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Aliases for GJA5 Gene

Aliases for GJA5 Gene

  • Gap Junction Protein, Alpha 5, 40kDa 2 3
  • CX40 3 4 6
  • Connexin 40 2 3
  • ATFB11 3 6
  • Gap Junction Protein, Alpha 5, 40kDa (Connexin 40) 2
  • Gap Junction Protein, Alpha 5, 40kD (Connexin 40) 2
  • Gap Junction Protein Alpha 5 40kDa 3
  • Gap Junction Alpha-5 Protein 3
  • Connexin-40 4

External Ids for GJA5 Gene

Previous GeneCards Identifiers for GJA5 Gene

  • GC01M145445
  • GC01M143955
  • GC01M144573
  • GC01M144735
  • GC01M144453
  • GC01M145695
  • GC01M147228
  • GC01M120641

Summaries for GJA5 Gene

Entrez Gene Summary for GJA5 Gene

  • 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]

GeneCards Summary for GJA5 Gene

GJA5 (Gap Junction Protein, Alpha 5, 40kDa) is a Protein Coding gene. Diseases associated with GJA5 include atrial fibrillation, familial, 11 and atrial standstill, digenic. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction hemi-channel activity and gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling.

UniProtKB/Swiss-Prot for GJA5 Gene

  • One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell

Tocris Summary for GJA5 Gene

  • Gap channels (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid responses. Structurally, gap channels are composed of two hemichannels called 'connexons', which themselves are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct permeability, selectivity and functional properties. Pannexins are related to connexins and can also form gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a family of proteins called innexins form these channels. Gap channels are regulated through post-translational modifications of the C'-terminal cytoplasmic tail and phosphorylation modulates assembly and their physiological properties. They are continuously synthesized and degraded, allowing tissues to rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and cardiovascular disease.

Gene Wiki entry for GJA5 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJA5 Gene

Genomics for GJA5 Gene

Regulatory Elements for GJA5 Gene

Genomic Location for GJA5 Gene

Start:
147,756,199 bp from pter
End:
147,781,054 bp from pter
Size:
24,856 bases
Orientation:
Minus strand

Genomic View for GJA5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA5 Gene

Proteins for GJA5 Gene

  • Protein details for GJA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P36382-CXA5_HUMAN
    Recommended name:
    Gap junction alpha-5 protein
    Protein Accession:
    P36382
    Secondary Accessions:
    • Q5T3B6
    • Q5U0N6

    Protein attributes for GJA5 Gene

    Size:
    358 amino acids
    Molecular mass:
    40380 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins

neXtProt entry for GJA5 Gene

Proteomics data for GJA5 Gene at MOPED

Post-translational modifications for GJA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA5 Gene

Domains for GJA5 Gene

Gene Families for GJA5 Gene

HGNC:
  • GJ :Ion channels / Gap junction proteins (connexins)
IUPHAR :

Suggested Antigen Peptide Sequences for GJA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P36382

UniProtKB/Swiss-Prot:

CXA5_HUMAN :
  • P36382
Family:
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
genes like me logo Genes that share domains with GJA5: view

Function for GJA5 Gene

Molecular function for GJA5 Gene

GENATLAS Biochemistry: gap junction protein,alpha 5,40kDa (connexin 40),expressed in heart,left ventricule,monomer of the connexon (six subunits)
UniProtKB/Swiss-Prot Function: One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell

Gene Ontology (GO) - Molecular Function for GJA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity --
GO:0055077 gap junction hemi-channel activity IDA 23348765
GO:0071253 connexin binding IEA --
GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling IMP 16790700
GO:0086077 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling IDA 22247482
genes like me logo Genes that share ontologies with GJA5: view
genes like me logo Genes that share phenotypes with GJA5: view

Animal Models for GJA5 Gene

MGI Knock Outs for GJA5:

miRNA for GJA5 Gene

miRTarBase miRNAs that target GJA5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GJA5 Gene

Localization for GJA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA5 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJA5 Gene COMPARTMENTS Subcellular localization image for GJA5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for GJA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 22247482
GO:0005921 gap junction IDA 23348765
GO:0005922 connexon complex IDA 22247482
GO:0014704 intercalated disc TAS 23348765
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with GJA5: view

Pathways for GJA5 Gene

genes like me logo Genes that share pathways with GJA5: view

Pathways by source for GJA5 Gene

Interacting Proteins for GJA5 Gene

Selected Interacting proteins: P36382-CXA5_HUMAN for GJA5 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for GJA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001525 angiogenesis IEP 11866539
GO:0001568 blood vessel development --
GO:0003071 renal system process involved in regulation of systemic arterial blood pressure --
GO:0003073 regulation of systemic arterial blood pressure --
genes like me logo Genes that share ontologies with GJA5: view

Compounds for GJA5 Gene

(5) Tocris Compounds for GJA5 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions [955091-53-9]
Carbenoxolone disodium Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase [7421-40-1]
Gap 26 Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release [197250-15-0]
Gap 27 Selective gap junction blocker [198284-64-9]
Scrambled 10Panx Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide [1315378-72-3]

(4) IUPHAR Ligand for GJA5 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(8) Novoseek inferred chemical compound relationships for GJA5 Gene

Compound -log(P) Hits PubMed IDs
connexin 45 77.2 6
glycyrrhetinic acid 56.8 1
ouabain 10.6 3
nitric oxide 0.634 3
atp 0 2
genes like me logo Genes that share compounds with GJA5: view

Transcripts for GJA5 Gene

mRNA/cDNA for GJA5 Gene

Unigene Clusters for GJA5 Gene

Gap junction protein, alpha 5, 40kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJA5 Gene

No ASD Table

Relevant External Links for GJA5 Gene

GeneLoc Exon Structure for
GJA5
ECgene alternative splicing isoforms for
GJA5

Expression for GJA5 Gene

mRNA expression in normal human tissues for GJA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJA5 Gene

This gene is overexpressed in Artery - Coronary (5.8), Heart - Atrial Appendage (4.7), Lung (4.4), and Artery - Tibial (4.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for GJA5 Gene

SOURCE GeneReport for Unigene cluster for GJA5 Gene Hs.447968

genes like me logo Genes that share expressions with GJA5: view

No data available for mRNA Expression by UniProt/SwissProt for GJA5 Gene

Orthologs for GJA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJA5 35
  • 99.53 (n)
  • 99.44 (a)
cow
(Bos Taurus)
Mammalia GJA5 35
  • 86.5 (n)
  • 86.31 (a)
dog
(Canis familiaris)
Mammalia GJA5 35
  • 89.48 (n)
  • 91.06 (a)
mouse
(Mus musculus)
Mammalia Gja5 35
  • 82.12 (n)
  • 82.68 (a)
Gja5 16
rat
(Rattus norvegicus)
Mammalia Gja5 35
  • 82.68 (n)
  • 82.87 (a)
chicken
(Gallus gallus)
Aves GJA5 35
  • 71.82 (n)
  • 72.47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gja5 35
  • 68 (n)
  • 71.23 (a)
Species with no ortholog for GJA5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GJA5 Gene

ENSEMBL:
Gene Tree for GJA5 (if available)
TreeFam:
Gene Tree for GJA5 (if available)

Paralogs for GJA5 Gene

Selected SIMAP similar genes for GJA5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJA5: view

No data available for Paralogs for GJA5 Gene

Variants for GJA5 Gene

Sequence variations from dbSNP and Humsavar for GJA5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs10494257 -- 147,782,458(-) TGTTC(A/G)ATAAG upstream-variant-2KB
rs61498614 -- 147,782,906(+) AACTC(C/T)AGCCA upstream-variant-2KB
rs76016895 -- 147,782,974(+) TCCGA(A/T)CTTGA upstream-variant-2KB
rs77226220 -- 147,782,237(+) CTTCA(C/T)GGAGC upstream-variant-2KB
rs77935362 -- 147,782,322(+) TTGAC(A/C)CAAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GJA5 Gene

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
nsv872266 CNV Gain 21882294
nsv831426 CNV Loss 17160897
nsv463506 CNV Gain 19166990
nsv463517 CNV Gain 19166990
nsv831437 CNV Loss 17160897

Relevant External Links for GJA5 Gene

HapMap Linkage Disequilibrium report
GJA5
Human Gene Mutation Database (HGMD)
GJA5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA5 Gene

Disorders for GJA5 Gene

(2) OMIM Diseases for GJA5 Gene (121013)

UniProtKB/Swiss-Prot

CXA5_HUMAN
  • Atrial standstill 1 (ATRST1) [MIM:108770]: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. {ECO:0000269 PubMed:16790700}. Note=The disease may be caused by mutations affecting distinct genetic loci, including the gene represented in this entry. A rare GJA5 genotype has been detected in combination with a mutation in SCN5A in a large family with atrial standstill.
  • Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269 PubMed:20650941}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GJA5 Gene

(7) Novoseek inferred disease relationships for GJA5 Gene

Disease -log(P) Hits PubMed IDs
atrial fibrillation 63.7 15
defect conduction 47.9 3
arrhythmia 43.6 5
bundle branch block 35.7 1
choriocarcinoma 32.8 2

Relevant External Links for GJA5

Genetic Association Database (GAD)
GJA5
Human Genome Epidemiology (HuGE) Navigator
GJA5
genes like me logo Genes that share disorders with GJA5: view

Publications for GJA5 Gene

  1. Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. (PMID: 7966354) Kanter H.L. … Beyer E.C. (J. Mol. Cell. Cardiol. 1994) 3 4 23
  2. Association of human connexin40 gene polymorphisms with atrial vulnerability as a risk factor for idiopathic atrial fibrillation. (PMID: 15297374) Firouzi M. … Hauer R.N. (Circ. Res. 2004) 3 23 48
  3. Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. (PMID: 10581143) Haefliger J.-A. … Waeber G. (Eur. Heart J. 1999) 3 4 23
  4. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. (PMID: 16790700) Gollob M.H. … Bai D. (N. Engl. J. Med. 2006) 3 4 23
  5. The association of human connexin 40 genetic polymorphisms with atrial fibrillation. (PMID: 16814413) Juang J.M. … Lai L.P. (Int. J. Cardiol. 2007) 3 23 48

Products for GJA5 Gene

Sources for GJA5 Gene

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