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Aliases for GJA4 Gene

Aliases for GJA4 Gene

  • Gap Junction Protein Alpha 4 2 3 5
  • Gap Junction Protein, Alpha 4, 37kDa 2 3
  • Connexin-37 3 4
  • CX37 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
  • Connexin 37 2

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) is a Protein Coding gene. Diseases associated with GJA4 include Erythrokeratodermia Variabilis Et Progressiva 1 and Myocardial Infarction. Among its related pathways are Development Slit-Robo signaling and Cell adhesion_Endothelial cell contacts by junctional mechanisms. An important paralog of this gene is GJA1.

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 (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 GJA4 Gene

Additional gene information for GJA4 Gene

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

Genomics for GJA4 Gene

Regulatory Elements for GJA4 Gene

Enhancers for GJA4 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
GH01H034842 1.5 Ensembl ENCODE dbSUPER 4.9 +51.6 51595 3.9 PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ELK1 ATF7 ZC3H11A ENSG00000230163 SMIM12 GJA4 GC01P034835
GH01H034869 0.6 dbSUPER 11.1 +79.1 79121 5.2 NFIC MXI1 CTBP1 RFX1 POLR2A NFIB MNT GJA4 ENSG00000255811 GJB3 GJB4 ENSG00000230163 NCDN GC01P034879 SMIM12
GH01H034835 0.4 Ensembl 7.7 +43.0 43043 0.4 MNT NR2F2 GJB3 GJA4 GC01P034835 ENSG00000230163
GH01H034831 0.4 dbSUPER 5.2 +39.0 39020 1.7 EED SMIM12 GJB4 GJA4 GC01P034835
GH01H034825 1.1 Ensembl ENCODE 0.3 +32.7 32678 0.9 FOXA2 ARID4B SIN3A RAD21 RARA YY1 FOS RCOR1 CREM EGR2 GJB3 GJB4 SMIM12 GC01P034835 GJA4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJA4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GJA4 Gene

Genomic Locations for GJA4 Gene
2,793 bases
Plus strand

Genomic View for GJA4 Gene

Genes around GJA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Recommended name:
    Gap junction alpha-4 protein
    Protein Accession:
    Secondary Accessions:
    • A8K698
    • D3DPR4
    • Q9P106
    • Q9UBL1
    • Q9UNA9
    • Q9UNB0
    • Q9UNB1
    • Q9Y5N7

    Protein attributes for GJA4 Gene

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

neXtProt entry for GJA4 Gene

Post-translational modifications for GJA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJA4 Gene

No data available for DME Specific Peptides for GJA4 Gene

Domains & Families for GJA4 Gene

Gene Families for GJA4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for GJA4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the connexin family. Alpha-type (group II) subfamily.
  • 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.

Phenotypes From GWAS Catalog for GJA4 Gene

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:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets 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

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 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:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 7680674
GO:0005921 gap junction IEA,TAS 7680674
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GJA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJA4 Gene

Pathways & Interactions for GJA4 Gene

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

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

No data available for SIGNOR curated interactions for GJA4 Gene

Drugs & Compounds for GJA4 Gene

(12) Drugs for GJA4 Gene - From: DGIdb, IUPHAR, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 1
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator 0

(1) Additional Compounds for GJA4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(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
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:

Inhibitory RNA Products

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

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

Relevant External Links for GJA4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.7).

Protein differential expression in normal tissues from HIPED for GJA4 Gene

This gene is overexpressed in Islet of Langerhans (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJA4 Gene

Protein tissue co-expression partners for GJA4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GJA4 Gene:


SOURCE GeneReport for Unigene cluster for GJA4 Gene:


mRNA Expression by UniProt/SwissProt for GJA4 Gene:

Tissue specificity: Expressed in multiple organs and tissues, including heart, uterus, ovary, and blood vessel endothelium.

Evidence on tissue expression from TISSUES for GJA4 Gene

  • Spleen(4.2)
  • Pancreas(4.1)
  • Heart(2.8)
  • Muscle(2.6)
genes like me logo Genes that share expression patterns with GJA4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GJA4 Gene

Orthologs for GJA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GJA4 34 33
  • 99.3 (n)
(Bos Taurus)
Mammalia GJA4 34 33
  • 90.29 (n)
(Canis familiaris)
Mammalia GJA4 34 33
  • 89.99 (n)
(Mus musculus)
Mammalia Gja4 34 16 33
  • 87.09 (n)
(Rattus norvegicus)
Mammalia Gja4 33
  • 86.19 (n)
(Monodelphis domestica)
Mammalia GJA4 34
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia GJA4 34
  • 69 (a)
(Gallus gallus)
Aves GJA4 33 34
  • 73.13 (n)
(Anolis carolinensis)
Reptilia GJA4 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gja4 33
  • 62.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397866 33
(Danio rerio)
Actinopterygii cx28.9 34
  • 52 (a)
cx32.3 34
  • 49 (a)
cx28.1 34
  • 47 (a)
cx34.5 34
  • 47 (a)
cx32.2 34
  • 45 (a)
cx43 34
  • 42 (a)
Species where no ortholog for GJA4 was found in the sources mined by GeneCards:
  • 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

Gene Tree for GJA4 (if available)
Gene Tree for GJA4 (if available)

Paralogs for GJA4 Gene

Paralogs for GJA4 Gene

(19) SIMAP similar genes for GJA4 Gene using alignment to 2 proteins: 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
rs1000583073 -- 34,795,506(+) GCTGA(C/T)CCAGA intron-variant, utr-variant-3-prime
rs1001594198 -- 34,791,735(+) CCCAC(A/G)AAGTA intron-variant, upstream-variant-2KB
rs1003375913 -- 34,793,347(+) AAAAG(A/G)CAAGA intron-variant, splice-donor-variant
rs1003404658 -- 34,792,874(+) TTAGG(A/G)AGTCT intron-variant, upstream-variant-2KB
rs1004597042 -- 34,793,209(+) CCTTG(A/G)CCAGG intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv945876 CNV duplication 23825009
nsv1012995 CNV gain 25217958
esv1003104 CNV deletion 20482838

Variation tolerance for GJA4 Gene

Residual Variation Intolerance Score: 70.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.49; 82.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJA4 Gene

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

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

Disorders for GJA4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GJA4 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythrokeratodermia variabilis et progressiva 1
  • erythrokeratodermia variabilis
myocardial infarction
  • myocardial infarction, protection against
first-degree atrioventricular block
  • first degree atrioventricular block
oculodentodigital dysplasia
  • odd syndrome
  • arteriosclerosis
- elite association - COSMIC cancer census association via MalaCards
Search GJA4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GJA4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with GJA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 KE … Beyer EC (The Journal of clinical investigation 1993) 2 3 4 22 60
  2. Association of connexin 37 gene polymorphisms with risk of coronary artery disease in northern Han Chinese. (PMID: 18073482) Han Y … Kang J (Cardiology 2008) 3 22 45 60
  3. The influence of smoking and homocysteine on subclinical atherosclerosis is modified by the connexin37 C1019T polymorphism - The Cardiovascular Risk in Young Finns Study. (PMID: 18605953) Collings A … Lehtimäki TJ (Clinical chemistry and laboratory medicine 2008) 3 22 45 60
  4. Sex differences in environmental and genetic factors for hypertension. (PMID: 18724972) Ruixing Y … Yuming C (The American journal of medicine 2008) 3 22 45 60
  5. [Association of C1019T polymorphism in the connexin 37 gene and coronary artery disease in Chinese Han population]. (PMID: 17418016) Han YL … Kang J (Zhonghua yi xue za zhi 2007) 3 22 45 60

Products for GJA4 Gene

Sources for GJA4 Gene

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