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Aliases for GJA5 Gene

Aliases for GJA5 Gene

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

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) is a Protein Coding gene. Diseases associated with GJA5 include Atrial Fibrillation, Familial, 11 and Atrial Standstill, Digenic. Among its related pathways are Development Slit-Robo signaling and Vesicle-mediated transport. GO annotations related to this gene include gap junction channel activity and gap junction hemi-channel activity. An important paralog of this gene is GJA8.

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 (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).

Gene Wiki entry for GJA5 Gene

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

Genomics for GJA5 Gene

Regulatory Elements for GJA5 Gene

Enhancers for GJA5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G147748 1.4 VISTA dbSUPER 17 +29.9 29893 5.2 HDAC1 ELF3 PKNOX1 FOXA2 ARID4B SIN3A RAD21 ZBTB40 YY1 RARA GJA5 ENSG00000234190 GJA8 ACP6 PDIA3P1 ENSG00000274415 LOC105371230
GH01G147699 1.4 Ensembl ENCODE 10.9 +80.8 80777 1.4 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC ACP6 BCL9 ENSG00000234190 GJA5 GJA8 ENSG00000234225 ENSG00000227139 LOC102723321
GH01G147739 0.8 dbSUPER 16.4 +40.7 40731 2.2 SOX13 CEBPG RARA GATA4 NFE2 NR2F6 CREM GATAD2A SOX5 NFIA GJA5 ENSG00000234190 GJA8 ACP6 ENSG00000234225 LOC105371230 ENSG00000274415
GH01G147716 0.9 ENCODE 11.3 +63.7 63661 1.9 ELF3 TBP PKNOX1 FOXA2 NFIB BMI1 ZSCAN9 RARA GATA2 SCRT2 GJA5 ENSG00000234190 ACP6 LOC102723321 LOC105371230
GH01G147515 0.9 ENCODE 10.4 +264.9 264901 1.3 ELF3 FOXA2 ZSCAN4 ARID4B SIN3A RAD21 RFX5 SCRT2 FOS RCOR1 BCL9 GJA5 ENSG00000234190 GJA8 ENSG00000237188 LINC00624 PIR38166
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJA5 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJA5 Gene

Chromosome:
1
Start:
147,756,199 bp from pter
End:
147,781,067 bp from pter
Size:
24,869 bases
Orientation:
Minus strand

Genomic View for GJA5 Gene

Genes around GJA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for GJA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA5 Gene

No data available for DME Specific Peptides for GJA5 Gene

Domains & Families for GJA5 Gene

Gene Families for GJA5 Gene

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 :
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
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 IEA --
GO:0055077 gap junction hemi-channel activity IDA 23348765
GO:0071253 connexin binding IEA --
GO:0086020 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling NAS 15044680
GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling IMP 16790700
genes like me logo Genes that share ontologies with GJA5: view
genes like me logo Genes that share phenotypes with GJA5: view

Human Phenotype Ontology for GJA5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJA5 Gene

MGI Knock Outs for GJA5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GJA5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GJA5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GJA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IDA 22247482
GO:0005921 gap junction IDA 23348765
GO:0005922 connexin complex ISS 15044680
GO:0014704 intercalated disc TAS 23348765
genes like me logo Genes that share ontologies with GJA5: view

Pathways & Interactions for GJA5 Gene

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

Interacting Proteins for GJA5 Gene

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 IEA --
GO:0003071 renal system process involved in regulation of systemic arterial blood pressure IEA --
GO:0003073 regulation of systemic arterial blood pressure IEA --
genes like me logo Genes that share ontologies with GJA5: view

No data available for SIGNOR curated interactions for GJA5 Gene

Drugs & Compounds for GJA5 Gene

(14) Drugs for GJA5 Gene - From: DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(3) Additional Compounds for GJA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
Gap19 Cx43 hemichannel blocker 1507930-57-5
genes like me logo Genes that share compounds with GJA5: view

Transcripts for GJA5 Gene

Unigene Clusters for GJA5 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GJA5

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.8), Heart - Atrial Appendage (x4.7), Lung (x4.4), and Artery - Tibial (x4.3).

Protein differential expression in normal tissues from HIPED for GJA5 Gene

This gene is overexpressed in Placenta (56.6) and Fetal heart (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GJA5 Gene



Protein tissue co-expression partners for GJA5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GJA5 Gene:

GJA5

SOURCE GeneReport for Unigene cluster for GJA5 Gene:

Hs.447968

Evidence on tissue expression from TISSUES for GJA5 Gene

  • Heart(3.4)
  • Lung(3.3)
  • Muscle(3.2)
  • Kidney(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GJA5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with GJA5: view

Primer Products

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 34
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia GJA5 34
  • 89.48 (n)
cow
(Bos Taurus)
Mammalia GJA5 34
  • 86.5 (n)
rat
(Rattus norvegicus)
Mammalia Gja5 34
  • 82.68 (n)
mouse
(Mus musculus)
Mammalia Gja5 34 16
  • 82.12 (n)
chicken
(Gallus gallus)
Aves GJA5 34
  • 71.82 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia gja5 34
  • 68 (n)
Species where no ortholog for GJA5 was found in the sources mined by GeneCards:
  • 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

Paralogs for GJA5 Gene

(16) SIMAP similar genes for GJA5 Gene using alignment to 1 proteins:

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

Variants for GJA5 Gene

Sequence variations from dbSNP and Humsavar for GJA5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs121434557 Pathogenic, Atrial standstill 1 (ATRST1) [MIM:108770] 147,758,953(-) GCCAC(G/T)CCATG intron-variant, reference, missense
rs121434558 Pathogenic, Atrial standstill 1 (ATRST1) [MIM:108770] 147,758,977(-) CCACG(C/T)CCTCT intron-variant, reference, missense
rs387906613 Pathogenic, Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] 147,758,986(-) TCTTC(A/G/T)TCTCC intron-variant, reference, missense
rs387906614 Pathogenic, Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] 147,758,578(-) TCCTC(A/C)TTAGC intron-variant, reference, missense
rs387906615 Pathogenic, Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049] 147,758,554(-) ACCAC(A/C)TGGGC intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv327n100 CNV gain 25217958
dgv66e199 CNV deletion 23128226
esv2761299 CNV gain+loss 21179565
esv3894123 CNV gain 25118596
nsv1003688 CNV gain 25217958
nsv1005055 CNV loss 25217958
nsv1132304 CNV duplication 24896259
nsv463506 CNV gain 19166990
nsv463517 CNV gain 19166990
nsv509457 CNV insertion 20534489
nsv510962 OTHER complex 20534489
nsv547677 CNV gain 21841781
nsv547678 CNV gain 21841781
nsv831426 CNV loss 17160897
nsv831437 CNV loss 17160897
nsv997330 CNV gain 25217958

Variation tolerance for GJA5 Gene

Residual Variation Intolerance Score: 14.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.50; 10.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJA5 Gene

Human Gene Mutation Database (HGMD)
GJA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJA5

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

Disorders for GJA5 Gene

MalaCards: The human disease database

(13) MalaCards diseases for GJA5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
atrial fibrillation, familial, 11
  • atfb11
atrial standstill, digenic
  • atrial standstill 1
familial atrial fibrillation
  • atrial fibrillation, familial, 1
gja5-related familial atrial fibrillation
  • atrial fibrillation, familial, 11
atrial fibrillation
  • a-fib
- elite association - COSMIC cancer census association via MalaCards
Search GJA5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXA5_HUMAN
  • 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.
  • 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.

Relevant External Links for GJA5

Genetic Association Database (GAD)
GJA5
Human Genome Epidemiology (HuGE) Navigator
GJA5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJA5
genes like me logo Genes that share disorders with GJA5: view

No data available for Genatlas for GJA5 Gene

Publications for GJA5 Gene

  1. Novel connexin40 missense mutations in patients with familial atrial fibrillation. (PMID: 20650941) Yang Y.Q. … Fang W.Y. (Europace 2010) 3 4 46 64
  2. Absence of connexin 40 gene polymorphism, as a marker of undetected atrial fibrillation in patients with unexplained cerebral ischemic events. (PMID: 19494781) Chaldoupi S.M. … Loh P. (Eur J Cardiovasc Prev Rehabil 2009) 3 22 46 64
  3. The association of human connexin 40 genetic polymorphisms with atrial fibrillation. (PMID: 16814413) Juang J.M. … Lai L.P. (Int. J. Cardiol. 2007) 3 22 46 64
  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 22 64
  5. 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 22 46 64

Products for GJA5 Gene

Sources for GJA5 Gene

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