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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]
SOX2 (SRY-Box Transcription Factor 2) is a Protein Coding gene. Diseases associated with SOX2 include Microphthalmia, Syndromic 3 and Septooptic Dysplasia. Among its related pathways are Preimplantation Embryo and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | NAS | 7849401 |
GO:0003700 | DNA-binding transcription factor activity | NAS | 7849401 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IC,NAS | 7849401 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | TAS | 19736317 |
GO:0005737 | cytoplasm | IDA | 18027866 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Human Early Embryo Development |
Human Early Embryo Development
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|
|
2 | Cytokine Signaling in Immune system | ||
3 | Transcriptional regulation of pluripotent stem cells | ||
4 | Signaling by Wnt |
.71
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5 | Mesodermal Commitment Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,ISS | -- |
GO:0001649 | osteoblast differentiation | IDA | 18187129 |
GO:0001654 | eye development | IEP | 18285410 |
GO:0001714 | endodermal cell fate specification | IDA | 21245162 |
GO:0006325 | chromatin organization | NAS | 7849401 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
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Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
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This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOX2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOX2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOX2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sox2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sox2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SOX2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SOX2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox2 30 |
|
||
Str.6201 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18817 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sox2 30 31 |
|
OneToOne | |
wufc14d07 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | SoxN 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sox-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4045 30 |
|
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
678529 | Likely Benign: not provided | 181,712,350(+) | A/C | FIVE_PRIME_UTR_VARIANT | |
681395 | Likely Benign: not provided | 181,713,159(+) | G/A | MISSENSE_VARIANT | |
682175 | Likely Benign: not provided | 181,712,341(+) | G/T | FIVE_PRIME_UTR_VARIANT | |
691384 | Likely Pathogenic: Pyloric stenosis; Esophageal atresia | 181,713,058(+) | C/G | MISSENSE_VARIANT | |
705427 | Benign: not provided | 181,712,591(+) | C/A | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
microphthalmia, syndromic 3 |
|
|
septooptic dysplasia |
|
|
microphthalmia |
|
|
esophageal atresia |
|
|
embryonal carcinoma |
|