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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 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; chr5:173232104-173235312 (-)  GRCh38
Disease Associations  (6) Diseases Associated with Human NKX2-5
Mutations,
alleles, and
phenotypes
All mutations/alleles(15) : Radiation induced(2) Targeted(13)
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.
 
Alleles Annotated to Human Diseases(2)   
Interactions
Nkx2-5 interacts with 49 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (131 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: (259 records)
Data Summary: Results (376)    Tissues (200)    Images (103)
Theiler Stages: 2, 3, 7, 9, 11, 12, 13, 14, 15, 16, 17, 19, 20, 21, 22, 23, 25, 26, 28
Assay TypeResults
Immunohistochemistry 9
RNA in situ 270
In situ reporter (knock in) 2
Northern blot 20
RT-PCR 75
cDNA source data(23)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(51) Genomic(7) cDNA(28) Primer pair(14) Other(2)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000037537 (Evidence)
Ensembl Gene ModelENSMUSG00000015579 (Evidence)
Entrez Gene18091 (Evidence)
UniGene41974
DFCITC1586084
DoTSDT.484663, DT.91332806
NIA Mouse Gene IndexU037583
Consensus CDS ProjectCCDS28556.1
International Mouse Knockout Project StatusNkx2-5
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:207089 Liu Y, et al., CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice. Hum Mol Genet. 2014 Apr 15;23(8):2145-56
All references(417)
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
08/12/2014
MGI 5.19
The Jackson Laboratory