gptkbp:instanceOf
|
gptkb:gene
|
gptkbp:alsoKnownAs
|
gptkb:CSX
NK2 homeobox 5
|
gptkbp:discoveredBy
|
gptkb:Eric_N._Olson
|
gptkbp:encodes
|
NK2 homeobox 5 protein
|
gptkbp:Entrez_Gene_ID
|
1482
|
gptkbp:expressedIn
|
cardiac tissue
|
gptkbp:function
|
transcription factor
|
gptkbp:hasHomeoboxDomain
|
yes
|
gptkbp:HGNC_ID
|
7830
|
https://www.w3.org/2000/01/rdf-schema#label
|
Nkx2-5
|
gptkbp:involvedIn
|
heart development
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_5_(human)
|
gptkbp:mutationAssociatedWith
|
gptkb:atrial_septal_defect
congenital heart disease
conduction system disease
|
gptkbp:OMIM
|
600584
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse
|
Nkx2-5 (mouse)
|
gptkbp:regulates
|
gptkb:MEF2C
gptkb:GATA4
gptkb:BMP2
gptkb:Myh7
gptkb:SCN5A
gptkb:beta-myosin_heavy_chain
gptkb:Mef2c
gptkb:ANF_(NPPA)
activator
Cx40
Gja1
Gja5
Pitx2
Sox9
Tbx5
Bmp2
Bmp4
cardiac-specific genes
Tbx2
Srf
Mesp2
Fgf10
connexin 43
Actc1
Bmp10
Fgf16
Fgf20
Fgf8
Hand1
Hand2
Hey1
Hey2
Irx4
Mesp1
Myh6
Myl2
Myl7
Nppa
Nppb
Shox2
Tbx1
Tbx18
Tbx20
Tbx3
Tnni3
Tnnt2
alpha-cardiac actin
cardiac myosin light chain 1
cardiac myosin light chain 2
cardiac troponin I
cardiac troponin T
connexin 40
|
gptkbp:UniProtID
|
P52952
|
gptkbp:bfsParent
|
gptkb:NKX2-5
|
gptkbp:bfsLayer
|
7
|