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Nkx2-5
Gene Detail
Symbol

Name
ID
Nkx2-5
NK2 homeobox 5
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 western clawed frog; 1 zebrafish

HCOP human homology predictions: NKX2-5
Gene Tree: Nkx2-5

Human
homologs
NKX2-5, NK2 homeobox 5
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 1482
neXtProt AC: NX_P52952

Human Synonyms: CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3

Human Chr (Location): 5q34; chr5:173232104-173235312 (-)  GRCh38.p2

Disease Associations: (6) Diseases Associated with Human NKX2-5

Mutations,
alleles, and
phenotypes
All mutations/alleles(18) : Radiation induced(2) Targeted(16)
Genomic Mutations involving Nkx2-5 (2)
 
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.
 
Mutations Annotated to Human Diseases (2)   
Interactions
Nkx2-5 interacts with 49 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (133 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: (275 records)
Data Summary: Results (408)    Tissues (223)    Images (118)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 39
RNA in situ 270
In situ reporter (knock in) 2
Northern blot 20
Western blot 2
RT-PCR 75
cDNA source data(23)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA NKX2-5 ; Xenbase nkx2-5 ; ZFIN nkx2.5    NEW 
Molecular
reagents
All nucleic(51) Genomic(7) cDNA(28) 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 Phenotyping Consortium Status Nkx2-5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037537 VEGA Gene Model | MGI Sequence Detail 2902 C57BL/6J ±  kb
transcript OTTMUST00000096774 VEGA | MGI Sequence Detail 1525 Not Applicable 
polypeptide OTTMUSP00000054102 VEGA | MGI Sequence Detail 318 Not Applicable 

For the selected sequences
All sequences(23) RefSeq(4) UniProt(2)
Polymorphisms
RFLP(3) : SNPs within 2kb(54 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:221324 Dorr KM, et al., Casz1 is required for cardiomyocyte G1-to-S phase progression during mammalian cardiac development. Development. 2015 Jun 1;142(11):2037-47
All references(448)
Other
accession IDs
MGD-MRK-12892, MGD-MRK-2209

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory