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Gja5 Gene Detail
Summary
  • Symbol
    Gja5
  • Name
    gap junction protein, alpha 5
  • Synonyms
    connexin 40, Cx40, Gja-5
  • Feature Type
    protein coding gene
  • IDs
    MGI:95716
    NCBI Gene: 14613
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:96939718-96960950 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 42.04 cM
  • Mapping Data
    11 experiments
Strain
Comparison
more
  • SNPs within 2kb
    653 from dbSNP Build 142
  • Strain Annotations
    19
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95716
 protein coding gene Chr3:96812009-96984732 (+)
129S1/SvImJ ENSMUSG00200044449
 protein coding gene Chr3:93566326-93611334 (+)
A/J ENSMUSG00195043868
 protein coding gene Chr3:93969332-94014348 (+)
AKR/J ENSMUSG00220040200
 protein coding gene Chr3:92321419-92366436 (+)
BALB/cJ ENSMUSG00180031183
 protein coding gene Chr3:93916003-93961011 (+)
C3H/HeJ ENSMUSG00175028685
 protein coding gene Chr3:93527765-93572777 (+)
C57BL/6NJ ENSMUSG00215017748
 protein coding gene Chr3:94297664-94342671 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025395
 protein coding gene Chr3:90949116-91124366 (+)
CAST/EiJ ENSTCUG00005018391
 protein coding gene Chr3:94113148-94164197 (+)
CBA/J ENSMUSG00210051247
 protein coding gene Chr3:94080753-94125765 (+)
DBA/2J ENSMUSG00185041325
 protein coding gene Chr3:94538003-94583012 (+)
FVB/NJ ENSMUSG00205026939
 protein coding gene Chr3:93189270-93245370 (+)
JF1/MsJ ENSUMUG00000028998
 protein coding gene Chr3:93383633-93434716 (+)
LP/J ENSMUSG00230040822
 protein coding gene Chr3:96498117-96543124 (+)
NOD/ShiLtJ ENSMUSG00190044009
 protein coding gene Chr3:94630385-94684610 (+)
NZO/HlLtJ ENSMUSG00225012245
 protein coding gene Chr3:98875814-98920839 (+)
PWK/PhJ ENSLUMG00010026637
 protein coding gene Chr3:93376815-93436089 (+)
SPRET/EiJ ENSMSPG00010035618
 protein coding gene Chr3:93672817-93717682 (+)
WSB/EiJ ENSIUOG00005029166
 protein coding gene Chr3:94034230-94079526 (+)



Homology
more
  • Human Ortholog
    GJA5, gap junction protein alpha 5
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    GJA5, gap junction protein alpha 5
  • Synonyms
    ATFB11, CX40
  • Links
    NCBI Gene ID: 2702
    UniProt: P36382

  • Chr Location
    1q21.2; chr1:147756199-147773362 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Gja5 mouse models; 4 with human GJA5 associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    31 phenotypes from 6 alleles in 7 genetic backgrounds
    30 phenotypes from multigenic genotypes
    132 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.
Homozygotes for targeted null mutations exhibit hypertension, cardiac arrhythmias, reduced atrial and ventricular conduction velocities, and impaired conductance of vasodilation in arterioles of skeletal muscle.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    133
  • GO References
    22
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
    1125
  • Tissues
    220
  • cDNA Data
    9
  • Literature Summary
    237
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14613 NCBI Gene Model | MGI Sequence Detail 21233 C57BL/6J ±  kb
    transcript NM_001271628 RefSeq | MGI Sequence Detail 3180 ZRU/MplStud  
    polypeptide Q01231 UniProt | EBI | MGI Sequence Detail 358 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      Genomic 5
      cDNA 9
      Primer pair 23
      Other 14
      Antibodies 21

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10082, MGD-MRK-10088, MGI:1917909
    References
    more
    • Summaries
      All 414
      Developmental Gene Expression 237
      Diseases 2
      Gene Ontology 22
      Phenotypes 132
    • Earliest
      J:11073 Willecke K, et al., Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. Eur J Cell Biol. 1990 Dec;53(2):275-80
    • Latest
      J:382967 Joo K, et al., Cardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression. JCI Insight. 2026 Mar 23;11(6)
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory