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Aliases for GJD2 Gene

Aliases for GJD2 Gene

  • Gap Junction Protein, Delta 2, 36kDa 2 3
  • CX36 3 4 6
  • GJA9 3 4 6
  • Gap Junction Alpha-9 Protein 3 4
  • Connexin 36 2 3
  • Connexin-36 3 4
  • Gap Junction Protein, Alpha 9, 36kDa 2
  • Gap Junction Delta-2 Protein 3

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, 36kDa) is a Protein Coding gene. Diseases associated with GJD2 include refractive error and peripheral neuropathy. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

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 (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 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

Epigenetics Products

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

Genomic Location for GJD2 Gene

Start:
34,751,032 bp from pter
End:
34,754,965 bp from pter
Size:
3,934 bases
Orientation:
Minus strand

Genomic View for GJD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9UKL4-CXD2_HUMAN
    Recommended name:
    Gap junction delta-2 protein
    Protein Accession:
    Q9UKL4
    Secondary Accessions:
    • Q2M241
    • Q9P2R0

    Protein attributes for GJD2 Gene

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

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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJD2 Gene

Domains for GJD2 Gene

Gene Families for GJD2 Gene

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

Suggested Antigen Peptide Sequences for GJD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UKL4

UniProtKB/Swiss-Prot:

CXD2_HUMAN :
  • Q9UKL4
Family:
  • 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

Gene Ontology (GO) - Molecular Function for GJD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity TAS --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with GJD2: view
genes like me logo Genes that share phenotypes with GJD2: view

Animal Models for GJD2 Gene

MGI Knock Outs for GJD2:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJD2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

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

Gene Ontology (GO) - Cellular Components for GJD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJD2: view

Pathways for GJD2 Gene

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

Pathways by source for GJD2 Gene

1 KEGG pathway for GJD2 Gene
1 GeneGo (Thomson Reuters) pathway for GJD2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for GJD2 Gene

Gene Ontology (GO) - Biological Process for GJD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential IEA --
GO:0007267 cell-cell signaling --
GO:0007268 synaptic transmission TAS --
GO:0007601 visual perception IEA --
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with GJD2: view

Compounds for GJD2 Gene

(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]

(4) IUPHAR Ligand for GJD2 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None

(2) Novoseek inferred chemical compound relationships for GJD2 Gene

Compound -log(P) Hits PubMed IDs
gaba 9.01 2
dopamine 7.1 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJD2

Primer Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for GJD2 Gene

GeneLoc Exon Structure for
GJD2
ECgene alternative splicing isoforms for
GJD2

Expression for GJD2 Gene

mRNA expression in normal human tissues for GJD2 Gene

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

This gene is overexpressed in Heart - Atrial Appendage (13.2), Pituitary (8.3), and Pancreas (5.0).

Integrated Proteomics: protein expression 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

Q9UKL4-CXD2_HUMAN
Tissue specificity: Highly expressed in neurons
genes like me logo Genes that share expressions with GJD2: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CX36 36
  • 100 (a)
OneToOne
GJD2 35
  • 99.69 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GJD2 35
  • 93.77 (n)
  • 98.75 (a)
GJD2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CX36 36
  • 97 (a)
OneToOne
GJD2 35
  • 94.08 (n)
  • 96.57 (a)
mouse
(Mus musculus)
Mammalia Gjd2 35
  • 91.38 (n)
  • 98.13 (a)
Gjd2 16
Gjd2 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GJD2 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjd2 35
  • 91.17 (n)
  • 97.82 (a)
chicken
(Gallus gallus)
Aves GJD2 35
  • 78.44 (n)
  • 91.09 (a)
GJD2 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJD2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd2 35
  • 77.45 (n)
  • 91.09 (a)
zebrafish
(Danio rerio)
Actinopterygii cx35b 35
  • 76.13 (n)
  • 87.79 (a)
cx35b 36
  • 88 (a)
OneToMany
gja9 35
GJD2 (1 of 2) 36
  • 84 (a)
OneToMany
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

ENSEMBL:
Gene Tree for GJD2 (if available)
TreeFam:
Gene Tree for GJD2 (if available)

Paralogs for GJD2 Gene

Paralogs for GJD2 Gene

Selected 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 MAF
rs572193 -- 34,751,955(+) TTCTG(A/G)AAAAA downstream-variant-500B
rs3743123 -- 34,752,856(-) ATCTC(C/T)CGCTT reference, synonymous-codon
rs7173113 -- 34,752,355(+) TTTAT(C/G)CAGTC downstream-variant-500B
rs12917031 -- 34,752,836(+) ACACC(A/T)CTTGG missense, reference
rs34964522 -- 34,752,556(+) CGAAT(C/T)TCATA synonymous-codon, reference

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

Variant ID Type Subtype PubMed ID
nsv522411 CNV Gain 19592680

Relevant External Links for GJD2 Gene

HapMap Linkage Disequilibrium report
GJD2
Human Gene Mutation Database (HGMD)
GJD2

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

Disorders for GJD2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for GJD2 Gene including...

Search for GJD2 Gene in MalaCards »

(1) Novoseek inferred disease relationships for GJD2 Gene

Disease -log(P) Hits PubMed IDs
necrosis 0 1

Relevant External Links for GJD2

Genetic Association Database (GAD)
GJD2
Human Genome Epidemiology (HuGE) Navigator
GJD2
genes like me logo Genes that share disorders with GJD2: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. 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
  4. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. (PMID: 20835239) Solouki A.M. … Klaver C.C. (Nat. Genet. 2010) 3 48
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for GJD2 Gene

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