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Aliases for GJD2 Gene

Aliases for GJD2 Gene

  • 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, 36kDa) 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 Vesicle-mediated transport 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 (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

Epigenetics Products

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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

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

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 --
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:

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) , 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
Jensen Localization Image for GJD2 Gene COMPARTMENTS Subcellular localization image for GJD2 gene
Compartment Confidence
plasma membrane 5
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 & Interactions 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:0007154 cell communication --
GO:0007267 cell-cell signaling --
GO:0007268 synaptic transmission TAS --
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

(10) Drugs for GJD2 Gene - From: NovoSeek, IUPHAR, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist 2814
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 0
Ca<sup>2+</sup> Pharma Antagonist 0
octanol Pharma Inhibitor 0

(1) Additional Compounds for GJD2 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
gaba
56-12-2
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

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 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

Q9UKL4-CXD2_HUMAN
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

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
cow
(Bos Taurus)
Mammalia GJD2 35
  • 93.77 (n)
  • 98.75 (a)
GJD2 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJD2 35
  • 94.08 (n)
  • 96.57 (a)
CX36 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjd2 35
  • 91.38 (n)
  • 98.13 (a)
Gjd2 16
Gjd2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJD2 35
  • 99.69 (n)
  • 100 (a)
CX36 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjd2 35
  • 91.17 (n)
  • 97.82 (a)
oppossum
(Monodelphis domestica)
Mammalia GJD2 36
  • 95 (a)
OneToOne
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)
gja9 35
cx35b 36
  • 88 (a)
OneToMany
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

(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 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

Variation tolerance for GJD2 Gene

Residual Variation Intolerance Score: 27.64% 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

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

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

Disorder Aliases PubMed IDs
refractive error
  • eye refraction disorder
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association
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 23 67
  2. Unique expression of connexins in the human cochlea. (PMID: 19450429) Liu W. … Rask-Andersen H. (Hear. Res. 2009) 23 67
  3. Trifluoroethanol reveals helical propensity at analogous positions in cytoplasmic domains of three connexins. (PMID: 19226516) Fort A.G. … Spray D.C. (Biopolymers 2009) 23 67
  4. The extracellular matrix controls gap junction protein expression and function in postnatal hippocampal neural progenitor cells. (PMID: 19236721) Imbeault S. … Bennett S.A. (BMC Neurosci 2009) 23 67
  5. Cell-cell interactions in the endocrine pancreas. (PMID: 19817798) Jain R. … Lammert E. (Diabetes Obes Metab 2009) 23 67

Products for GJD2 Gene

Sources for GJD2 Gene

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