Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GJC3 Gene

Aliases for GJC3 Gene

  • Gap Junction Protein, Gamma 3, 30.2kDa 2 3
  • CX30.2 3 4 6
  • CX31.3 3 4 6
  • Gap Junction Epsilon-1 Protein 3 4
  • Connexin-30.2 3 4
  • Connexin-31.3 3 4
  • GJE1 3 4
  • Gap Junction Protein, Epsilon 1, 29kDa 2
  • Gap Junction Gamma-3 Protein 3
  • Connexin 30.2 2
  • Connexin 29 3
  • CX29 3

External Ids for GJC3 Gene

Previous Symbols for GJC3 Gene

  • GJE1

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 peripheral neuropathy. 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 (also known as gap junctions) are specalized cell-cell contacts between almost all eukaryotic cells that provide direct intracellular communication. Generally, gap channels allow the passive diffusion of molecules up to 1 kDa which includes nutrients, small metabolites (e.g. glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP and cGMP). Gap channels allow electrical and biochemical coupling between cells and in excitable tissues, such as neurons and the heart, enables the generation of synchronized and rapid responses. Structurally, gap channels are composed of two hemichannels called connexons, which themselves are formed from six connexin molecules. Homo- and heteromeric combinations are seen, which exhibit distinct permeability, selectivity and functional properties. Pannexins are related to connexins and can also form gap junctions. However, their expression is limited to the brain. Furthermore, in nonchordate animals a family of proteins called innexins form these channels. Gap channels are regulated through post-translational modifications of the C-terminal cytoplasmic tail and phosphorylation modulates assembly and their physiological properties. They are continuously synthesized and degraded, allowing tissues to rapidly adapt to changing environmental conditions. Connexins play a key role in many physiological processes including cardiac and smooth muscle contraction, regulation of neuronal excitability, epithelial electrolyte transport and keratinocyte differentiation. Mutations in connexin genes are associated with human diseases including sensorineural deafness, a variety of skin disorders, peripheral neuropathy and cardiovascular disease.

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

Genomic Location for GJC3 Gene

Start:
99,923,269 bp from pter
End:
99,934,210 bp from pter
Size:
10,942 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

Regulatory Elements 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 for GJC3 Gene

Gene Families for GJC3 Gene

HGNC:
  • GJ :Ion channels / Gap junction proteins (connexins)
IUPHAR :

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
Family:
  • Belongs to the connexin family. Gamma-type subfamily.:
    • Q8NFK1
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 for GJC3 Gene

miRTarBase miRNAs that target GJC3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 5
cytosol 1

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 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

Compounds for GJC3 Gene

(4) Tocris Compounds for GJC3 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 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]

(4) IUPHAR Ligand for GJC3 Gene

Ligand Type Action Affinity Pubmed IDs
flufenamic acid Channel blocker None
octanol Inhibitor None
Ca2+ Antagonist Antagonist
carbenoxolone Inhibitor None
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:

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Nerve - Tibial (11.9), Pancreas (6.7), Breast - Mammary Tissue (6.0), and Minor Salivary Gland (5.4).

Integrated Proteomics: protein expression 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 expressions with GJC3: view

Orthologs for GJC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GJC3 35
  • 99.52 (n)
  • 99.28 (a)
GJC3 36
  • 99 (a)
OneToOne
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
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

Selected 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
rs2527899 -- 99,931,558(-) TCACA(C/T)TGAGT upstream-variant-2KB, intron-variant
rs2527900 -- 99,927,618(-) TCTTT(C/T)CTTAG intron-variant

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

(1) MalaCards Diseases for GJC3 Gene

Search for GJC3 Gene in MalaCards »

(2) University of Copenhagen DISEASES for GJC3 Gene

Relevant External Links for GJC3

Genetic Association Database (GAD)
GJC3
Human Genome Epidemiology (HuGE) Navigator
GJC3
genes like me logo Genes that share disorders with GJC3: view

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

Publications for GJC3 Gene

  1. Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. (PMID: 12151525) Altevogt B.M. … Paul D.L. (J. Neurosci. 2002) 3 4 23
  2. Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes. (PMID: 15293232) Kleopa K.A. … Scherer S.S. (Glia 2004) 3 23
  3. Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants. (PMID: 18353664) Sargiannidou I. … Kleopa K.A. (Neurobiol. Dis. 2008) 3 23
  4. 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) 3 23
  5. 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) 3 23

Products for GJC3 Gene

Sources for GJC3 Gene

Back to Top

Content