Nkx2-5
Gene Detail

Symbol Name ID

Nkx2-5 NK2 transcription factor related, locus 5 (Drosophila) MGI:97350

Synonyms

Csx, Nkx-2.5, Nkx2.5, tinman

Feature Type

protein coding gene

Genetic Map

Chromosome 17

13.60 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr17:26838664-26841565 bp, - strand From VEGA annotation of GRCm38   2902 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:3230  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Nkx2-5

Human homologs

Human Homolog		NKX2-5, NK2 homeobox 5
NCBI Gene ID		1482
neXtProt AC		NX_P52952
Human Synonyms		CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Human Chr (Location)		5q34; chr5:172659107-172662315 (-)  GRCh37.p10
Disease Associations		(7) Diseases Associated with Human NKX2-5

Alleles and phenotypes

All alleles(13) : Targeted(13)
 

Homozygous mutants show cardiac development arrest after looping, growth retardation, hematopoiesis and angiogenesis defects in yolk sac, and die at embryonic day 9-10. Heterozygotes also show cardiac developmental defects.

 
Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (125 annotations)

Process	adult heart development, apoptotic process involved in heart morphogenesis, ...
Component	cytoplasm, nucleus, ...
Function	chromatin binding, DNA binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (242 records)
Data Summary: Results (342)    Tissues (188)    Images (85)
Theiler Stages: 2, 3, 7, 9, 11, 12, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 25, 26, 28

Assay Type	Results
RNA in situ	246
In situ reporter (knock in)	1
Northern blot	20
RT-PCR	75

cDNA source data(23)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(50) Genomic(7) cDNA(27) Primer pair(14) Other(2)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000037537 (Evidence)
Ensembl Gene Model	ENSMUSG00000015579 (Evidence)
Entrez Gene	18091 (Evidence)
UniGene	41974
DFCI	TC1586084
DoTS	DT.484663, DT.91332806
NIA Mouse Gene Index	U037583
Consensus CDS Project	CCDS28556.1
International Mouse Knockout Project Status	Nkx2-5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037537	VEGA Gene Model | MGI Sequence Detail	2902	C57BL/6J
transcript	OTTMUST00000096774	VEGA | MGI Sequence Detail	1525	Not Applicable
polypeptide	OTTMUSP00000054102	VEGA | MGI Sequence Detail	318	Not Applicable

All sequences(21) RefSeq(2) UniProt(2)

Polymorphisms

RFLP(3) : SNPs(4 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017970	Homeobox, conserved site
InterPro	IPR001356	Homeodomain
InterPro	IPR009057	Homeodomain-like
InterPro	IPR020479	Homeodomain, metazoa
Protein Ontology	PR:000011245	homeobox protein Nkx-2.5

References

(Earliest) J:14414 Komuro I, et al., Csx: a murine homeobox-containing gene specifically expressed in the developing heart. Proc Natl Acad Sci U S A. 1993 Sep 1;90(17):8145-9
(Latest) J:195070 Luxan G, et al., Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nat Med. 2013 Feb;19(2):193-201
All references(388)

Other accession IDs

MGD-MRK-12892, MGD-MRK-2209