Free for academic non-profit institutions. Other users need a Commercial license

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 3 4
  • CX36 3 4
  • GJA9 3 4
  • Gap Junction Protein, Alpha 9, 36kDa 2
  • Gap Junction Delta-2 Protein 3
  • Connexin 36 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 Degenerative Myopia. Among its related pathways are Signaling in Gap Junctions and Electric Transmission Across Gap Junctions. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJA8.

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 CIViC summary , 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 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
GH15G034718 1.4 Ensembl ENCODE dbSUPER 20.3 +30.3 30289 11.9 TBP SIN3A NFXL1 RAD21 RFX5 GATA2 RCOR1 FOS EGR2 SP3 GJD2 ACTC1 LOC101928174 AQR LINC02252
GH15G034708 1.1 ENCODE dbSUPER 18 +45.6 45595 2.0 HDAC1 CTCF CBX3 ATF1 WRNIP1 RAD21 CHAMP1 RFX5 FOSL1 ZNF316 GJD2 ACTC1 LOC101928174 AQR LINC02252
GH15G034808 1.4 Ensembl ENCODE dbSUPER 10.9 -56.3 -56268 6.4 HDAC1 TBP FOXA2 SIN3A BRCA1 RAD21 KAT2B YY1 RFX5 FOS GJD2 LOC101928174 GC15M034809 GC15P034846
GH15G034701 1 dbSUPER 11.2 +53.1 53088 1.4 ATF1 ZNF766 CBX5 KLF13 CAVIN1 JUNB TBX21 ZNF592 MEF2D CREB3 GJD2 LOC101928174 ACTC1 LINC02252
GH15G034807 0.6 ENCODE dbSUPER 10.8 -53.0 -53011 0.0 EMSY GJD2 LOC101928174 GC15M034809 GC15P034846
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJD2 Gene

Chromosome:
15
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

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:
    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.

    Three dimensional structures from OCA and Proteopedia for GJD2 Gene

neXtProt entry for GJD2 Gene

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

Q9UKL4

UniProtKB/Swiss-Prot:

CXD2_HUMAN :
  • Belongs to the connexin family. Delta-type subfamily.
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 --
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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 GJD2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 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: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 GJD2: view

Pathways & Interactions for GJD2 Gene

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

Pathways by source 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:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0007601 visual perception IEA --
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

(12) Drugs for GJD2 Gene - From: ApexBio, 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
Gap19 Pharma Cx43 hemichannel blocker 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 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
Gap19 Cx43 hemichannel blocker 1507930-57-5

(3) ApexBio Compounds for GJD2 Gene

Compound Action Cas Number
GAP-134 Gap junction modifier 943134-39-2
GAP-134 Hydrochloride Gap-junction modifier,potent and selective 943133-81-1
Gap19 1507930-57-5
genes like me logo Genes that share compounds with GJD2: view

Drug Products

Transcripts for GJD2 Gene

mRNA/cDNA for GJD2 Gene

(2) 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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for GJD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GJD2 Gene:

GJD2

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.

Evidence on tissue expression from TISSUES for GJD2 Gene

  • Eye(2.6)
  • Nervous system(2.5)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with GJD2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GJD2 Gene

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 35
  • 100 (a)
OneToOne
GJD2 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia CX36 35
  • 97 (a)
OneToOne
GJD2 34
  • 94.08 (n)
oppossum
(Monodelphis domestica)
Mammalia GJD2 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJD2 34 35
  • 93.77 (n)
mouse
(Mus musculus)
Mammalia Gjd2 34 16 35
  • 91.38 (n)
rat
(Rattus norvegicus)
Mammalia Gjd2 34
  • 91.17 (n)
chicken
(Gallus gallus)
Aves GJD2 34 35
  • 78.44 (n)
lizard
(Anolis carolinensis)
Reptilia GJD2 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd2 34
  • 77.45 (n)
zebrafish
(Danio rerio)
Actinopterygii GJD2 (1 of 2) 35
  • 84 (a)
OneToMany
cx35b 34 35
  • 76.13 (n)
gja9 34
Species where no ortholog for GJD2 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)
  • 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

(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
rs1000124514 -- 34,756,225(+) CCCAG(A/G)GACTG intron-variant, upstream-variant-2KB
rs1000155499 -- 34,756,005(+) GCTGG(C/T)AGTGT intron-variant, upstream-variant-2KB
rs1000561441 -- 34,752,742(+) CAGGG(A/G)TAGCG reference, synonymous-codon
rs1001796354 -- 34,754,966(+) CGAGC(A/G)CGCGG upstream-variant-2KB
rs1001825887 -- 34,754,727(+) GAGAG(C/G)GCACG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
esv3569431 CNV gain 25503493
nsv522411 CNV gain 19592680
nsv569133 CNV gain 21841781

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)
GJD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJD2

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

Disorders for GJD2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
degenerative myopia
  • degenerative progressive high myopia
eye degenerative disease
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)
GJD2
Human Genome Epidemiology (HuGE) Navigator
GJD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJD2
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 22 64
  2. 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 46 64
  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 22 64
  4. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. (PMID: 16876983) Hempelmann A. … Sander T. (Epilepsy Res. 2006) 3 22 64
  5. 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 22 64

Products for GJD2 Gene

Sources for GJD2 Gene

Content
Loading form....