070848 | response to growth factor |
| BP | IDA | GO:0090090 | negative regulation of canonical Wnt signaling pathway |
| BP | ISS | GO:0097150 | neuronal stem cell population maintenance |
| CC | IBA | GO:0005634 | nucleus |
| CC | IC | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | NAS | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005667 | transcription factor complex |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005829 | cytosol |
| CC | IBA | GO:0044798 | nuclear transcription factor complex |
| MF | IEA | GO:0000976 | transcription regulatory region sequence-specific DNA binding |
| MF | IBA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IBA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IEA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0003677 | DNA binding |
| MF | NAS | GO:0003677 | DNA binding |
| MF | IDA | GO:0003700 | DNA-binding transcription factor activity |
| MF | NAS | GO:0003700 | DNA-binding transcription factor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0035198 | miRNA binding |
| MF | IDA | GO:0043565 | sequence-specific DNA binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
Gene expression in normal tissue: SOX2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SOX2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| wikipathways | WP2023 | Cell Differentiation - Index expanded |
| wikipathways | WP2406 | Cardiac Progenitor Differentiation |
| wikipathways | WP2821 | Transcriptional regulation of pluripotent stem cells |
| wikipathways | WP2853 | Endoderm Differentiation |
| wikipathways | WP2855 | Dopaminergic Neurogenesis |
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| wikipathways | WP2858 | Ectoderm Differentiation |
| wikipathways | WP3299 | let-7 inhibition of ES cell reprogramming |
| wikipathways | WP3527 | Preimplantation Embryo |
| wikipathways | WP399 | Wnt Signaling Pathway and Pluripotency |
| wikipathways | WP4066 | Interleukin-4 and 13 signaling |
| wikipathways | WP706 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-2892245 | POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation |
| reactome | R-HSA-2892247 | POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation |
| reactome | R-HSA-3769402 | Deactivation of the beta-catenin transactivating complex |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-452723 | Transcriptional regulation of pluripotent stem cells |
| reactome | R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD532 | Olaparib | 3 |
| iGMDRD523 | Cyanoquinoline, 11 | 3 |
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD307 | Manumycin A | 5 |
| iGMDRD330 | BRD4132 | 3 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 6 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD137 | Indisulam | 1 |
| iGMDRD158 | NSC141540 | 8 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD505 | Pevonedistat | 5 |
| iGMDRD472 | PF-562271 | 1 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD147 | Prima-1 | 3 |
| iGMDRD882 | CIL41 | 3 |
| iGMDRD329 | Merck60 | 1 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD781 | Sirolimus | 3 |
| iGMDRD889 | Compound 7d-cis | 1 |
| iGMDRD599 | Salermide | 3 |
| iGMDRD470 | Trametinib | 1 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD280 | CYTOCHALASIN B | 7 |
| iGMDRD679 | Bistramide A | 4 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 6 |
| iGMDRD318 | PAC-1 | 3 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD138 | PX 12 | 6 |
| iGMDRD690 | PRIMA-1MET | 6 |
| iGMDRD60 | Quinoclamine | 3 |
| iGMDRD64 | Parbendazole | 3 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD562 | Navitoclax | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SOX2
CLASSFICATION
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