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Aliases for GJD3 Gene

Aliases for GJD3 Gene

  • Gap Junction Protein, Delta 3, 31.9kDa 2 3
  • CX31.9 3 4 6
  • GJC1 3 4 6
  • Gap Junction Alpha-11 Protein 3 4
  • Gap Junction Chi-1 Protein 3 4
  • Connexin 31.9 2 3
  • Connexin-31.9 3 4
  • GJA11 3 4
  • Gap Junction Protein, Chi 1, 31.9kDa 2
  • Gap Junction Delta-3 Protein 3
  • CX30.2 3

External Ids for GJD3 Gene

Previous HGNC Symbols for GJD3 Gene

  • GJC1

Previous GeneCards Identifiers for GJD3 Gene

  • GC17M035771
  • GC17M038516
  • GC17M034313

Summaries for GJD3 Gene

Entrez Gene Summary for GJD3 Gene

  • This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJD3 Gene

GJD3 (Gap Junction Protein, Delta 3, 31.9kDa) is a Protein Coding gene. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include ion channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJD3 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 GJD3 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 GJD3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJD3 Gene

Genomics for GJD3 Gene

Regulatory Elements for GJD3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GJD3 Gene

40,360,652 bp from pter
40,364,693 bp from pter
4,042 bases
Minus strand

Genomic View for GJD3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJD3 Gene

Proteins for GJD3 Gene

  • Protein details for GJD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction delta-3 protein
    Protein Accession:
    Secondary Accessions:
    • Q6ZUW6

    Protein attributes for GJD3 Gene

    294 amino acids
    Molecular mass:
    31933 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1.

    Alternative splice isoforms for GJD3 Gene


neXtProt entry for GJD3 Gene

Proteomics data for GJD3 Gene at MOPED

Post-translational modifications for GJD3 Gene

No Post-translational modifications

Other Protein References for GJD3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GJD3 Gene

Domains for GJD3 Gene

Gene Families for GJD3 Gene

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

Protein Domains for GJD3 Gene

Suggested Antigen Peptide Sequences for GJD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q8N144
  • Belongs to the connexin family. Delta-type subfamily.
genes like me logo Genes that share domains with GJD3: view

Function for GJD3 Gene

Molecular function for GJD3 Gene

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 GJD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005243 gap junction channel activity IEA --
GO:0005515 protein binding IPI 12154091
genes like me logo Genes that share ontologies with GJD3: view
genes like me logo Genes that share phenotypes with GJD3: view

Animal Models for GJD3 Gene

MGI Knock Outs for GJD3:

miRNA for GJD3 Gene

miRTarBase miRNAs that target GJD3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJD3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GJD3 Gene

Localization for GJD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJD3 Gene

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

Subcellular locations from

Jensen Localization Image for GJD3 Gene COMPARTMENTS Subcellular localization image for GJD3 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GJD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 12154091
GO:0005921 gap junction --
GO:0005922 connexon complex IDA 12154091
GO:0009986 cell surface IDA 12154091
genes like me logo Genes that share ontologies with GJD3: view

Pathways for GJD3 Gene

genes like me logo Genes that share pathways with GJD3: view

Pathways by source for GJD3 Gene

1 PharmGKB pathway for GJD3 Gene
1 GeneGo (Thomson Reuters) pathway for GJD3 Gene

Interacting Proteins for GJD3 Gene

Selected Interacting proteins: Q8N144-CXD3_HUMAN for GJD3 Gene via UniProtKB I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for GJD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication TAS 12154091
GO:0009749 response to glucose IEA --
GO:0016264 gap junction assembly IDA 12154091
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport --
genes like me logo Genes that share ontologies with GJD3: view

Compounds for GJD3 Gene

(5) Tocris Compounds for GJD3 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]

(1) ApexBio Compounds for GJD3 Gene

Compound Action Cas Number
Gap 27 Selective gap junction blocker [198284-64-9]

(4) IUPHAR Ligand for GJD3 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None
genes like me logo Genes that share compounds with GJD3: view

Transcripts for GJD3 Gene

mRNA/cDNA for GJD3 Gene

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

Unigene Clusters for GJD3 Gene

Gap junction protein, delta 3, 31.9kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJD3

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJD3 Gene

No ASD Table

Relevant External Links for GJD3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJD3 Gene

mRNA expression in normal human tissues for GJD3 Gene

mRNA expression in normal human tissues for GJD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for GJD3 Gene Hs.444663

mRNA Expression by UniProt/SwissProt for GJD3 Gene

Tissue specificity: Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.
genes like me logo Genes that share expressions with GJD3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Expression partners for GJD3 Gene

Orthologs for GJD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJD3 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GJD3 35
  • 88.13 (n)
  • 85.61 (a)
(Canis familiaris)
Mammalia GJD3 35
  • 87.17 (n)
  • 85.4 (a)
(Mus musculus)
Mammalia Gjd3 35
  • 81.65 (n)
  • 80.22 (a)
Gjd3 16
Gjd3 36
  • 86 (a)
(Pan troglodytes)
Mammalia GJD3 35
  • 99.2 (n)
  • 99.32 (a)
GJD3 36
  • 86 (a)
(Rattus norvegicus)
Mammalia Gjd3 35
  • 82.25 (n)
  • 80.22 (a)
(Monodelphis domestica)
Mammalia GJD3 36
  • 71 (a)
(Anolis carolinensis)
Reptilia GJD3 36
  • 57 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd3 35
  • 65.24 (n)
  • 64.53 (a)
(Danio rerio)
Actinopterygii CU694757.1 36
  • 35 (a)
Species with no ortholog for GJD3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJD3 Gene

Gene Tree for GJD3 (if available)
Gene Tree for GJD3 (if available)

Paralogs for GJD3 Gene

Paralogs for GJD3 Gene

Selected SIMAP similar genes for GJD3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GJD3: view

Variants for GJD3 Gene

Sequence variations from dbSNP and Humsavar for GJD3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs15685 -- 40,360,719(+) GCTCA(C/T)ATGCT utr-variant-3-prime
rs502041 -- 40,363,039(+) GCGCA(C/G)GGCTC synonymous-codon, reference
rs534176 -- 40,361,795(-) CCCCA(A/G)GCTAT utr-variant-3-prime
rs2923227 -- 40,361,809(-) CGCCG(C/G)TACTG utr-variant-3-prime
rs4420582 -- 40,361,971(+) TGAGG(A/C)CTGCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GJD3 Gene

Variant ID Type Subtype PubMed ID
nsv833445 CNV Loss 17160897
nsv908222 CNV Loss 21882294

Relevant External Links for GJD3 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJD3 Gene

Disorders for GJD3 Gene

No disorders were found for GJD3 Gene.

No data available for MalaCards , OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links for GJD3 Gene

Publications for GJD3 Gene

  1. Virtual cloning, functional expression, and gating analysis of human connexin31.9. (PMID: 12176752) White T.W. … Bruzzone R. (Am. J. Physiol. 2002) 2 3 4
  2. Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. (PMID: 12154091) Nielsen P.A. … Kumar N.M. (J. Biol. Chem. 2002) 3 4 23
  3. Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system. (PMID: 19168070) Kreuzberg M.M. … Willecke K. (J. Mol. Cell. Cardiol. 2009) 3 23
  4. Identification and functional expression of HCx31.9, a novel gap junction gene. (PMID: 12064584) Belluardo N. … Condorelli D.F. (Cell Commun. Adhes. 2001) 3
  5. 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

Products for GJD3 Gene

Sources for GJD3 Gene

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