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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
    gene 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
    18
  • 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 MGP_129S1SvImJ_G0027636
 protein coding gene Chr3:97809463-97987755 (+)
A/J MGP_AJ_G0027598
 protein coding gene Chr3:94672519-94852946 (+)
AKR/J MGP_AKRJ_G0027565
 protein coding gene Chr3:96915250-97115445 (+)
BALB/cJ MGP_BALBcJ_G0027608
 protein coding gene Chr3:94498682-94679873 (+)
C3H/HeJ MGP_C3HHeJ_G0027340
 protein coding gene Chr3:97212153-97400358 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028054
 protein coding gene Chr3:101373390-101567448 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025395
 protein coding gene Chr3:90949116-91124366 (+)
CAST/EiJ MGP_CASTEiJ_G0026795
 protein coding gene Chr3:96486996-96671998 (+)
CBA/J MGP_CBAJ_G0027316
 protein coding gene Chr3:105228280-105249470 (+)
DBA/2J MGP_DBA2J_G0027458
 protein coding gene Chr3:94004592-94177424 (+)
FVB/NJ MGP_FVBNJ_G0027427
 protein coding gene Chr3:92012544-92187686 (+)
LP/J MGP_LPJ_G0027563
 protein coding gene Chr3:99082025-99264063 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027453
 protein coding gene Chr3:111164234-111350591 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028108
 protein coding gene Chr3:96526251-96715259 (+)
PWK/PhJ MGP_PWKPhJ_G0026520
 protein coding gene Chr3:93843003-94026599 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026342
 protein coding gene Chr3:94823560-95003523 (+)
WSB/EiJ MGP_WSBEiJ_G0026873
 protein coding gene Chr3:96987204-97172449 (+)



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
    neXtProt AC: NX_P36382
    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
    117 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
    86
  • GO References
    18
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
    1186
  • Tissues
    203
  • cDNA Data
    10
  • Literature Summary
    231
  • 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_008121 RefSeq | MGI Sequence Detail 3180 Not Specified  
    polypeptide Q01231 UniProt | EBI | MGI Sequence Detail 358 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 5
      cDNA 10
      Primer pair 20
      Other 12

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10082, MGD-MRK-10088, MGI:1917909
    References
    more
    • Summaries
      All 390
      Developmental Gene Expression 231
      Diseases 2
      Gene Ontology 18
      Phenotypes 117
    • 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:355142 Gomez-Del Arco P, et al., The G4 resolvase Dhx36 modulates cardiomyocyte differentiation and ventricular conduction system development. Nat Commun. 2024 Oct 4;15(1):8602
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory