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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    5 TSS
  • Regulated by
    Rr431 (1 regulatory region)
Location &
Maps
more
  • Sequence Map
    Chr17:27057638-27063962 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 13.60 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    262 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97350
 protein coding gene Chr17:27057638-27063983 (-)
129S1/SvImJ ENSMUSG00200048450
 protein coding gene Chr17:22503508-22509851 (-)
A/J ENSMUSG00195048984
 protein coding gene Chr17:23524102-23530451 (-)
AKR/J ENSMUSG00220050963
 protein coding gene Chr17:22566025-22572368 (-)
BALB/cJ ENSMUSG00180044756
 protein coding gene Chr17:22801611-22807954 (-)
C3H/HeJ ENSMUSG00175044876
 protein coding gene Chr17:22559850-22566198 (-)
C57BL/6NJ ENSMUSG00215052801
 protein coding gene Chr17:22568009-22574354 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0021286
 protein coding gene Chr17:22682517-22685454 (-)
CAST/EiJ ENSTCUG00005044735
 protein coding gene Chr17:23168692-23175196 (-)
CBA/J ENSMUSG00210050600
 protein coding gene Chr17:22398673-22405021 (-)
DBA/2J ENSMUSG00185037858
 protein coding gene Chr17:24612270-24618618 (-)
FVB/NJ ENSMUSG00205049206
 protein coding gene Chr17:22869388-22875731 (-)
JF1/MsJ ENSUMUG00000055711
 protein coding gene Chr17:24071745-24078272 (-)
LP/J ENSMUSG00230054562
 protein coding gene Chr17:26008007-26014350 (-)
NOD/ShiLtJ ENSMUSG00190042222
 protein coding gene Chr17:22499612-22505955 (-)
NZO/HlLtJ ENSMUSG00225051404
 protein coding gene Chr17:27937497-27944020 (-)
PWK/PhJ ENSLUMG00010053265
 protein coding gene Chr17:21985015-21991568 (-)
SPRET/EiJ ENSMSPG00010034694
 protein coding gene Chr17:23301706-23304738 (-)
WSB/EiJ ENSIUOG00005050410
 protein coding gene Chr17:23263255-23269655 (-)



Homology
more
  • Human Ortholog
    NKX2-5, NK2 homeobox 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NKX2-5, NK2 homeobox 5
  • Synonyms
    CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
  • Links
    NCBI Gene ID: 1482
    UniProt: P52952

  • Chr Location
    5q35.1; chr5:173232109-173235311 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with Nkx2-5 mouse models; 10 with human NKX2-5 associations

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

  • Mutations/Alleles
    7 with disease annotations
  • References
    10 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    134 phenotypes from 14 alleles in 19 genetic backgrounds
    215 phenotypes from multigenic genotypes
    4 images
    361 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.
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
less
  • All GO Annotations
    185
  • GO References
    65
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    1471
  • Tissues
    338
  • cDNA Data
    29
  • Literature Summary
    456
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18091 NCBI Gene Model | MGI Sequence Detail 6325 C57BL/6J ±  kb
    transcript NM_008700 RefSeq | MGI Sequence Detail 1524 ZRU/MplStud  
    polypeptide P42582 UniProt | EBI | MGI Sequence Detail 318 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 138
      Genomic 7
      cDNA 36
      Primer pair 51
      Other 44
      Antibodies 17

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12892, MGD-MRK-2209
    References
    more
    • Summaries
      All 854
      Developmental Gene Expression 456
      Diseases 10
      Gene Ontology 65
      Phenotypes 361
    • 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:392098 Feng H, et al., Ingression of the cardiac outflow tract wall is disrupted in mice with altered beta-catenin, Shh and FGF8 signaling. Development. 2026 Sep 1;153(17):dev205695
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/15/2026
    MGI 6.29     		The Jackson Laboratory