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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
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:26838664-26841565 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 13.60 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    80 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97350
protein coding gene Chr17:26838664-26844995 (-)
129S1/SvImJ MGP_129S1SvImJ_G0023407
protein coding gene Chr17:26039755-26042654 (-)
A/J MGP_AJ_G0023366
protein coding gene Chr17:25242880-25245779 (-)
AKR/J MGP_AKRJ_G0023332
protein coding gene Chr17:25373458-25376357 (-)
BALB/cJ MGP_BALBcJ_G0023371
protein coding gene Chr17:25485974-25488873 (-)
C3H/HeJ MGP_C3HHeJ_G0023131
protein coding gene Chr17:25763887-25766786 (-)
C57BL/6NJ MGP_C57BL6NJ_G0023811
protein coding gene Chr17:27094306-27097207 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021286
protein coding gene Chr17:22682517-22685454 (-)
CAST/EiJ MGP_CASTEiJ_G0022632
protein coding gene Chr17:25700671-25703330 (-)
CBA/J MGP_CBAJ_G0023106
protein coding gene Chr17:28093948-28096847 (-)
DBA/2J MGP_DBA2J_G0023236
protein coding gene Chr17:24822881-24825780 (-)
FVB/NJ MGP_FVBNJ_G0023206
protein coding gene Chr17:24601264-24604163 (-)
LP/J MGP_LPJ_G0023313
protein coding gene Chr17:26295054-26297953 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023225
protein coding gene Chr17:27603525-27606424 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0023853
protein coding gene Chr17:25737347-25740356 (-)
PWK/PhJ MGP_PWKPhJ_G0022381
protein coding gene Chr17:23623259-23626304 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022199
protein coding gene Chr17:23791448-23794437 (-)
WSB/EiJ MGP_WSBEiJ_G0022695
protein coding gene Chr17:25789532-25792460 (-)



Homology
more
  • Human Ortholog
    NKX2-5, NK2 homeobox 5
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NKX2-5, NK2 homeobox 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
  • Links
    NCBI Gene ID: 1482
    neXtProt AC: NX_P52952
    UniProt: P52952

  • Chr Location
    5q35.1; chr5:173232104-173235312 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3230
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NKX2-5
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Nkx2-5 mouse models; 6 with human NKX2-5 associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 2 models
IDs
View 2 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    99 phenotypes from 10 alleles in 15 genetic backgrounds
    169 phenotypes from multigenic genotypes
    3 images
    211 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000015579 Ensembl Gene Model | MGI Sequence Detail 2902 C57BL/6J ±  kb
    transcript ENSMUST00000015723 Ensembl | MGI Sequence Detail 1525 Not Applicable  
    polypeptide ENSMUSP00000015723 Ensembl | MGI Sequence Detail 318 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 63
      Genomic 7
      cDNA 31
      Primer pair 23
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12892, MGD-MRK-2209
    References
    more
    • Summaries
      All 571
      Developmental Gene Expression 338
      Diseases 5
      Gene Ontology 63
      Phenotypes 211
    • 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:266263 Andersen P, et al., Precardiac organoids form two heart fields via Bmp/Wnt signaling. Nat Commun. 2018 Aug 7;9(1):3140

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory