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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 and Myocardial Infarction. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. 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

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

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
GH01F034858 1.2 ENCODE 10.9 +66.5 66485 2.3 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZMYM1 RPL5P4 SFPQ LOC653160 ENSG00000230163 GJA4 TMEM35B SMIM12 GC01P034859
GH01F035553 1.2 ENCODE 10.7 +763.9 763908 6.0 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A YBX1 FEZF1 ZMYM1 RPL5P4 SFPQ TMEM35B LOC653160 EVA1B LOC100419802 ENSG00000232335 RPL12P45 ENSG00000255811
GH01F035640 1.1 ENCODE 10.7 +848.6 848553 2.6 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZMYM1 SFPQ ENSG00000230163 TFAP2E LOC653160 LOC105378647 EVA1B C1orf216 RPL5P4 THRAP3
GH01F034842 1.3 Ensembl ENCODE 4.9 +51.6 51595 3.9 ATF1 ARNT ELK1 GATA2 NCOA1 CREB3 MBD2 MEF2D SMARCA4 MYNN ENSG00000230163 SMIM12 GJA4 GC01P034835
GH01F034835 0.5 Ensembl 7.7 +43.0 43043 0.8 MNT RAD21 NR2F2 GJB3 GJA4 GC01P034835 ENSG00000230163
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJA4 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJA4 Gene

Chromosome:
1
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

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:
    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

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

Suggested Antigen Peptide Sequences for GJA4 Gene

Graphical View of Domain Structure for InterPro Entry

P35212

UniProtKB/Swiss-Prot:

CXA4_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 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for GJA4

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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 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

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, 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

(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
Gap19 Cx43 hemichannel blocker 1507930-57-5
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

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and 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:

GJA4

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 expression patterns with GJA4: view

Primer Products

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 34 35
  • 99.3 (n)
cow
(Bos Taurus)
Mammalia GJA4 34 35
  • 90.29 (n)
dog
(Canis familiaris)
Mammalia GJA4 34 35
  • 89.99 (n)
mouse
(Mus musculus)
Mammalia Gja4 34 16 35
  • 87.09 (n)
rat
(Rattus norvegicus)
Mammalia Gja4 34
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia GJA4 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GJA4 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJA4 34 35
  • 73.13 (n)
lizard
(Anolis carolinensis)
Reptilia GJA4 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gja4 34
  • 62.85 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397866 34
zebrafish
(Danio rerio)
Actinopterygii cx28.9 35
  • 52 (a)
ManyToMany
cx32.3 35
  • 49 (a)
ManyToMany
cx28.1 35
  • 47 (a)
ManyToMany
cx34.5 35
  • 47 (a)
ManyToMany
cx32.2 35
  • 45 (a)
ManyToMany
cx43 35
  • 42 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for GJA4 (if available)
TreeFam:
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.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
rs1051167 -- 34,794,608(+) AGAGC(A/G/T)TCAGA intron-variant, reference, missense
rs113528584 -- 34,792,187(+) AGCAG(C/T)GTCTG intron-variant, upstream-variant-2KB
rs113888325 -- 34,795,368(+) TCTTG(A/G)ACACC intron-variant, utr-variant-3-prime
rs113974864 -- 34,795,116(+) CTGGC(A/G/T)TCTTC intron-variant, reference, synonymous-codon
rs114092046 -- 34,791,022(+) AGCTT(A/C)TTCAT intron-variant, upstream-variant-2KB

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

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

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)
GJA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJA4

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: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
erythrokeratodermia variabilis et progressiva
  • erythrokeratodermia variabilis with erythema gyratum repens
myocardial infarction
  • myocardial infarction, protection against
first-degree atrioventricular block
  • first degree atrioventricular block
oculodentodigital dysplasia
  • odd syndrome
atherosclerosis
  • 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)
GJA4
Human Genome Epidemiology (HuGE) Navigator
GJA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJA4
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 K.E. … Beyer E.C. (J. Clin. Invest. 1993) 2 3 4 22 64
  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 46 64
  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. … LehtimAoki T.J. (Clin. Chem. Lab. Med. 2008) 3 22 46 64
  4. Sex differences in environmental and genetic factors for hypertension. (PMID: 18724972) Ruixing Y. … Yuming C. (Am. J. Med. 2008) 3 22 46 64
  5. [Association of C1019T polymorphism in the connexin 37 gene and coronary artery disease in Chinese Han population]. (PMID: 17418016) Han Y.L. … Kang J. (Zhonghua Yi Xue Za Zhi 2007) 3 22 46 64

Products for GJA4 Gene

Sources for GJA4 Gene

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