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This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]
SOX10 (SRY-Box Transcription Factor 10) is a Protein Coding gene. Diseases associated with SOX10 include Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease and Waardenburg Syndrome, Type 2E. Among its related pathways are Neural Crest Differentiation and Neural Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is SOX9.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH22J037980 | Promoter/Enhancer | 1.9 | VISTA EPDnew Ensembl ENCODE dbSUPER | 600.7 | +4.4 | 4382 | 4.1 | HNRNPL GATAD2A CTCF ZBTB33 TEAD4 ZIC2 RXRB SP1 POLR2A EZH2 | SOX10 EIF3L MIR6820 C22orf23 POLR2F | |
GH22J037985 | Promoter/Enhancer | 0.8 | VISTA Ensembl dbSUPER | 600.7 | +1.1 | 1114 | 1.4 | SOX10 APOBEC3B MIR6820 C22orf23 POLR2F | ||
GH22J037988 | Enhancer | 0.3 | dbSUPER | 600.7 | -1.7 | -1654 | 0.9 | RFX5 | MIR4534 SOX10 piR-57460-458 POLR2F PICK1 | |
GH22J037987 | Enhancer | 0.2 | dbSUPER | 600.7 | 0.0 | 0 | 0.1 | MIR4534 SOX10 MIR6820 C22orf23 POLR2F | ||
GH22J037990 | Enhancer | 0.2 | dbSUPER | 600.7 | -0.3 | -302 | 0.1 | MIR4534 SOX10 POLR2F PICK1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | ISS | -- |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0000987 | proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0001216 | bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IEA | -- |
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,ISS | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Neural Stem Cells and Lineage-specific Markers | ||
2 | Melanocyte Development and Pigmentation |
Melanocyte Development and Pigmentation
-
|
|
3 | ERK Signaling |
Molecular Mechanisms of Cancer
.51
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|
4 | Neural Crest Differentiation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001755 | neural crest cell migration | IBA | 21873635 |
GO:0002009 | morphogenesis of an epithelium | IBA | 21873635 |
GO:0002052 | positive regulation of neuroblast proliferation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Carboplatin | Approved | Pharma | Antitumor agent that forms platinum-DNA adducts., Platinum | 2588 | ||
Docetaxel | Approved, Investigational | Pharma | Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes | 2330 | ||
Paclitaxel | Approved, Vet_approved | Pharma | Tubulin and Bcl2 inhibitor, Taxanes | 3701 |
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 | SOX10 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOX10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOX10 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sox10 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sox10 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SOX10 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SOX10 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOX10 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sox10 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398422 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sox10 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Sox100B 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sox-4 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635541 | Likely Pathogenic: Waardenburg syndrome type 2E | 37,983,355(-) | A/G | SPLICE_DONOR_VARIANT,INTRON_VARIANT | |
637874 | Uncertain Significance: Charcot-Marie-Tooth disease | 37,973,859(-) | G/C | NONSENSE,INTRON_VARIANT | |
666758 | Likely Benign: not specified | 37,973,651(-) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
666759 | Likely Benign: not specified | 37,974,047(-) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
666923 | Uncertain Significance: not specified | 37,983,714(-) | G/T | MISSENSE_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease |
|
|
waardenburg syndrome, type 2e |
|
|
waardenburg syndrome, type 4c |
|
|
waardenburg syndrome, type 4a |
|
|
hirschsprung disease 1 |
|