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Gja5 gap junction protein, alpha 5 [ Mus musculus (house mouse) ]

Gene ID: 14613, updated on 16-Aug-2021

Summary

Official Symbol
Gja5provided by MGI
Official Full Name
gap junction protein, alpha 5provided by MGI
Primary source
MGI:MGI:95716
See related
Ensembl:ENSMUSG00000057123
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Cx40; Cxni; Gja-; Cnx40; Gja-5; 5730555N10Rik
Expression
Broad expression in lung adult (RPKM 16.0), limb E14.5 (RPKM 8.9) and 15 other tissues See more
Orthologs
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Genomic context

See Gja5 in Genome Data Viewer
Location:
3 F2.1; 3 42.04 cM
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (96939718..96960950)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (97032402..97053634)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (96836339..96857557)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene PDZ domain containing 1 Neighboring gene G protein-coupled receptor 89 Neighboring gene gap junction protein, alpha 8 Neighboring gene RIKEN cDNA 4930573H18 gene Neighboring gene predicted gene, 31120 Neighboring gene predicted gene, 31183

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within AV node cell to bundle of His cell communication IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in AV node cell to bundle of His cell communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in AV node cell to bundle of His cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within SA node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in atrial cardiac muscle cell to AV node cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
involved_in atrial septum development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within atrial septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within atrial ventricular junction remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within blood vessel development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within blood vessel diameter maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bundle of His cell to Purkinje myocyte communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in bundle of His cell to Purkinje myocyte communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cardiac conduction system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell communication IEA
Inferred from Electronic Annotation
more info
 
involved_in cell communication by chemical coupling ISO
Inferred from Sequence Orthology
more info
 
involved_in cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cell communication by electrical coupling involved in cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell communication by electrical coupling involved in cardiac conduction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within cell communication involved in cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within embryonic heart tube development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within foramen ovale closure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gap junction assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in mitral valve development ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of blood pressure ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of glomerular filtration ISO
Inferred from Sequence Orthology
more info
 
involved_in outflow tract morphogenesis ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell communication by chemical coupling ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of vasoconstriction ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion transport ISO
Inferred from Sequence Orthology
more info
 
involved_in pulmonary valve formation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of AV node cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of AV node cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of Purkinje myocyte action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of atrial cardiac muscle cell action potential ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of atrial cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of atrial cardiac muscle cell membrane depolarization ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of bundle of His cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of bundle of His cell action potential ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cardiac muscle contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cell communication by electrical coupling ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of heart rate by cardiac conduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of membrane depolarization during cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of renin secretion into blood stream IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of systemic arterial blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of regulation of ventricular cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane depolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of ventricular cardiac muscle cell membrane repolarization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within renal system process involved in regulation of systemic arterial blood pressure IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within septum primum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vasodilation ISO
Inferred from Sequence Orthology
more info
 
involved_in vasomotion ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within ventricular cardiac muscle cell action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ventricular septum development ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection ISO
Inferred from Sequence Orthology
more info
 
part_of connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of connexin complex ISO
Inferred from Sequence Orthology
more info
 
located_in gap junction IDA
Inferred from Direct Assay
more info
PubMed 
located_in gap junction ISO
Inferred from Sequence Orthology
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in intercalated disc ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gap junction alpha-5 protein
Names
connexin i
connexin-40
gap junction membrane channel protein alpha 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001271628.1NP_001258557.1  gap junction alpha-5 protein

    See identical proteins and their annotated locations for NP_001258557.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC124473
    Consensus CDS
    CCDS17652.1
    UniProtKB/Swiss-Prot
    Q01231
    Conserved Domains (2) summary
    pfam00029
    Location:3231
    Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain
  2. NM_008121.3NP_032147.1  gap junction alpha-5 protein

    See identical proteins and their annotated locations for NP_032147.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    BB621080, BC053054
    Consensus CDS
    CCDS17652.1
    UniProtKB/Swiss-Prot
    Q01231
    Related
    ENSMUSP00000088264.6, ENSMUST00000072600.7
    Conserved Domains (2) summary
    pfam00029
    Location:3231
    Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    96939718..96960950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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