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Aliases for GJA4 Gene

Aliases for GJA4 Gene

  • Gap Junction Protein, Alpha 4, 37kDa 2 3
  • CX37 3 4 6
  • Connexin 37 2 3
  • Connexin-37 3 4
  • Gap Junction Protein, Alpha 4, 37kDa (Connexin 37) 2
  • Gap Junction Protein, Alpha 4, 37kD (Connexin 37) 2
  • Gap Junction Alpha-4 Protein 3

External Ids for GJA4 Gene

Previous GeneCards Identifiers for GJA4 Gene

  • GC01P035079
  • GC01P034314
  • GC01P034685
  • GC00M9U0037
  • GC01P034927
  • GC01P035258
  • GC01P033376

Summaries for GJA4 Gene

Entrez Gene Summary for GJA4 Gene

  • This gene encodes 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 have been associated with atherosclerosis and a higher risk of myocardial infarction. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJA4 Gene

GJA4 (Gap Junction Protein, Alpha 4, 37kDa) is a Protein Coding gene. Diseases associated with GJA4 include atherosclerosis and peripheral neuropathy. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJA4 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 GJA4 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 GJA4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJA4 Gene

Genomics for GJA4 Gene

Regulatory Elements for GJA4 Gene

Genomic Location for GJA4 Gene

Start:
34,792,958 bp from pter
End:
34,795,750 bp from pter
Size:
2,793 bases
Orientation:
Plus strand

Genomic View for GJA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA4 Gene

Proteins for GJA4 Gene

  • Protein details for GJA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35212-CXA4_HUMAN
    Recommended name:
    Gap junction alpha-4 protein
    Protein Accession:
    P35212
    Secondary Accessions:
    • A8K698
    • D3DPR4
    • Q9P106
    • Q9UBL1
    • Q9UNA9
    • Q9UNB0
    • Q9UNB1
    • Q9Y5N7

    Protein attributes for GJA4 Gene

    Size:
    333 amino acids
    Molecular mass:
    37414 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins

neXtProt entry for GJA4 Gene

Proteomics data for GJA4 Gene at MOPED

Post-translational modifications for GJA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA4 Gene

Domains for GJA4 Gene

Gene Families for GJA4 Gene

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

Suggested Antigen Peptide Sequences for GJA4 Gene

Graphical View of Domain Structure for InterPro Entry

P35212

UniProtKB/Swiss-Prot:

CXA4_HUMAN :
  • P35212
Family:
  • Belongs to the connexin family. Alpha-type (group II) subfamily.
genes like me logo Genes that share domains with GJA4: view

Function for GJA4 Gene

Molecular function for GJA4 Gene

GENATLAS Biochemistry: gap junction protein,alpha 4,37kDa (connexin 37),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 GJA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23840749
genes like me logo Genes that share ontologies with GJA4: view
genes like me logo Genes that share phenotypes with GJA4: view

Animal Models for GJA4 Gene

MGI Knock Outs for GJA4:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GJA4 Gene

Localization for GJA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA4 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJA4 Gene COMPARTMENTS Subcellular localization image for GJA4 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GJA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 7680674
GO:0005921 gap junction TAS 7680674
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with GJA4: view

Pathways for GJA4 Gene

genes like me logo Genes that share pathways with GJA4: view

Pathways by source for GJA4 Gene

Gene Ontology (GO) - Biological Process for GJA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0003158 endothelium development IEA --
GO:0006810 transport TAS 7680674
GO:0006816 calcium ion transport IEA --
GO:0007043 cell-cell junction assembly TAS 7680674
genes like me logo Genes that share ontologies with GJA4: view

Compounds for GJA4 Gene

(5) Tocris Compounds for GJA4 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 GJA4 Gene

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

(4) Novoseek inferred chemical compound relationships for GJA4 Gene

Compound -log(P) Hits PubMed IDs
nitric oxide 9.01 4
serine 8.97 1
retinoic acid 0.941 1
sucrose 0 1
genes like me logo Genes that share compounds with GJA4: view

Transcripts for GJA4 Gene

mRNA/cDNA for GJA4 Gene

Unigene Clusters for GJA4 Gene

Gap junction protein, alpha 4, 37kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJA4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for GJA4 Gene

GeneLoc Exon Structure for
GJA4
ECgene alternative splicing isoforms for
GJA4

Expression for GJA4 Gene

mRNA expression in normal human tissues for GJA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJA4 Gene

This gene is overexpressed in Artery - Tibial (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GJA4 Gene

SOURCE GeneReport for Unigene cluster for GJA4 Gene Hs.296310

mRNA Expression by UniProt/SwissProt for GJA4 Gene

P35212-CXA4_HUMAN
Tissue specificity: Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium
genes like me logo Genes that share expressions with GJA4: view

Orthologs for GJA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJA4 35
  • 99.3 (n)
  • 99.4 (a)
GJA4 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJA4 35
  • 90.29 (n)
  • 93.99 (a)
GJA4 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJA4 35
  • 89.99 (n)
  • 95.2 (a)
GJA4 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gja4 35
  • 87.09 (n)
  • 88.89 (a)
Gja4 16
Gja4 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJA4 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJA4 36
  • 69 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gja4 35
  • 86.19 (n)
  • 88.59 (a)
chicken
(Gallus gallus)
Aves GJA4 35
  • 73.13 (n)
  • 70.9 (a)
GJA4 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJA4 36
  • 64 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC397866 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gja4 35
  • 62.85 (n)
  • 67.34 (a)
zebrafish
(Danio rerio)
Actinopterygii cx28.1 36
  • 47 (a)
ManyToMany
cx28.9 36
  • 52 (a)
ManyToMany
cx32.2 36
  • 45 (a)
ManyToMany
cx32.3 36
  • 49 (a)
ManyToMany
cx34.5 36
  • 47 (a)
ManyToMany
cx43 36
  • 42 (a)
ManyToMany
Species with no ortholog for GJA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)

Evolution for GJA4 Gene

ENSEMBL:
Gene Tree for GJA4 (if available)
TreeFam:
Gene Tree for GJA4 (if available)

Paralogs for GJA4 Gene

Paralogs for GJA4 Gene

Selected SIMAP similar genes for GJA4 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for GJA4 Gene

genes like me logo Genes that share paralogs with GJA4: view

Variants for GJA4 Gene

Sequence variations from dbSNP and Humsavar for GJA4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs3543 -- 34,795,328(-) AAGCA(C/T)CTGCT utr-variant-3-prime
rs697372 -- 34,795,565(+) TGTGC(A/G)CAGGT utr-variant-3-prime
rs705193 -- 34,795,631(+) TTGAT(C/G)GCACA utr-variant-3-prime
rs1051167 -- 34,794,608(+) AGAGC(A/G/T)TCAGA missense, reference
rs1629527 -- 34,793,549(+) ACCAA(A/G)TGTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GJA4 Gene

Variant ID Type Subtype PubMed ID
esv1003104 CNV Deletion 20482838

Relevant External Links for GJA4 Gene

HapMap Linkage Disequilibrium report
GJA4
Human Gene Mutation Database (HGMD)
GJA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA4 Gene

Disorders for GJA4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for GJA4 Gene including...

Search for GJA4 Gene in MalaCards »

(1) University of Copenhagen DISEASES for GJA4 Gene

(6) Novoseek inferred disease relationships for GJA4 Gene

Disease -log(P) Hits PubMed IDs
erythrokeratodermia variabilis 85.7 1
atherosclerotic plaque 33.3 5
atherosclerosis 33.1 6
coronary artery disease 23.8 5
myocardial infarction 9.67 4

Relevant External Links for GJA4

Genetic Association Database (GAD)
GJA4
Human Genome Epidemiology (HuGE) Navigator
GJA4
genes like me logo Genes that share disorders with GJA4: view

No data available for UniProtKB/Swiss-Prot for GJA4 Gene

Publications for GJA4 Gene

  1. Molecular cloning and functional expression of human connexin37, an endothelial cell gap junction protein. (PMID: 7680674) Reed K.E. … Beyer E.C. (J. Clin. Invest. 1993) 2 3 4 23
  2. Human connexin 37 is polymorphic but not mutated in tumours. (PMID: 8761439) Krutovskikh V. … Yamasaki H. (Carcinogenesis 1996) 3 4 23
  3. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. (PMID: 9843209) Richard G. … Bale S.J. (Nat. Genet. 1998) 2 3 23
  4. Human hemangiosarcomas have a common polymorphism but no mutations in the connexin37 gene. (PMID: 10728596) Saito T. … Yamasaki H. (Int. J. Cancer 2000) 3 4 23
  5. A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development. (PMID: 10447790) Boerma M. … Cotgreave I.A. (J. Intern. Med. 1999) 3 4 23

Products for GJA4 Gene

Sources for GJA4 Gene

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