Format

Send to:

Choose Destination

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

Gene ID: 14613, updated on 2-Oct-2018

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 Vega:OTTMUSG00000022046
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; 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

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
106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (97032402..97053634)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (96836339..96857557)

Chromosome 3 - NC_000069.6Genomic 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 FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Regulation of Cardiac Hypertrophy by miR-208, organism-specific biosystem (from WikiPathways)
    Regulation of Cardiac Hypertrophy by miR-208, organism-specific biosystemMicroRNA-208a regulates cardiac hypertrophy pathways in mice. MicroRNAs are shown in purple. Knock out and overexpression of miR-208a are shown in blue. Processes are shown at the top and include hyp...

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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 (4) summary
    smart00037
    Location:4376
    CNX; Connexin homologues
    smart01089
    Location:163229
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3231
    Connexin; 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
    ENSMUSP00000088264.5, OTTMUSP00000024800, ENSMUST00000072600.6, OTTMUST00000052336
    Conserved Domains (4) summary
    smart00037
    Location:4376
    CNX; Connexin homologues
    smart01089
    Location:163229
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:3231
    Connexin; Connexin
    pfam16791
    Location:258358
    Connexin40_C; Connexin 40 C-terminal domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

    Range
    97032402..97053634
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center