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Aliases for GJD2 Gene

Aliases for GJD2 Gene

  • Gap Junction Protein Delta 2 2 3 5
  • Gap Junction Protein, Delta 2, 36kDa 2 3
  • Gap Junction Alpha-9 Protein 3 4
  • Connexin 36 2 3
  • Connexin-36 3 4
  • CX36 3 4
  • GJA9 3 4
  • Gap Junction Protein, Alpha 9, 36kDa 2

External Ids for GJD2 Gene

Previous HGNC Symbols for GJD2 Gene

  • GJA9

Previous GeneCards Identifiers for GJD2 Gene

  • GC15M032833
  • GC15M035043
  • GC15M011890

Summaries for GJD2 Gene

Entrez Gene Summary for GJD2 Gene

  • This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]

GeneCards Summary for GJD2 Gene

GJD2 (Gap Junction Protein Delta 2) is a Protein Coding gene. Diseases associated with GJD2 include Refractive Error and Epilepsy, Generalized, With Febrile Seizures Plus, Type 5. Among its related pathways are Myometrial Relaxation and Contraction Pathways and Transmission across Chemical Synapses. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC2.

UniProtKB/Swiss-Prot for GJD2 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 GJD2 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 GJD2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJD2 Gene

Genomics for GJD2 Gene

Regulatory Elements for GJD2 Gene

Enhancers for GJD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GJD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJD2 Gene

34,751,032 bp from pter
34,754,965 bp from pter
3,934 bases
Minus strand

Genomic View for GJD2 Gene

Genes around GJD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJD2 Gene

Proteins for GJD2 Gene

  • Protein details for GJD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction delta-2 protein
    Protein Accession:
    Secondary Accessions:
    • Q2M241
    • Q9P2R0

    Protein attributes for GJD2 Gene

    321 amino acids
    Molecular mass:
    36093 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

    Three dimensional structures from OCA and Proteopedia for GJD2 Gene

neXtProt entry for GJD2 Gene

Proteomics data for GJD2 Gene at MOPED

Post-translational modifications for GJD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJD2 Gene

Domains & Families for GJD2 Gene

Gene Families for GJD2 Gene

Suggested Antigen Peptide Sequences for GJD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the connexin family. Delta-type subfamily.
  • Belongs to the connexin family. Delta-type subfamily.
genes like me logo Genes that share domains with GJD2: view

Function for GJD2 Gene

Molecular function for GJD2 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.
genes like me logo Genes that share phenotypes with GJD2: view

Animal Models for GJD2 Gene

MGI Knock Outs for GJD2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GJD2 Gene

Localization for GJD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJD2 Gene

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

Subcellular locations from

Jensen Localization Image for GJD2 Gene COMPARTMENTS Subcellular localization image for GJD2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for GJD2 Gene

Pathways & Interactions for GJD2 Gene

genes like me logo Genes that share pathways with GJD2: view

Pathways by source for GJD2 Gene

Interacting Proteins for GJD2 Gene

Gene Ontology (GO) - Biological Process for GJD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007268 synaptic transmission IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GJD2: view

No data available for SIGNOR curated interactions for GJD2 Gene

Drugs & Compounds for GJD2 Gene

(10) Drugs for GJD2 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 Activates TRPC6; NSAID 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 GJD2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(5) Tocris Compounds for GJD2 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 GJD2: view

Transcripts for GJD2 Gene

mRNA/cDNA for GJD2 Gene

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

Unigene Clusters for GJD2 Gene

Gap junction protein, delta 2, 36kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GJD2 Gene

No ASD Table

Relevant External Links for GJD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJD2 Gene

mRNA expression in normal human tissues for GJD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJD2 Gene

This gene is overexpressed in Heart - Atrial Appendage (x13.2), Pituitary (x8.3), and Pancreas (x5.0).

Protein differential expression in normal tissues from HIPED for GJD2 Gene

This gene is overexpressed in Retina (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJD2 Gene

SOURCE GeneReport for Unigene cluster for GJD2 Gene Hs.283816

mRNA Expression by UniProt/SwissProt for GJD2 Gene

Tissue specificity: Highly expressed in neurons.
genes like me logo Genes that share expression patterns with GJD2: view

Protein tissue co-expression partners for GJD2 Gene

- Elite partner

Primer Products

Orthologs for GJD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GJD2 35
  • 93.77 (n)
  • 98.75 (a)
GJD2 36
  • 99 (a)
(Canis familiaris)
Mammalia GJD2 35
  • 94.08 (n)
  • 96.57 (a)
CX36 36
  • 97 (a)
(Mus musculus)
Mammalia Gjd2 35
  • 91.38 (n)
  • 98.13 (a)
Gjd2 16
Gjd2 36
  • 98 (a)
(Pan troglodytes)
Mammalia GJD2 35
  • 99.69 (n)
  • 100 (a)
CX36 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Gjd2 35
  • 91.17 (n)
  • 97.82 (a)
(Monodelphis domestica)
Mammalia GJD2 36
  • 95 (a)
(Gallus gallus)
Aves GJD2 35
  • 78.44 (n)
  • 91.09 (a)
GJD2 36
  • 90 (a)
(Anolis carolinensis)
Reptilia GJD2 36
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd2 35
  • 77.45 (n)
  • 91.09 (a)
(Danio rerio)
Actinopterygii cx35b 35
  • 76.13 (n)
  • 87.79 (a)
gja9 35
cx35b 36
  • 88 (a)
GJD2 (1 of 2) 36
  • 84 (a)
Species with no ortholog for GJD2:
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GJD2 Gene

Gene Tree for GJD2 (if available)
Gene Tree for GJD2 (if available)

Paralogs for GJD2 Gene

Paralogs for GJD2 Gene

(11) SIMAP similar genes for GJD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GJD2: view

Variants for GJD2 Gene

Sequence variations from dbSNP and Humsavar for GJD2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs572193 -- 34,751,955(+) TTCTG(A/G)AAAAA downstream-variant-500B
rs7173113 -- 34,752,355(+) TTTAT(C/G)CAGTC downstream-variant-500B
rs57925142 -- 34,751,955(+) TTCTG(-/G)AAAAA downstream-variant-500B
rs58041931 -- 34,751,952(+) AGATT(C/T)TGAAA downstream-variant-500B
rs12917031 -- 34,752,836(+) ACACC(A/T)CTTGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for GJD2 Gene

Variant ID Type Subtype PubMed ID
nsv522411 CNV Gain 19592680

Variation tolerance for GJD2 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJD2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJD2 Gene

Disorders for GJD2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GJD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards
Search GJD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GJD2

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 GJD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GJD2 Gene

Publications for GJD2 Gene

  1. Structure, chromosomal localization, and brain expression of human Cx36 gene. (PMID: 10462698) Belluardo N. … Condorelli D.F. (J. Neurosci. Res. 1999) 2 3 4 23 67
  2. Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression. (PMID: 19000992) Serre-Beinier V. … Meda P. (Hum. Mol. Genet. 2009) 3 23
  3. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. (PMID: 16876983) Hempelmann A. … Sander T. (Epilepsy Res. 2006) 3 23
  4. Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. (PMID: 16211561) Dobrenis K. … Scemes E. (J. Neurosci. Res. 2005) 3 23
  5. Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations. (PMID: 25138779) Mitchell L.E. … Goldmuntz E. (Hum. Mol. Genet. 2015) 3

Products for GJD2 Gene

Sources for GJD2 Gene