My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    GJA5 gap junction protein, alpha 5, 40kDa [ Homo sapiens ]

    Gene ID: 2702, updated on 11-May-2012
    Help top of page

    Summary

    Official Symbol
    GJA5provided by HGNC
    Official Full Name
    gap junction protein, alpha 5, 40kDaprovided by HGNC
    Primary source
    HGNC:4279
    See related
    Ensembl:ENSG00000143140; HPRD:08699; MIM:121013; Vega:OTTHUMG00000014020
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CX40; ATFB11; MGC11185
    Summary
    This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described. [provided by RefSeq, Jul 2008]
    Help top of page

    Genomic context

    Location :
    1q21.1
    Sequence :
    Chromosome: 1; NC_000001.10 (147228332..147245484, complement)
    See GJA5 in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene B-cell CLL/lymphoma 9 Neighboring gene acid phosphatase 6, lysophosphatidic Neighboring gene PRAME family member 17 pseudogene Neighboring gene gap junction protein, alpha 8, 50kDa

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. A connexin40 mutation associated with a malignant variant of progressive familial heart block type I. Makita N, et al. Circ Arrhythm Electrophysiol, 2012 Feb. PMID 22247482.
    2. Regulation of endothelial connexin40 expression by shear stress. Vorderwülbecke BJ, et al. Am J Physiol Heart Circ Physiol, 2012 Jan 1. PMID 22021330.
    3. [Polymorphism of connexin 40 gene-- a novel genetic marker of the sick sinus node syndrome]. Chernova AA, et al. Kardiologiia, 2011. PMID 21649591.
    4. Influence of v5/6-His tag on the properties of gap junction channels composed of connexin43, connexin40 or connexin45. Desplantez T, et al. J Membr Biol, 2011 Apr. PMID 21424225.
    5. A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation. Wirka RC, et al. Circ Arrhythm Electrophysiol, 2011 Feb. PMID 21076161.

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Heteromeric cotransfection of Cx40-WT and Cx40-Q58L resulted in homogenous distribution of proteins in the plasma membrane rather than in membrane plaques in approximately 50% of cells; well-defined gap junctions were observed in other cells.
      Title: A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
    2. Regulation of endothelial connexin40 expression by shear stress via PI3K/Akt pathway.
      Title: Regulation of endothelial connexin40 expression by shear stress.
    3. Association between hereditary sick sinus node syndrome and connexin 40 gene polymorphism was demonstrated.
      Title: [Polymorphism of connexin 40 gene-- a novel genetic marker of the sick sinus node syndrome].
    4. Study shows that fusion of a V5/6-His tag (hexa moiety M r = 0.93 kDa) to the CT segment of Cx40, Cx43 and Cx45 does not prevent the cells from forming channels.
      Title: Influence of v5/6-His tag on the properties of gap junction channels composed of connexin43, connexin40 or connexin45.
    5. There is an alternate promoter polymorphism that directly affects levels of Cx40 mRNA in vivo and is associated with early-onset lone atrial fibrillation.
      Title: A common connexin-40 gene promoter variant affects connexin-40 expression in human atria and is associated with atrial fibrillation.
    6. Results show that Cx40, Cx37, Cx43 and Cx45 were expressed within the glomeruli.
      Title: High-level connexin expression in the human juxtaglomerular apparatus.
    7. Three novel connexin40 mutations (p.V85I, p.L221I, and p.L229M) were identified which co-segregated with atrial fibrillation and were absent in the controls without atrial fibrillation.
      Title: Novel connexin40 missense mutations in patients with familial atrial fibrillation.
    8. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    9. In patients with cerebral ischemic events, without prior CVD, a higher prevalence of the Cx40 gene polymorphism, as a marker of underlying idiopathic atrial fibrillation appeared to be absent.
      Title: Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events.
    10. analysis of intermolecular interactions between the connexin40 and connexin43 carboxyl-terminal and cytoplasmic loop domains
      Title: Characterization of the structure and intermolecular interactions between the connexin40 and connexin43 carboxyl-terminal and cytoplasmic loop domains.
    Submit: New GeneRIF Correction See all (28)
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Atrial fibrillation

    Atrial fibrillation, familial 4

    Atrial fibrillation, familial, 11

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P36382 Q9Y312 C20orf4    HPRD  PubMed  
    P36382 P17302 GJA1    HPRD  PubMed  
    P36382 P17612 PRKACA    HPRD  PubMed  
    BioGRID:108969 BioGRID:117464 C20orf4    BioGRID  PubMed Two-hybrid 
    BioGRID:108969 BioGRID:108964 GJA1    BioGRID  PubMed Co-purification 
    Help top of page

    General gene information

    Markers

    Genotypes

    Homology

    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...
    • Gap junction assembly, organism-specific biosystem (from REACTOME)
      Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
    • Gap junction trafficking, organism-specific biosystem (from REACTOME)
      Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
    • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
      Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    gap junction channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    angiogenesis IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    blood vessel development IEA
    Inferred from Electronic Annotation
    more info
    		  
    cell-cell junction assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic heart tube development IEA
    Inferred from Electronic Annotation
    more info
    		  
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    skeletal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cell junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    connexon complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    gap junction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    General protein information

    Preferred Names
    gap junction alpha-5 protein
    Names
    gap junction alpha-5 protein
    connexin 40
    connexin-40
    Help top of page

    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.

    Genomic

    1. NG_009369.1 RefSeqGene

      Range
      5001..22153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005266.5 → NP_005257.2  gap junction alpha-5 protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (A) represents the longer transcript. Variants A and B encode the same protein.
      Source sequence(s)
      AL365260
      Consensus CDS
      CCDS929.1
      UniProtKB/Swiss-Prot
      P36382
      Related
      ENSP00000271348, ENST00000271348
      Conserved Domains (2) summary
      cl02435
      Location:3 – 109
      Blast Score: 573
      Connexin; Connexin
      cl11207
      Location:163 – 211
      Blast Score: 237
      Connexin_CCC; Gap junction channel protein cysteine-rich domain

    2. NM_181703.2 → NP_859054.1  gap junction alpha-5 protein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (B) differs in the 5' UTR compared to variant A. Variants A and B encode the same protein.
      Source sequence(s)
      AL365260, BC013313
      Consensus CDS
      CCDS929.1
      UniProtKB/Swiss-Prot
      P36382
      Related
      ENSP00000358240, OTTHUMP00000015905, ENST00000369237, OTTHUMT00000039422
      Conserved Domains (2) summary
      cl02435
      Location:3 – 109
      Blast Score: 573
      Connexin; Connexin
      cl11207
      Location:163 – 211
      Blast Score: 237
      Connexin_CCC; Gap junction channel protein cysteine-rich domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      147228332..147245484, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      120641850..120659015, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF151979.1 AAD37801.1
    genomic AL365260.11 CAI14124.1
      CAI14125.1
    genomic CH471223.1 EAW50929.1
      EAW50930.1
    genomic L34954.1 AAA91833.1
    genomic U03486.2 AAA60457.2
    mRNA AF074995.1 None
    mRNA BC013313.2 AAH13313.1
    mRNA BQ231177.1 None
    mRNA BT019415.1 AAV38222.1
    mRNA BT019416.1 AAV38223.1
    other-genetic DQ891889.2 ABM82815.1
    other-genetic DQ895075.2 ABM86001.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P36382.3 GenPept UniProtKB/Swiss-Prot:P36382
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...