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Aliases for GJD3 Gene

Aliases for GJD3 Gene

  • Gap Junction Protein Delta 3 2 3 5
  • Gap Junction Protein, Delta 3, 31.9kDa 2 3
  • Gap Junction Alpha-11 Protein 3 4
  • Gap Junction Chi-1 Protein 3 4
  • Connexin-31.9 3 4
  • CX31.9 3 4
  • GJA11 3 4
  • GJC1 3 4
  • Gap Junction Protein, Chi 1, 31.9kDa 2
  • Gap Junction Delta-3 Protein 3
  • Connexin 31.9 2
  • CX30.2 3

External Ids for GJD3 Gene

Previous HGNC Symbols for GJD3 Gene

  • GJC1

Previous GeneCards Identifiers for GJD3 Gene

  • GC17M035771
  • GC17M038516
  • GC17M034313

Summaries for GJD3 Gene

Entrez Gene Summary for GJD3 Gene

  • This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJD3 Gene

GJD3 (Gap Junction Protein Delta 3) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. GO annotations related to this gene include ion channel activity and gap junction channel activity. An important paralog of this gene is GJA3.

UniProtKB/Swiss-Prot for GJD3 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 GJD3 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 GJD3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJD3 Gene

Genomics for GJD3 Gene

Regulatory Elements for GJD3 Gene

Enhancers for GJD3 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
GH17G040515 2 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -155.4 -155378 9.6 CREB3L1 MLX DMAP1 FEZF1 SLC30A9 ZNF143 SP3 NFYC TBX21 SSRP1 SNORD124 TOP2A CDC6 CCR7 IGFBP4 RPL23AP75 GJD3 RARA MSL1 SMARCE1
GH17G040455 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -95.9 -95921 9.4 FOXA2 ARNT MLX ZFP64 SIN3A ARID4B DMAP1 YY1 SLC30A9 ZNF207 CDC6 RPL23AP75 TNS4 GJD3 TOP2A SNORD124 KRT23 ENSG00000266208 IGFBP4 TMEM99
GH17G040302 1.4 Ensembl ENCODE dbSUPER 11.6 +60.7 60732 2.7 HDGF HDAC1 ATF1 FOXA2 NFIB SIN3A E2F7 NFXL1 RAD21 RFX5 GJD3 TOP2A ENSG00000266208 WIPF2 GC17P040303 RARA
GH17G040422 1.2 Ensembl ENCODE 11.8 -58.5 -58503 1.3 PKNOX1 FOXA2 ARID4B YBX1 FEZF1 GLIS2 FOS REST SSRP1 RFX3 GJD3 CCR7 RARA GC17M040417 GC17M040441
GH17G040426 0.6 ENCODE 11.8 -62.4 -62351 0.2 KLF1 BHLHE40 KLF17 PRDM1 GABPA EGR2 GJD3 CCR7 RARA GC17M040417 GC17M040441
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GJD3 on UCSC Golden Path with GeneCards custom track

Promoters for GJD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000094083 1493 1201 HDGF PKNOX1 FOXA2 MLX CREB3L1 ZFP64 ARID4B SIN3A DMAP1 SLC30A9

Genomic Location for GJD3 Gene

Chromosome:
17
Start:
40,360,652 bp from pter
End:
40,364,693 bp from pter
Size:
4,042 bases
Orientation:
Minus strand

Genomic View for GJD3 Gene

Genes around GJD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GJD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJD3 Gene

Proteins for GJD3 Gene

  • Protein details for GJD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N144-CXD3_HUMAN
    Recommended name:
    Gap junction delta-3 protein
    Protein Accession:
    Q8N144
    Secondary Accessions:
    • Q6ZUW6

    Protein attributes for GJD3 Gene

    Size:
    294 amino acids
    Molecular mass:
    31933 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins (By similarity). Interacts with TJP1.

    Alternative splice isoforms for GJD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GJD3 Gene

Post-translational modifications for GJD3 Gene

No Post-translational modifications

Other Protein References for GJD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJD3 Gene

Domains & Families for GJD3 Gene

Gene Families for GJD3 Gene

Protein Domains for GJD3 Gene

Suggested Antigen Peptide Sequences for GJD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N144

UniProtKB/Swiss-Prot:

CXD3_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 GJD3: view

Function for GJD3 Gene

Molecular function for GJD3 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 GJD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005243 gap junction channel activity IEA --
GO:0005515 protein binding IPI 12154091
GO:0086075 NOT gap junction channel activity involved in cardiac conduction electrical coupling NAS 19168070
genes like me logo Genes that share ontologies with GJD3: view
genes like me logo Genes that share phenotypes with GJD3: view

Animal Models for GJD3 Gene

MGI Knock Outs for GJD3:

Animal Model Products

miRNA for GJD3 Gene

miRTarBase miRNAs that target GJD3

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GJD3 Gene

Localization for GJD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJD3 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 GJD3 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GJD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 12154091
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IDA 12154091
GO:0009986 cell surface IDA 12154091
genes like me logo Genes that share ontologies with GJD3: view

Pathways & Interactions for GJD3 Gene

genes like me logo Genes that share pathways with GJD3: view

Interacting Proteins for GJD3 Gene

Selected Interacting proteins: Q8N144-CXD3_HUMAN for GJD3 Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for GJD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication TAS 12154091
GO:0009749 response to glucose IEA --
GO:0016264 gap junction assembly IDA 12154091
GO:0034220 ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with GJD3: view

No data available for SIGNOR curated interactions for GJD3 Gene

Drugs & Compounds for GJD3 Gene

(9) Drugs for GJD3 Gene - From: ApexBio, DGIdb, IUPHAR, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbenoxolone Experimental Pharma Inhibitor 0
Flufenamic Acid Experimental Pharma Channel blocker 0
Gap 27 Pharma Selective gap junction blocker 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0

(5) Tocris Compounds for GJD3 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

(1) ApexBio Compounds for GJD3 Gene

Compound Action Cas Number
Gap 27 Selective gap junction blocker 198284-64-9
genes like me logo Genes that share compounds with GJD3: view

Drug Products

Transcripts for GJD3 Gene

mRNA/cDNA for GJD3 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(58) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GJD3 Gene

Gap junction protein, delta 3, 31.9kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJD3 Gene

No ASD Table

Relevant External Links for GJD3 Gene

GeneLoc Exon Structure for
GJD3
ECgene alternative splicing isoforms for
GJD3

Expression for GJD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GJD3 Gene

mRNA expression in normal human tissues for GJD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of GJD3 Gene:

GJD3

SOURCE GeneReport for Unigene cluster for GJD3 Gene:

Hs.444663

mRNA Expression by UniProt/SwissProt for GJD3 Gene:

Q8N144-CXD3_HUMAN
Tissue specificity: Expressed in vascular smooth muscle cells. Found in heart, colon, and artery (at protein level). Found in cerebral cortex, heart, liver, lung, kidney, spleen and testis.

Evidence on tissue expression from TISSUES for GJD3 Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with GJD3: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GJD3 Gene

Orthologs for GJD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJD3 34 35
  • 99.2 (n)
cow
(Bos Taurus)
Mammalia GJD3 34
  • 88.13 (n)
dog
(Canis familiaris)
Mammalia GJD3 34
  • 87.17 (n)
rat
(Rattus norvegicus)
Mammalia Gjd3 34
  • 82.25 (n)
mouse
(Mus musculus)
Mammalia Gjd3 34 16 35
  • 81.65 (n)
oppossum
(Monodelphis domestica)
Mammalia GJD3 35
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJD3 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd3 34
  • 65.24 (n)
zebrafish
(Danio rerio)
Actinopterygii CU694757.1 35
  • 35 (a)
ManyToMany
Species where no ortholog for GJD3 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)
  • chicken (Gallus gallus)
  • 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 GJD3 Gene

ENSEMBL:
Gene Tree for GJD3 (if available)
TreeFam:
Gene Tree for GJD3 (if available)

Paralogs for GJD3 Gene

Paralogs for GJD3 Gene

(14) SIMAP similar genes for GJD3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GJD3: view

Variants for GJD3 Gene

Sequence variations from dbSNP and Humsavar for GJD3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000108930 -- 40,363,960(+) GCGAT(A/G)AGACC utr-variant-5-prime
rs1000177893 -- 40,362,693(+) TCCAG(A/G)ACCTG utr-variant-3-prime
rs1000923898 -- 40,360,768(+) CACAC(A/G)GTAGG utr-variant-3-prime
rs1002055758 -- 40,365,004(+) GAAGA(G/T)GGTCT upstream-variant-2KB
rs1002111781 -- 40,366,669(+) CCTCT(A/C)TGCCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GJD3 Gene

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
nsv833445 CNV loss 17160897

Variation tolerance for GJD3 Gene

Gene Damage Index Score: 1.39; 27.42% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJD3 Gene

Disorders for GJD3 Gene

Relevant External Links for GJD3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJD3

No disorders were found for GJD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GJD3 Gene

Publications for GJD3 Gene

  1. Virtual cloning, functional expression, and gating analysis of human connexin31.9. (PMID: 12176752) White T.W. … Bruzzone R. (Am. J. Physiol. 2002) 2 3 4 64
  2. Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1. (PMID: 12154091) Nielsen P.A. … Kumar N.M. (J. Biol. Chem. 2002) 3 4 22 64
  3. Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system. (PMID: 19168070) Kreuzberg M.M. … Willecke K. (J. Mol. Cell. Cardiol. 2009) 3 22 64
  4. Cx30.2 can form heteromeric gap junction channels with other cardiac connexins. (PMID: 18291099) Gemel J. … Beyer E.C. (Biochem. Biophys. Res. Commun. 2008) 3 64
  5. Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. (PMID: 17142249) Unsworth H.C. … Kelsell D.P. (Hum. Mol. Genet. 2007) 3 64

Products for GJD3 Gene

Sources for GJD3 Gene

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