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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 3 4
  • GJA9 3 4
  • Gap Junction Protein, Alpha 9, 36kDa 2
  • Gap Junction Delta-2 Protein 3
  • Connexin 36 2
  • CX36 3
  • 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 Development Slit-Robo signaling and Transcriptional Regulatory Network in Embryonic Stem Cell. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for GJD2 Gene

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 0.8 EPDnew 650.7 -0.1 -51 0.1 MXI1 POLR2A ZBTB26 EZH2 ZBTB20 LOC101928174 GJD2
GH15J034718 Enhancer 1.2 Ensembl ENCODE dbSUPER 20.3 +30.3 30288 11.9 RAD21 RFX5 YY1 RCOR1 RXRA CEBPB NR2F2 SP1 MAFF ZNF24 GJD2 ACTC1 LOC101928174 AQR LINC02252
GH15J034708 Enhancer 0.9 ENCODE dbSUPER 18 +45.6 45595 2 HDAC1 CTCF ATF1 RAD21 RFX5 CHAMP1 FOSL1 CC2D1A CTBP1 ZNF143 AQR GJD2 ACTC1 HNRNPLP2 LOC101928174 LINC02252
GH15J034808 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.9 -56.3 -56267 6.4 HDAC1 MXI1 JUN MAX CEBPG EBF1 BRCA1 RFX5 GATA3 ZNF316 GJD2 LOC101928174 GC15M034809 GC15P034846
GH15J034701 Enhancer 0.6 dbSUPER 11.2 +53.1 53088 1.4 BCOR ZBTB21 CEBPB ZMYM3 CEBPG ZIC2 ZNF507 MAFF ZNF316 ZNF629 GJD2 LOC101928174 ACTC1 LINC02252
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for GJD2 Gene

Genomic Locations for GJD2 Gene
chr15:34,751,032-34,754,965
(GRCh38/hg38)
Size:
3,934 bases
Orientation:
Minus strand
chr15:35,043,233-35,047,166
(GRCh37/hg19)
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

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.

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 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

CRISPR Products

Inhibitory RNA Products

  • 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 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

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

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

(13) 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, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
octanol Investigational Pharma Inhibitor 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 0
GAP-134 Pharma Gap junction modifier 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

(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:

CRISPR Products

Inhibitory RNA Products

  • 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
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 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

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 34
  • 100 (a)
OneToOne
GJD2 33
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia CX36 34
  • 97 (a)
OneToOne
GJD2 33
  • 94.08 (n)
oppossum
(Monodelphis domestica)
Mammalia GJD2 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GJD2 34 33
  • 93.77 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gjd2 16 34 33
  • 91.38 (n)
rat
(Rattus norvegicus)
Mammalia Gjd2 33
  • 91.17 (n)
chicken
(Gallus gallus)
Aves GJD2 34 33
  • 78.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJD2 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd2 33
  • 77.45 (n)
zebrafish
(Danio rerio)
Actinopterygii GJD2 (1 of 2) 34
  • 84 (a)
OneToMany
cx35b 34 33
  • 76.13 (n)
OneToMany
gja9 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for GJD2: view image

Paralogs for GJD2 Gene

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 from dbSNP and Humsavar for GJD2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000124514 -- 34,756,225(-) G/A upstream_transcript_variant
rs1000155499 -- 34,756,005(-) C/T upstream_transcript_variant
rs1000561441 -- 34,752,742(-) G/A coding_sequence_variant, synonymous_variant
rs1001796354 -- 34,754,966(-) G/A upstream_transcript_variant
rs1001825887 -- 34,754,727(-) G/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
degenerative myopia
  • degenerative progressive high myopia
myopia
  • near vision
epilepsy, idiopathic generalized 10
  • ejm
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 DF (Journal of neuroscience research 1999) 2 3 4 22 58
  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 44 58
  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 58
  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 58
  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 58

Products for GJD2 Gene

Sources for GJD2 Gene

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