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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
  • Gene Overview
    MyGene.info: GJA5
Location & Maps
more
  • Sequence Map
    Chr3:96904693-97077416 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      172724 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GJA5, gap junction protein alpha 5
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GJA5, gap junction protein alpha 5
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ATFB11, CX40
  • Links
    NCBI Gene ID: 2702
    neXtProt AC: NX_P36382

  • Chr Location
    1q21.1; chr1:147756199-147781067 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3856
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog
  • HCOP
    human homology predictions: GJA5
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Gja5 mouse models; 3 with human GJA5 associations

Human Disease Mouse Models
       Tetralogy of Fallot; TOF   OMIM: 187500 View 2 models
       Atrial Fibrillation, Familial, 11; ATFB11   OMIM: 614049
Atrial Standstill 1; ATRST1   OMIM: 108770
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb   OMIM: 612474
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 5 alleles in 8 genetic backgrounds
    27 phenotypes from multigenic genotypes
    83 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    11
  • Genomic Mutations
    2 involving Gja5
  • Incidental Mutations
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
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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 OTTMUSG00000022046 VEGA Gene Model | MGI Sequence Detail 172724 C57BL/6J ±  kb
transcript OTTMUST00000132913 VEGA | MGI Sequence Detail 3668 Not Applicable  
polypeptide OTTMUSP00000070787 VEGA | MGI Sequence Detail 368 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1366 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000007994 gap junction alpha-5 protein
  • InterPro Domains
    IPR000500 Connexin
    IPR017990 Connexin, conserved site
    IPR013092 Connexin, N-terminal
    IPR002264 Gap junction alpha-5 protein (Cx40)
    IPR031862 Gap junction alpha-5 protein (Cx40), C-terminal
    IPR019570 Gap junction protein, cysteine-rich domain
Molecular
Reagents
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  • All nucleic 26
    Genomic 5
    cDNA 7
    Primer pair 8
    Other 6

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10082, MGD-MRK-10088, MGI:1917909
References
more
  • Summaries
    All 253
    Developmental Gene Expression 137
    Diseases 1
    Gene Ontology 17
    Phenotypes 83
  • 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:226411 Caprioli A, et al., Wnt4 is essential to normal mammalian lung development. Dev Biol. 2015 Oct 15;406(2):222-34

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory