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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

HCOP human homology predictions: GJA5
Gene Tree: Gja5

Human
homologs
GJA5, gap junction protein, alpha 5, 40kDa
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 2702
neXtProt AC: NX_P36382

Human Synonyms: ATFB11, CX40

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

Disease Associations: (2) Diseases Associated with Human GJA5

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(1) Targeted(11)
Incidental mutations (data from CvDC )
 
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 in Mice Using Gja5 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Gja5 interacts with 217 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (77 annotations)
Process artery morphogenesis, atrial septum development, ...
Component cell junction, cell projection, ...
Function connexin binding, gap junction channel activity, ...
External Resources: FuncBase
Expression
Literature Summary: (130 records)
Data Summary: Results (205)    Tissues (84)    Images (62)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 72
RNA in situ 71
Northern blot 14
Western blot 10
RT-PCR 34
RNase protection 4
cDNA source data(7)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA GJA5 ZFIN cx41.8, cx45.6    NEW 
Molecular
reagents
All nucleic(24) Genomic(5) cDNA(7) Primer pair(8) Other(4)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000022046 (Evidence)
Ensembl Gene Model ENSMUSG00000057123 (Evidence)
Entrez Gene 14613 (Evidence)
UniGene 281816
DFCI TC1587411, TC1591211, TC1695343
DoTS DT.101243016, DT.101366354, DT.101721957, DT.94141978
NIA Mouse Gene Index U003609
Consensus CDS Project CCDS17652.1
International Mouse Phenotyping Consortium Status Gja5
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(33) RefSeq(4) UniProt(3)
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:215387 Hua LL, et al., Specification of the mouse cardiac conduction system in the absence of Endothelin signaling. Dev Biol. 2014 Sep 15;393(2):245-54
All references(244)
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
07/21/2015
MGI 5.22
The Jackson Laboratory