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Gja5
Gene Detail
Symbol

Name
ID
Gja5
gap junction protein, alpha 5
MGI:95716
Synonyms
connexin 40, Cx40, Gja-5
Feature Type
protein coding gene
Genetic Map
Chromosome 3
42.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(11)
Sequence Map
Chr3:97032416-97053634 bp, + strand
From VEGA annotation of GRCm38

  21219 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3856  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Gene Tree: Gja5

Human
homologs
Human Homolog GJA5, gap junction protein, alpha 5, 40kDa
NCBI Gene ID 2702
neXtProt AC  NX_P36382
Human Synonyms  ATFB11, CX40
Human Chr (Location)  1q21.1; chr1:147756199-147781054 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human GJA5
Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(1) Targeted(10)
 
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.
 
Human Diseases Modeled Using Mouse Gja5 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Gja5 interacts with 217 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (72 annotations)
Process artery morphogenesis, atrial cardiac muscle cell action potential, ...
Component cell junction, cell projection, ...
Function connexin binding, gap junction channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (122 records)
Data Summary: Results (184)    Tissues (66)    Images (58)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 59
RNA in situ 71
Northern blot 14
Western blot 10
RT-PCR 26
RNase protection 4
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(22) Genomic(5) cDNA(7) Primer pair(7) Other(3)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000022046 (Evidence)
Ensembl Gene ModelENSMUSG00000057123 (Evidence)
Entrez Gene14613 (Evidence)
UniGene281816
DFCITC1587411, TC1591211, TC1695343
DoTSDT.101243016, DT.101366354, DT.101721957, DT.94141978
NIA Mouse Gene IndexU003609
Consensus CDS ProjectCCDS17652.1
International Mouse Knockout Project StatusGja5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022046 VEGA Gene Model | MGI Sequence Detail 21219 C57BL/6J ±  kb
transcript OTTMUST00000052336 VEGA | MGI Sequence Detail 3109 Not Applicable 
polypeptide OTTMUSP00000024800 VEGA | MGI Sequence Detail 358 Not Applicable 

For the selected sequences
All sequences(35) RefSeq(4) UniProt(5)
Polymorphisms
RFLP(1) : SNPs within 2kb(190 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000500 Connexin
InterPro IPR017990 Connexin, conserved site
InterPro IPR013092 Connexin, N-terminal
InterPro IPR002264 Gap junction alpha-5 protein (Cx40)
InterPro IPR019570 Gap junction protein, cysteine-rich domain
Protein Ontology PR:000007994 gap junction alpha-5 protein
References
(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:208324 Benes J Jr, et al., The role of connexin40 in developing atrial conduction. FEBS Lett. 2014 Apr 17;588(8):1465-9
All references(239)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-10082, MGD-MRK-10088, MGI:1917909

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory