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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
  • GJA11 3 4
  • GJC1 3 4
  • Gap Junction Protein, Chi 1, 31.9kDa 2
  • Gap Junction Delta-3 Protein 3
  • Connexin 31.9 2
  • CX31.9 3
  • Cx30.2 3
  • Cx31.9 4

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. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for GJD3 Gene

Promoters and enhancers for GJD3 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
GH17J040362 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 650.7 +1.4 1415 2.1 HDGF MLX ZFP64 ARID4B SIN3A DMAP1 SLC30A9 ZNF207 ZNF143 SP3 GC17P040363 GJD3 ENSG00000266208 GSDMA
GH17J040364 Enhancer 0.6 ENCODE dbSUPER 650.7 -0.1 -111 0.1 KLF9 ZFP91 GC17P040363 GJD3 PPIAP54
GH17J040515 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -155.4 -155377 9.6 FOXA2 ARNT DMAP1 ZNF766 FOS SP5 REST SMARCB1 ZNF592 KAT8 TOP2A CDC6 CCR7 IGFBP4 RPL23AP75 GJD3 RARA SMARCE1 PPIAP54 TNS4
GH17J040455 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -95.9 -95921 9.4 ARNT SIN3A ZNF48 YY1 POLR2B ARID2 ZNF207 RXRA REST ZNF623 CDC6 LOC105371776 KRTAP9-2 RPL23AP75 TNS4 GJD3 TOP2A KRT23 ENSG00000266208 IGFBP4
GH17J040302 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.6 +60.7 60731 2.7 HDGF NFIB RAD21 RFX5 ARID2 SCRT2 ZNF143 RCOR1 BCLAF1 NFKBIZ GC17P040303 GJD3 TOP2A ENSG00000266208 WIPF2 RARA CDC6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJD3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GJD3 gene promoter:
  • FOXO1a
  • FOXO1
  • ISGF-3
  • deltaCREB
  • CREB
  • STAT1
  • STAT1alpha
  • STAT1beta
  • NF-1/L
  • ZIC2

Genomic Locations for GJD3 Gene

Genomic Locations for GJD3 Gene
chr17:40,360,652-40,364,693
(GRCh38/hg38)
Size:
4,042 bases
Orientation:
Minus strand
chr17:38,516,904-38,520,945
(GRCh37/hg19)
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

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.

Phenotypes From GWAS Catalog for GJD3 Gene

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:
  • Gjd3 Gjd3<tm1.2Kwi>
  • Gjd3 Gjd3<tm2.1Kwi>

Animal Model Products

CRISPR Products

miRNA for GJD3 Gene

miRTarBase miRNAs that target GJD3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJD3

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJD3 Gene

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 IID UniProtKB

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: 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, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
octanol Investigational Pharma Inhibitor 0
Gap 27 Pharma Selective gap junction blocker 0
Ca<sup>2+</sup> Pharma Activator, Full agonist, Agonist, Inhibitor, Antagonist, Channel blocker 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
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 GJD3: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJD3

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

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 33
  • 99.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GJD3 33
  • 88.13 (n)
dog
(Canis familiaris)
Mammalia GJD3 33
  • 87.17 (n)
rat
(Rattus norvegicus)
Mammalia Gjd3 33
  • 82.25 (n)
mouse
(Mus musculus)
Mammalia Gjd3 16 34 33
  • 81.65 (n)
oppossum
(Monodelphis domestica)
Mammalia GJD3 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJD3 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gjd3 33
  • 65.24 (n)
zebrafish
(Danio rerio)
Actinopterygii CU694757.1 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GJD3: view image

Paralogs for GJD3 Gene

Paralogs for GJD3 Gene

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

  • CXD3_HUMAN
  • J9PBQ4_HUMAN
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 Variation AA Info Type
rs1000108930 -- 40,363,960(-) G/A 5_prime_UTR_variant
rs1000177893 -- 40,362,693(-) G/A 3_prime_UTR_variant
rs1000923898 -- 40,360,768(-) A/G 3_prime_UTR_variant
rs1002055758 -- 40,365,004(-) T/G upstream_transcript_variant
rs1002111781 -- 40,366,669(-) A/C/T upstream_transcript_variant

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)

Additional Variant Information for GJD3 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for GJD3 Gene

Additional Disease Information for 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. 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 PA … Kumar NM (The Journal of biological chemistry 2002) 3 4 22 58
  2. Virtual cloning, functional expression, and gating analysis of human connexin31.9. (PMID: 12176752) White TW … Bruzzone R (American journal of physiology. Cell physiology 2002) 2 3 4 58
  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 MM … Willecke K (Journal of molecular and cellular cardiology 2009) 3 22 58
  4. Cx30.2 can form heteromeric gap junction channels with other cardiac connexins. (PMID: 18291099) Gemel J … Beyer EC (Biochemical and biophysical research communications 2008) 3 58
  5. Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth. (PMID: 17142249) Unsworth HC … Kelsell DP (Human molecular genetics 2007) 3 58

Products for GJD3 Gene

Sources for GJD3 Gene

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