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. [pr... See more...

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 Delta-2 Protein 3 4
  • Gap Junction Alpha-9 Protein 3 4
  • Connexin-36 3 4
  • CX36 2 3
  • GJA9 3 4
  • Gap Junction Protein, Alpha 9, 36kDa 2
  • Connexin 36 2
  • GJD2 5
  • Cx36 4

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 G-Beta Gamma Signaling and Electric Transmission Across Gap Junctions. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for GJD2 Gene

Genomics for GJD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GJD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J034754 Promoter 1 EPDnew Ensembl 250.7 0.0 -2 0.8 RAD21 EZH2 PRDM10 POLR2A BACH1 CTCF ZBTB20 ZNF335 ZBTB26 ENSG00000250007 GJD2 LOC101928174 ACTC1
GH15J034753 Enhancer 0.7 Ensembl 250.7 +1.5 1547 0.5 IKZF1 REST ETS1 SIN3A ZNF511 SAP130 ZSCAN9 RAD21 ZNF143 MYRF ENSG00000250007 GJD2 LOC101928174 HSALNG0104979 GOLGA8B
GH15J034755 Promoter 0.4 Ensembl 250.7 +0.7 697 0.2 EZH2 ENSG00000250007 GJD2 LOC101928174 HSALNG0104979 GOLGA8B
GH15J034718 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.3 +30.3 30321 11.9 ZNF600 ZIC2 CEBPB CTCF MAX EP300 MAFF RXRA RAD21 RFX5 HSALNG0104978 GJD2 ACTC1 ENSG00000250007 AQR LINC02252 lnc-NUTM1-1 lnc-GJD2-1 GOLGA8B
GH15J034708 Enhancer 1.1 Ensembl ENCODE dbSUPER 18 +45.6 45630 2.1 ZNF654 JUND REST CTCF RAD21 RFX5 SMC3 MYNN ATF1 MAFK GJD2 ACTC1 ENSG00000250007 AQR HSALNG0104976 LINC02252 lnc-GJD2-1 GOLGA8B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJD2

Top Transcription factor binding sites by QIAGEN in the GJD2 gene promoter:
  • Bach1
  • CREB
  • deltaCREB
  • MyoD

Genomic Locations for GJD2 Gene

Latest Assembly
chr15:34,751,032-34,754,998
(GRCh38/hg38)
Size:
3,967 bases
Orientation:
Minus strand

Previous Assembly
chr15:35,043,233-35,047,199
(GRCh37/hg19 by Entrez Gene)
Size:
3,967 bases
Orientation:
Minus strand

chr15:35,043,233-35,047,166
(GRCh37/hg19 by Ensembl)
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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for GJD2 Gene

InterPro:
Blocks:
  • Connexin, N terminal
  • Connexin36 (Cx36) signature

Suggested Antigen Peptide Sequences for GJD2 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction protein (B7ZLG3_HUMAN)
  • Gap junction alpha-9 protein (CXD2_HUMAN)

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.

Phenotypes From GWAS Catalog for GJD2 Gene

Gene Ontology (GO) - Molecular Function for GJD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IBA 21873635
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJD2

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 2
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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 IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) 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

1 GeneGo (Thomson Reuters) pathway for GJD2 Gene
  • Cell adhesion Gap junctions
3 Qiagen pathways for GJD2 Gene
  • Signaling in Gap Junctions
  • Signaling in Gap Junctions
  • Transcriptional Regulatory Network in Embryonic Stem Cell

Gene Ontology (GO) - Biological Process for GJD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA,IBA 21873635
GO:0055085 transmembrane transport 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

(11) Drugs for GJD2 Gene - From: ApexBio, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Inhibitor Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 0
Carbenoxolone Experimental Pharma Inhibitor 0
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Inhibitor 0
Gap19 Pharma 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

(1) ApexBio Compounds for GJD2 Gene

Compound Action Cas Number
Gap19 1507930-57-5
genes like me logo Genes that share compounds with GJD2: view

Drug products for research

Transcripts for GJD2 Gene

mRNA/cDNA for GJD2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJD2

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

No ASD Table

Relevant External Links for GJD2 Gene

GeneLoc Exon Structure for
GJD2

Expression for GJD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for GJD2 Gene



Protein tissue co-expression partners for GJD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(2.7)
  • Nervous system(2.5)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with GJD2: view

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 30
  • 100 (a)
OneToOne
GJD2 29
  • 99.69 (n)
Dog
(Canis familiaris)
Mammalia CX36 30
  • 97 (a)
OneToOne
GJD2 29
  • 94.08 (n)
Oppossum
(Monodelphis domestica)
Mammalia GJD2 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia GJD2 29 30
  • 93.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gjd2 29 16 30
  • 91.38 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gjd2 29
  • 91.17 (n)
Chicken
(Gallus gallus)
Aves GJD2 29 30
  • 78.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GJD2 30
  • 91 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gjd2 29
  • 77.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii GJD2 (1 of 2) 30
  • 84 (a)
OneToMany
cx35b 29 30
  • 76.13 (n)
OneToMany
gja9 29
Species where no ortholog for GJD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for GJD2: view image
Alliance of Genome Resources:
Additional Orthologs for GJD2

Paralogs for GJD2 Gene

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

  • CXD2_HUMAN
  • B7ZLG3_HUMAN
genes like me logo Genes that share paralogs with GJD2: view

Variants for GJD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJD2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs150471636 Benign: not provided 34,753,049(-) C/G
NM_020660.3(GJD2):c.395G>C (p.Gly132Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GJD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GJD2 Gene

Human Gene Mutation Database (HGMD)
GJD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJD2
Leiden Open Variation Database (LOVD)
GJD2

SNP Genotyping and Copy Number Assays for research

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

Disorders for GJD2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for GJD2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
degenerative myopia
  • degenerative progressive high myopia
essential tremor
  • benign essential tremor
myopia
  • near vision
oculodentodigital dysplasia
  • oddd
- elite association - COSMIC cancer census association via MalaCards
Search GJD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GJD2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 DF (Journal of neuroscience research 1999) 2 3 4 22
  2. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. (PMID: 20835239) Solouki AM … Klaver CC (Nature genetics 2010) 3 40
  3. Cx36 makes channels coupling human pancreatic beta-cells, and correlates with insulin expression. (PMID: 19000992) Serre-Beinier V … Meda P (Human molecular genetics 2009) 3 22
  4. Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. (PMID: 16876983) Hempelmann A … Sander T (Epilepsy research 2006) 3 22
  5. Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. (PMID: 16211561) Dobrenis K … Scemes E (Journal of neuroscience research 2005) 3 22

Products for GJD2 Gene

Sources for GJD2 Gene