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Nkx2-5 Gene Detail
Summary
  • Symbol
    Nkx2-5
  • Name
    NK2 homeobox 5
  • Synonyms
    Csx, Nkx-2.5, Nkx2.5, tinman
  • Feature Type
    protein coding gene
  • IDs
    MGI:97350
    NCBI Gene: 18091
  • Gene Overview
    MyGene.info: NKX2-5
Location & Maps
more
  • Sequence Map
    Chr17:26838664-26841565 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2902 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 13.60 cM
  • Mapping Data
    7 experiments
Homology
more
  • Human Ortholog
    NKX2-5, NK2 homeobox 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NKX2-5, NK2 homeobox 5
    Orthology source: HomoloGene
  • Synonyms
    CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
  • Links
    NCBI Gene ID: 1482
    neXtProt AC: NX_P52952

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

  • HomoloGene
    Vertebrate Homology Class 3230
    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
Human Diseases
more
  • Diseases
    6 with human NKX2-5 associations
  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    80 phenotypes from 8 alleles in 13 genetic backgrounds
    129 phenotypes from multigenic genotypes
    161 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    19
  • Radiation induced
    2
  • Targeted
    17
  • Genomic Mutations
    2 involving Nkx2-5
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    80 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 55
    Genomic 7
    cDNA 29
    Primer pair 17
    Other 2

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-12892, MGD-MRK-2209
References
more
  • Summaries
    All 473
    Developmental Gene Expression 291
    Diseases 2
    Gene Ontology 63
    Phenotypes 161
  • 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:231966 Zhang H, et al., Genetic lineage tracing identifies endocardial origin of liver vasculature. Nat Genet. 2016 May;48(5):537-43

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
06/22/2016
MGI 6.04
The Jackson Laboratory