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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
    gene page
  • Transcription Start Sites
    5 TSS
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
    18
  • 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 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
    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
    neXtProt AC: NX_P52952
    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
    133 phenotypes from 14 alleles in 19 genetic backgrounds
    195 phenotypes from multigenic genotypes
    4 images
    318 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
    158
  • GO References
    64
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
    1482
  • Tissues
    315
  • cDNA Data
    30
  • Literature Summary
    435
  • 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 128
      Genomic 7
      cDNA 37
      Primer pair 47
      Other 37

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12892, MGD-MRK-2209
    References
    more
    • Summaries
      All 750
      Developmental Gene Expression 435
      Diseases 10
      Gene Ontology 64
      Phenotypes 318
    • 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:355648 Abassah-Oppong S, et al., A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival. Nat Commun. 2024 Oct 10;15(1):8793
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory