|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:CMPD1
SOX-9
SRY-box 9
|
|
gptkbp:associatedWith
|
gptkb:campomelic_dysplasia
sex reversal
skeletal malformations
|
|
gptkbp:discoveredBy
|
gptkb:Peter_Koopman
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
SRY-box transcription factor 9
|
|
gptkbp:Entrez_Gene_ID
|
6662
ENSG00000125398
|
|
gptkbp:expressedIn
|
gptkb:testis
embryonic development
collagen
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasRefSeqID
|
NM_000346
|
|
gptkbp:HGNC_ID
|
11192
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOX9
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
|
gptkbp:mutationAssociatedWith
|
gptkb:46,XY_sex_reversal
gptkb:campomelic_dysplasia
|
|
gptkbp:OMIM
|
608160
|
|
gptkbp:orthologInMouse
|
Sox9
|
|
gptkbp:orthologInZebrafish
|
sox9a
sox9b
|
|
gptkbp:proteinFamily
|
HMG-box domain
|
|
gptkbp:regulates
|
gptkb:ACAN
gptkb:COL2A1
gptkb:COMP
sex determination
chondrogenesis
COL11A2
cartilage matrix production
testis differentiation
|
|
gptkbp:UniProtID
|
P48436
|
|
gptkbp:bfsParent
|
gptkb:SOX_gene
gptkb:SOX_proteins
gptkb:Sry-related_HMG-box_(SOX)_gene_family
gptkb:chromosome_17
|
|
gptkbp:bfsLayer
|
6
|