|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CMPD1
SRA1
SRXY1
|
|
gptkbp:associatedWith
|
gptkb:46,XY_sex_reversal
gptkb:campomelic_dysplasia
Pierre Robin sequence
|
|
gptkbp:discoveredBy
|
gptkb:Peter_Koopman
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
SOX9 protein
|
|
gptkbp:Entrez_Gene_ID
|
6662
|
|
gptkbp:expressedIn
|
gptkb:collagen
gptkb:testis
|
|
gptkbp:function
|
gptkb:transcription_factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11190
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q24.3
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
loss-of-function
frameshift
splice-site
sex reversal
skeletal malformations
|
|
gptkbp:OMIM
|
608160
|
|
gptkbp:orthologInMouse
|
Sox9
|
|
gptkbp:proteinFamily
|
gptkb:SOX_family
HMG-box domain
|
|
gptkbp:regulates
|
gptkb:COMP_gene
gptkb:COL2A1_gene
gptkb:COL11A2_gene
sex determination
skeletal development
HMG-box
chondrogenesis
testis development
SOX5 gene
cartilage formation
FGF9 gene
SOX6 gene
ACAN gene
L-Sox5 gene
SOX10 gene
SOX8 gene
anti-Müllerian hormone (AMH) gene
cartilage extracellular matrix genes
|
|
gptkbp:UniProtID
|
P48436
|
|
gptkbp:bfsParent
|
gptkb:SRY_gene
gptkb:SRY_protein
gptkb:campomelic_dysplasia
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOX9 gene
|