|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:DOM
WS4
PCWH
WS2E
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Hirschsprung_disease
Waardenburg syndrome type 2
Waardenburg syndrome type 4
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
SOX10 protein
|
|
gptkbp:Entrez_Gene_ID
|
6663
ENSG00000100146
|
|
gptkbp:expressedIn
|
gptkb:melanocytes
gptkb:neural_crest_cells
Schwann cells
|
|
gptkbp:fullName
|
SRY-box transcription factor 10
|
|
gptkbp:function
|
transcription factor
regulation of glial cell development
regulation of melanocyte differentiation
regulation of neural crest development
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11190
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOX10
|
|
gptkbp:interactsWith
|
gptkb:TFAP2A
gptkb:EGR2
gptkb:PAX3
|
|
gptkbp:length
|
466 amino acids (canonical isoform)
|
|
gptkbp:locatedOnChromosome
|
chromosome 22
|
|
gptkbp:molecularWeight
|
50 kDa (approximate)
|
|
gptkbp:mutationAssociatedWith
|
sensorineural hearing loss
intestinal aganglionosis
pigmentation abnormalities
|
|
gptkbp:OMIM
|
602229
|
|
gptkbp:orthologInMouse
|
gptkb:Sox10
|
|
gptkbp:orthologInZebrafish
|
sox10
|
|
gptkbp:proteinFamily
|
gptkb:SOX_family
|
|
gptkbp:regulates
|
gptkb:MITF
gptkb:MBP
gptkb:GFAP
gptkb:PLP1
gptkb:EDNRB
|
|
gptkbp:regulatoryElement
|
transactivation domain
HMG-box domain
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:transcriptionFactorClass
|
HMG-box
|
|
gptkbp:UniProtID
|
P56693
|
|
gptkbp:bfsParent
|
gptkb:SOX_gene
gptkb:SOX_proteins
gptkb:Sry-related_HMG-box_(SOX)_gene_family
|
|
gptkbp:bfsLayer
|
6
|