|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alsoKnownAs
|
gptkb:CSX
gptkb:NKX2-5_cardiac_homeobox
gptkb:NKX2E
|
|
gptkbp:associatedWith
|
gptkb:NKX2-5-related_congenital_heart_disease
|
|
gptkbp:binds
|
gptkb:gene
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
gptkb:Eric_N._Olson
|
|
gptkbp:domain
|
homeobox domain
|
|
gptkbp:encodes
|
gptkb:Homeobox_protein_Nkx-2.5
|
|
gptkbp:Entrez_Gene_ID
|
1482
ENSG00000183072
|
|
gptkbp:expressedIn
|
embryonic development
heart
|
|
gptkbp:firstDescribed
|
1993
|
|
gptkbp:function
|
transcription factor
regulation of cardiac development
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
7830
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
NKX2-5
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
2 exons
324 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5
5q35.1
|
|
gptkbp:molecularWeight
|
35.7 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:atrial_septal_defect
gptkb:tetralogy_of_Fallot
congenital heart defects
cardiac conduction defects
|
|
gptkbp:OMIM
|
600584
|
|
gptkbp:orthologInMouse
|
gptkb:Nkx2-5
|
|
gptkbp:orthologInZebrafish
|
nkx2.5
|
|
gptkbp:proteinFamily
|
gptkb:NK2_homeobox_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
cardiac conduction system
cardiac morphogenesis
cardiac muscle differentiation
cardiac progenitor cell fate
ventricular development
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:transcriptionRegulatorOf
|
gptkb:MEF2C
gptkb:GATA4
gptkb:TBX5
gptkb:BMP2
gptkb:ANF_(NPPA)
|
|
gptkbp:UniProtID
|
Q9H2X6
|
|
gptkbp:bfsParent
|
gptkb:NKX
|
|
gptkbp:bfsLayer
|
6
|