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 |
|---|---|---|---|---|---|
NameSRY-box 2 OMIM IDMIM:184429 Ensembl IDEnsembl:ENSG00000181449 HGNC IDHGNC:HGNC:11195 PHARMGKB IDPA36032 Map Location3q26.33 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SOX2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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