|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:diabetes_mellitus
congenital heart defects
pancreatic agenesis
|
|
gptkbp:discoveredBy
|
gptkb:Yamamoto_et_al.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
GATA6 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000141448
2627
|
|
gptkbp:expressedIn
|
gptkb:cancer
heart
liver
pancreas
gut
|
|
gptkbp:fullName
|
GATA binding protein 6
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasZincFingerDomain
|
yes
|
|
gptkbp:HGNC_ID
|
4166
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GATA6
|
|
gptkbp:involvedIn
|
cardiac development
lung development
pancreas development
endoderm formation
|
|
gptkbp:length
|
595 amino acids
|
|
gptkbp:locatedOnChromosome
|
18q11.2
|
|
gptkbp:molecularWeight
|
60 kDa
|
|
gptkbp:mutationAssociatedWith
|
congenital diaphragmatic hernia
cardiac outflow tract defects
pancreatic agenesis
|
|
gptkbp:OMIM
|
601656
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Gata6
|
|
gptkbp:orthologInZebrafish
|
gata6a
gata6b
|
|
gptkbp:proteinFamily
|
gptkb:GATA_family
|
|
gptkbp:RefSeq
|
NM_005257
|
|
gptkbp:regulates
|
gptkb:NKX2-5
gptkb:CDH1
gptkb:FOXA2
gptkb:BMP4
gptkb:MYC
gptkb:HNF4A
gptkb:GATA_motif
gptkb:SOX17
gene expression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q92908
|
|
gptkbp:bfsParent
|
gptkb:Familial_atrial_fibrillation
|
|
gptkbp:bfsLayer
|
7
|