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Aliases for GJA10 Gene

Aliases for GJA10 Gene

  • Gap Junction Protein Alpha 10 2 3 5
  • Gap Junction Protein, Alpha 10, 62kDa 2 3
  • Connexin 62 2 3
  • CX62 3 4
  • Gap Junction Alpha-10 Protein 3
  • Connexin-62 4

External Ids for GJA10 Gene

Previous GeneCards Identifiers for GJA10 Gene

  • GC01M039264
  • GC01M038347
  • GC01M038803
  • GC01M038742
  • GC01M038743
  • GC01M038998
  • GC01M039009
  • GC01M039102
  • GC06P090661
  • GC06P090604
  • GC06P087823

Summaries for GJA10 Gene

Entrez Gene Summary for GJA10 Gene

  • Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

GeneCards Summary for GJA10 Gene

GJA10 (Gap Junction Protein Alpha 10) is a Protein Coding gene. Among its related pathways are Electric Transmission Across Gap Junctions and Vesicle-mediated transport. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJA9.

UniProtKB/Swiss-Prot for GJA10 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. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity).

Tocris Summary for GJA10 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 GJA10 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJA10 Gene

Genomics for GJA10 Gene

Regulatory Elements for GJA10 Gene

Enhancers for GJA10 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
GH06G090350 1.3 FANTOM5 Ensembl ENCODE 11.3 +456.5 456457 1.5 PKNOX1 ATF1 YY1 GATA2 CREM CEBPB NCOA1 ELF1 ZEB2 MTA1 ENSG00000252891 GJA10 LOC105377891 GC06P090371
GH06G090351 0.7 ENCODE 11.3 +457.5 457488 0.2 CEBPB MAX CEBPG RAD21 YY1 FOXA1 JUND ATF3 HNF4A NFE2 ENSG00000252891 GJA10 GC06P090371 LOC105377891
GH06G089927 0.6 Ensembl 11 +33.6 33600 0.9 ZNF680 ZNF610 ZNF133 JUN CEBPB FOS SPI1 TRIM28 ENSG00000226455 ENSG00000252891 GJA10 CASP8AP2 MDN1 PIR53362 GC06M089899
GH06G089925 0.4 ENCODE 11 +31.5 31508 0.2 CEBPB ENSG00000226455 ENSG00000252891 GJA10 PIR53362 GC06M089899
GH06G089886 0.5 FANTOM5 0.4 -7.7 -7680 0.5 PKNOX1 ZBTB33 NFE2 LOC644269 GJA10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJA10 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJA10 Gene

Chromosome:
6
Start:
89,894,469 bp from pter
End:
89,921,760 bp from pter
Size:
27,292 bases
Orientation:
Plus strand

Genomic View for GJA10 Gene

Genes around GJA10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJA10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJA10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJA10 Gene

Proteins for GJA10 Gene

  • Protein details for GJA10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969M2-CXA10_HUMAN
    Recommended name:
    Gap junction alpha-10 protein
    Protein Accession:
    Q969M2

    Protein attributes for GJA10 Gene

    Size:
    543 amino acids
    Molecular mass:
    61872 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

neXtProt entry for GJA10 Gene

Post-translational modifications for GJA10 Gene

No Post-translational modifications

Other Protein References for GJA10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJA10 Gene

Domains & Families for GJA10 Gene

Gene Families for GJA10 Gene

Protein Domains for GJA10 Gene

Suggested Antigen Peptide Sequences for GJA10 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969M2

UniProtKB/Swiss-Prot:

CXA10_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 GJA10: view

Function for GJA10 Gene

Molecular function for GJA10 Gene

GENATLAS Biochemistry:
gap junction protein alpha 10,31.1kB,(connexin 31.1),expressed in epidermis,mouse Cx 31.1 homolog,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. Involved in tracer coupling between horizontal cells of the retina. May play a role in the regulation of horizontal cell patterning (By similarity).

Gene Ontology (GO) - Molecular Function for GJA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity TAS --
genes like me logo Genes that share ontologies with GJA10: view
genes like me logo Genes that share phenotypes with GJA10: view

Animal Models for GJA10 Gene

MGI Knock Outs for GJA10:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GJA10 (Connexin 62/GJA10)

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for GJA10 Gene

Localization for GJA10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJA10 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 GJA10 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GJA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJA10: view

Pathways & Interactions for GJA10 Gene

genes like me logo Genes that share pathways with GJA10: view

Interacting Proteins for GJA10 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000358358%0d%0a9606.ENSP00000241124%0d%0a9606.ENSP00000290374%0d%0a9606.ENSP00000372295%0d%0a9606.ENSP00000241125%0d%0a9606.ENSP00000343676%0d%0a
Selected Interacting proteins: Q969M2-CXA10_HUMAN ENSP00000358358 for GJA10 Gene via IID STRING

Gene Ontology (GO) - Biological Process for GJA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007276 gamete generation IEA --
GO:0007416 synapse assembly IEA --
GO:0009416 response to light stimulus IEA --
GO:0050908 detection of light stimulus involved in visual perception IEA --
genes like me logo Genes that share ontologies with GJA10: view

No data available for SIGNOR curated interactions for GJA10 Gene

Drugs & Compounds for GJA10 Gene

(10) Drugs for GJA10 Gene - From: ApexBio, DGIdb, IUPHAR, and Tocris

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

(5) Tocris Compounds for GJA10 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

(2) ApexBio Compounds for GJA10 Gene

Compound Action Cas Number
10Panx Panx-1 mimetic inhibitor 955091-53-9
Scrambled 10Panx Panx-1 mimetic inhibitory peptide, blocks pannexin-1 gap junctions 1315378-72-3
genes like me logo Genes that share compounds with GJA10: view

Transcripts for GJA10 Gene

mRNA/cDNA for GJA10 Gene

(1) REFSEQ mRNAs :
(2) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Inhibitory RNA Products

Clone Products

  • R&D Systems cDNA Clones for GJA10 (Connexin 62/GJA10)

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJA10 Gene

No ASD Table

Relevant External Links for GJA10 Gene

GeneLoc Exon Structure for
GJA10
ECgene alternative splicing isoforms for
GJA10

Expression for GJA10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJA10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJA10 Gene

This gene is overexpressed in Testis (x42.3).

Protein differential expression in normal tissues from HIPED for GJA10 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJA10 Gene



Protein tissue co-expression partners for GJA10 Gene

NURSA nuclear receptor signaling pathways regulating expression of GJA10 Gene:

GJA10

SOURCE GeneReport for Unigene cluster for GJA10 Gene:

Hs.334499

mRNA Expression by UniProt/SwissProt for GJA10 Gene:

Q969M2-CXA10_HUMAN
Tissue specificity: Expressed in skeletal muscle and heart.
genes like me logo Genes that share expression patterns with GJA10: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for GJA10 Gene

Orthologs for GJA10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJA10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJA10 34 35
  • 99.39 (n)
dog
(Canis familiaris)
Mammalia GJA10 34 35
  • 87.68 (n)
cow
(Bos Taurus)
Mammalia GJA10 34 35
  • 84.77 (n)
mouse
(Mus musculus)
Mammalia Gja10 34 16 35
  • 83.85 (n)
rat
(Rattus norvegicus)
Mammalia Gja10 34
  • 82.38 (n)
oppossum
(Monodelphis domestica)
Mammalia GJA10 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJA10 34 35
  • 62.31 (n)
lizard
(Anolis carolinensis)
Reptilia GJA10 35
  • 79 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cx52.6 35
  • 48 (a)
ManyToMany
cx52.7 35
  • 44 (a)
ManyToMany
cx39.4 35
  • 34 (a)
ManyToMany
Species where no ortholog for GJA10 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJA10 Gene

ENSEMBL:
Gene Tree for GJA10 (if available)
TreeFam:
Gene Tree for GJA10 (if available)

Paralogs for GJA10 Gene

Paralogs for GJA10 Gene

(11) SIMAP similar genes for GJA10 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GJA10: view

Variants for GJA10 Gene

Sequence variations from dbSNP and Humsavar for GJA10 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000027308 -- 89,893,890(+) CCAAC(A/G)TGCTT upstream-variant-2KB
rs1000059871 -- 89,893,664(+) TCTTT(A/G)CTGCT upstream-variant-2KB
rs1002764882 -- 89,893,932(+) CTTTC(C/T)AGGAA upstream-variant-2KB
rs1003766966 -- 89,892,587(+) GTGAG(A/G)TCTGG upstream-variant-2KB
rs1004708080 -- 89,892,682(+) ATTTA(-/T)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GJA10 Gene

Variant ID Type Subtype PubMed ID
esv3609910 CNV loss 21293372
esv3890901 CNV gain 25118596
nsv604125 CNV gain 21841781

Variation tolerance for GJA10 Gene

Residual Variation Intolerance Score: 56.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJA10 Gene

Human Gene Mutation Database (HGMD)
GJA10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJA10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJA10 Gene

Disorders for GJA10 Gene

Relevant External Links for GJA10

Genetic Association Database (GAD)
GJA10
Human Genome Epidemiology (HuGE) Navigator
GJA10
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJA10

No disorders were found for GJA10 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GJA10 Gene

Publications for GJA10 Gene

  1. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood H.D. … Lan Q. (Occup Environ Med 2009) 3 46 64
  2. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. (PMID: 12881038) Soehl G. … Willecke K. (Cell Commun. Adhes. 2003) 3 4 64
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 4 64
  4. Structural and functional diversity of connexin genes in the mouse and human genome. (PMID: 12108537) Willecke K. … Soehl G. (Biol. Chem. 2002) 4 64

Products for GJA10 Gene

Sources for GJA10 Gene

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