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Aliases for GJC3 Gene

Aliases for GJC3 Gene

  • Gap Junction Protein, Gamma 3, 30.2kDa 2 3
  • Gap Junction Epsilon-1 Protein 3 4
  • Connexin-30.2 3 4
  • Connexin-31.3 3 4
  • CX30.2 3 4
  • CX31.3 3 4
  • GJE1 3 4
  • Gap Junction Protein, Epsilon 1, 29kDa 2
  • Connexin 30.2 2
  • Connexin 29 3
  • CX29 3

External Ids for GJC3 Gene

Previous HGNC Symbols for GJC3 Gene

  • GJE1

Previous GeneCards Identifiers for GJC3 Gene

  • GC07M099360
  • GC07M099520
  • GC07M094156

Summaries for GJC3 Gene

Entrez Gene Summary for GJC3 Gene

  • This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.[provided by RefSeq, Feb 2010]

GeneCards Summary for GJC3 Gene

GJC3 (Gap Junction Protein, Gamma 3, 30.2kDa) is a Protein Coding gene. Diseases associated with GJC3 include erythrokeratodermia variabilis et progressiva. Among its related pathways are Signaling in Gap Junctions. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJD4.

UniProtKB/Swiss-Prot for GJC3 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 GJC3 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 GJC3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJC3 Gene

Genomics for GJC3 Gene

Regulatory Elements for GJC3 Gene

Genomic Location for GJC3 Gene

Chromosome:
7
Start:
99,923,269 bp from pter
End:
99,935,091 bp from pter
Size:
11,823 bases
Orientation:
Minus strand

Genomic View for GJC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJC3 Gene

Proteins for GJC3 Gene

  • Protein details for GJC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NFK1-CXG3_HUMAN
    Recommended name:
    Gap junction gamma-3 protein
    Protein Accession:
    Q8NFK1
    Secondary Accessions:
    • A4D296
    • Q86XI9

    Protein attributes for GJC3 Gene

    Size:
    279 amino acids
    Molecular mass:
    31299 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins.

neXtProt entry for GJC3 Gene

Proteomics data for GJC3 Gene at MOPED

Post-translational modifications for GJC3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJC3 Gene

Domains & Families for GJC3 Gene

Gene Families for GJC3 Gene

Protein Domains for GJC3 Gene

Suggested Antigen Peptide Sequences for GJC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8NFK1

UniProtKB/Swiss-Prot:

CXG3_HUMAN :
  • Belongs to the connexin family. Gamma-type subfamily.
Family:
  • Belongs to the connexin family. Gamma-type subfamily.
genes like me logo Genes that share domains with GJC3: view

Function for GJC3 Gene

Molecular function for GJC3 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 GJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with GJC3: view
genes like me logo Genes that share phenotypes with GJC3: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJC3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GJC3 Gene

Localization for GJC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJC3 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GJC3 Gene COMPARTMENTS Subcellular localization image for GJC3 gene
Compartment Confidence
plasma membrane 2

Gene Ontology (GO) - Cellular Components for GJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005922 connexon complex IEA --
GO:0016021 integral component of membrane IEA --
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with GJC3: view

Pathways & Interactions for GJC3 Gene

SuperPathways for GJC3 Gene

Superpath Contained pathways
1 Signaling in Gap Junctions
genes like me logo Genes that share pathways with GJC3: view

Pathways by source for GJC3 Gene

1 Qiagen pathway for GJC3 Gene

Interacting Proteins for GJC3 Gene

Gene Ontology (GO) - Biological Process for GJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007605 sensory perception of sound IEA --
GO:0042552 myelination IEA --
genes like me logo Genes that share ontologies with GJC3: view

No data available for SIGNOR curated interactions for GJC3 Gene

Drugs & Compounds for GJC3 Gene

(9) Drugs for GJC3 Gene - From: IUPHAR, DGIdb, Tocris, and ApexBio

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 Antagonist 0
octanol Pharma Inhibitor 0
genes like me logo Genes that share compounds with GJC3: view

Transcripts for GJC3 Gene

mRNA/cDNA for GJC3 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GJC3 Gene

Gap junction protein, gamma 3, 30.2kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJC3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJC3 Gene

No ASD Table

Relevant External Links for GJC3 Gene

GeneLoc Exon Structure for
GJC3
ECgene alternative splicing isoforms for
GJC3

Expression for GJC3 Gene

mRNA expression in normal human tissues for GJC3 Gene

mRNA differential expression in normal tissues according to GTEx for GJC3 Gene

This gene is overexpressed in Nerve - Tibial (x11.9), Pancreas (x6.7), Breast - Mammary Tissue (x6.0), and Minor Salivary Gland (x5.4).

Protein differential expression in normal tissues from HIPED for GJC3 Gene

This gene is overexpressed in Spinal cord (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJC3 Gene



SOURCE GeneReport for Unigene cluster for GJC3 Gene Hs.647524

mRNA Expression by UniProt/SwissProt for GJC3 Gene

Q8NFK1-CXG3_HUMAN
Tissue specificity: CNS specific. Expression is restricted to brain, spinal cord, and sciatic nerve. According to PubMed:12881038, expression is abundant in skeletal muscle, liver, and heart, and to a minor degree in pancreas and kidney.
genes like me logo Genes that share expression patterns with GJC3: view

Protein tissue co-expression partners for GJC3 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

Orthologs for GJC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GJC3 35
  • 81.21 (n)
  • 76.45 (a)
GJC3 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GJC3 35
  • 85.4 (n)
  • 81.4 (a)
GJC3 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gjc3 35
  • 74.84 (n)
  • 66.15 (a)
Gjc3 16
Gjc3 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GJC3 35
  • 99.52 (n)
  • 99.28 (a)
GJC3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gjc3 35
  • 73.93 (n)
  • 66.54 (a)
lizard
(Anolis carolinensis)
Reptilia GJC3 36
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 13 (a)
OneToMany
-- 36
  • 12 (a)
OneToMany
-- 36
  • 6 (a)
OneToMany
Species with no ortholog for GJC3:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for GJC3 Gene

ENSEMBL:
Gene Tree for GJC3 (if available)
TreeFam:
Gene Tree for GJC3 (if available)

Paralogs for GJC3 Gene

Paralogs for GJC3 Gene

(9) SIMAP similar genes for GJC3 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for GJC3 Gene

genes like me logo Genes that share paralogs with GJC3: view

Variants for GJC3 Gene

Sequence variations from dbSNP and Humsavar for GJC3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs1121592 -- 99,926,008(-) CTTGC(A/G)TAAAT intron-variant
rs2525549 -- 99,935,488(+) ATTCA(C/T)GAGAA upstream-variant-2KB
rs2525550 -- 99,935,555(+) CCACC(C/T)AAAAT upstream-variant-2KB
rs2527897 -- 99,936,457(-) TGATA(C/T)GGCCG upstream-variant-2KB
rs2527898 -- 99,936,407(-) GCTGA(C/G)GCGGG upstream-variant-2KB

Variation tolerance for GJC3 Gene

Residual Variation Intolerance Score: 69.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJC3 Gene

HapMap Linkage Disequilibrium report
GJC3
Human Gene Mutation Database (HGMD)
GJC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for GJC3 Gene

Disorders for GJC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GJC3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
erythrokeratodermia variabilis et progressiva
  • erythrokeratodermia variabilis with erythema gyratum repens
- elite association
Search GJC3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GJC3

Genetic Association Database (GAD)
GJC3
Human Genome Epidemiology (HuGE) Navigator
GJC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJC3
genes like me logo Genes that share disorders with GJC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GJC3 Gene

Publications for GJC3 Gene

  1. A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. (PMID: 19876648) Hong H.M. … Li S.Y. (Hum. Genet. 2010) 23 67
  2. Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method. (PMID: 19657183) Wang W.H. … Li S.Y. (Audiol. Neurootol. 2010) 23 67
  3. Mouse lens connexin23 (Gje1) does not form functional gap junction channels but causes enhanced ATP release from HeLa cells. (PMID: 18849090) Sonntag S. … Willecke K. (Eur. J. Cell Biol. 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. Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct. (PMID: 17972320) Ahn M. … Scherer S.S. (J. Neurosci. Res. 2008) 23 67

Products for GJC3 Gene

Sources for GJC3 Gene

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