SOX9 gene

GPTKB entity

Statements (54)
Predicate Object
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:testis
collagen
gptkbp:function transcription factor
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 11190
https://www.w3.org/2000/01/rdf-schema#label SOX9 gene
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:Testis-Determining_Factor
gptkb:SRY_gene
gptkb:SRY_protein
gptkb:campomelic_dysplasia
gptkbp:bfsLayer 7