SOX10

Summary: 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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameSRY-box 10
OMIM IDMIM:602229
Ensembl IDEnsembl:ENSG00000100146
HGNC IDHGNC:HGNC:11190
PHARMGKB IDPA36027
Map Location22q13.1

GO terms in SOX10


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Term Type
Evidence Type
GO Term ID
GO Des.
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:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding
MF ISS GO:0003677 DNA binding
MF ISS GO:0003700 DNA-binding transcription factor activity
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Gene expression in normal tissue: SOX10

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 50undefinedtissue: undefined cancer: ADENOCARCINOMA model num: 3LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 19BLOOtissue: BLOO cancer: BLOOD model num: 0BLOODtissue: BLOOD cancer: undefined model num: 3BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 10SKItissue: SKI cancer: SKIN model num: 0SKINtissue: SKIN cancer: Melanoma (MEL) model num: 1

Gene-drug pathway distribution

undefined23Leukocyte transendothelial migration1Apoptosis regulation1Longevity regulating pathway1Purine metabolism1

Pathways in SOX10


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Database
Pathway ID
Pathway Des.
wikipathways WP2064 Neural Crest Differentiation
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD316 N9-Isopropyl-olomoucine 3
iGMDRD193 Fqi1 3
iGMDRD375 GW-405833 3
iGMDRD123 Isoevodiamine 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in SOX10

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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