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] See more...

Aliases for GJC3 Gene

Aliases for GJC3 Gene

  • Gap Junction Protein Gamma 3 2 3 5
  • Gap Junction Protein, Gamma 3, 30.2kDa 2 3
  • Gap Junction Epsilon-1 Protein 3 4
  • Gap Junction Gamma-3 Protein 3 4
  • Connexin-30.2 3 4
  • Connexin-31.3 3 4
  • GJE1 3 4
  • Gap Junction Protein, Epsilon 1, 29kDa 2
  • Connexin 30.2 2
  • Connexin 29 3
  • CX30.2 3
  • CX31.3 3
  • Cx30.2 4
  • Cx31.3 4
  • 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) is a Protein Coding gene. Diseases associated with GJC3 include Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 and Charcot-Marie-Tooth Disease Type X. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is GJC2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for GJC3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GJC3 Gene

Genomics for GJC3 Gene

GeneHancer (GH) Regulatory Elements for GJC3 Gene

Promoters and enhancers for GJC3 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
GH07J099929 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +5.4 5388 1 ZNF217 CTCF POLR2G USF1 ZIC2 ZBTB10 ZBTB11 REST TOE1 MYC ENSG00000237640 GJC3 LAMTOR4 MAP11 GAL3ST4 GPC2 RF00017-6474
GH07J099975 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 500.3 -41.0 -40963 1.3 FOXK2 POLR2G NCOR1 KDM6A TGIF2 SKI TEAD1 ZBTB26 ZKSCAN8 FOXA2 AZGP1 ENSG00000286921 GJC3 TRIM4 MBLAC1 TAF6 RF00017-6474
GH07J099935 Promoter/Enhancer 1 EPDnew Ensembl 500.7 0.0 -10 0.6 MYC NFIC CREB3L1 MAX ZNF592 MNT EP400 ZNF384 SP1 SMARCA4 ENSG00000199711 GJC3 TRIM4 ENSG00000237640 RF00017-6474
GH07J099934 Promoter 0.3 EPDnew 500.7 +0.8 785 0.1 GJC3 LAMTOR4 MAP11 GAL3ST4 GPC2 ENSG00000237640 RF00017-6474
GH07J099990 Promoter/Enhancer 1.4 ENCODE CraniofacialAtlas dbSUPER 11.7 -55.7 -55748 0.9 ZNF217 CTCF TEAD4 AFF1 REST MYC RAD21 CTBP1 TRIM22 TEAD1 ENSG00000235713 LOC100128334 lnc-ZKSCAN1-2 TRIM4 ZSCAN21 GJC3 ENSG00000237640 ZSCAN25 RF00017-6474
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GJC3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GJC3

Top Transcription factor binding sites by QIAGEN in the GJC3 gene promoter:
  • CP2
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • Max1
  • Pax-4a
  • Spz1
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for GJC3 Gene

Genomic Locations for GJC3 Gene
chr7:99,923,266-99,935,091
(GRCh38/hg38)
Size:
11,826 bases
Orientation:
Minus strand
chr7:99,520,892-99,527,243
(GRCh37/hg19)
Size:
6,352 bases
Orientation:
Minus strand

Genomic View for GJC3 Gene

Genes around GJC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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

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

Protein Domains for GJC3 Gene

Blocks:
  • Connexin, N terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GJC3 Gene

GenScript: Design optimal peptide antigens:
  • Gap junction epsilon-1 protein (CXG3_HUMAN)

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.

Phenotypes From GWAS Catalog for GJC3 Gene

Gene Ontology (GO) - Molecular Function for GJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IEA --
GO:0086077 NOT gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling NAS 21742272
genes like me logo Genes that share ontologies with GJC3: view
genes like me logo Genes that share phenotypes with GJC3: view

Animal Models for GJC3 Gene

MGI Knock Outs for GJC3:
  • Gjc3 Gjc3<tm1.1Kwi>
  • Gjc3 Gjc3<tm1Paul>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJC3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
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 GJC3 gene
Compartment Confidence
plasma membrane 4
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GJC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GJC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GJC3 Gene

Pathways & Interactions for GJC3 Gene

PathCards logo

SuperPathways for GJC3 Gene

No Data Available

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 --
GO:0086053 NOT AV node cell to bundle of His cell communication by electrical coupling NAS,IEA 21742272
genes like me logo Genes that share ontologies with GJC3: view

No data available for Pathways by source and SIGNOR curated interactions for GJC3 Gene

Drugs & Compounds for GJC3 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flufenamic acid Approved Pharma Channel blocker, Inhibitor, Pore Blocker, Antagonist Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 1
Carbenoxolone Experimental Pharma Inhibitor 0
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 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 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

(1) ApexBio Compounds for GJC3 Gene

Compound Action Cas Number
Gap 27 Selective gap junction blocker 198284-64-9
genes like me logo Genes that share compounds with GJC3: view

Drug Products

Transcripts for GJC3 Gene

mRNA/cDNA for GJC3 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GJC3

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

No ASD Table

Relevant External Links for GJC3 Gene

GeneLoc Exon Structure for
GJC3

Expression for GJC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for GJC3 Gene



Protein tissue co-expression partners for GJC3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GJC3

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.

Evidence on tissue expression from TISSUES for GJC3 Gene

  • Nervous system(4.4)
  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with GJC3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GJC3 Gene

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 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GJC3 31 30
  • 85.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GJC3 31 30
  • 81.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gjc3 17 31 30
  • 74.84 (n)
rat
(Rattus norvegicus)
Mammalia Gjc3 30
  • 73.93 (n)
lizard
(Anolis carolinensis)
Reptilia GJC3 31
  • 39 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 13 (a)
OneToMany
-- 31
  • 12 (a)
OneToMany
-- 31
  • 6 (a)
OneToMany
Species where no ortholog for GJC3 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GJC3: view image

Paralogs for GJC3 Gene

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

  • CXG3_HUMAN

Pseudogenes.org Pseudogenes for GJC3 Gene

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

Variants for GJC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GJC3 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
35515 Uncertain Significance: Variant of unknown significance 99,923,578(-) T/A MISSENSE_VARIANT
732650 Benign: not provided 99,929,228(-) G/A SYNONYMOUS_VARIANT
778326 Benign: not provided 99,929,131(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GJC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for GJC3 Gene

Variant ID Type Subtype PubMed ID
esv3614286 OTHER inversion 21293372
nsv607930 CNV loss 21841781

Variation tolerance for GJC3 Gene

Residual Variation Intolerance Score: 69.6% 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)

Additional Variant Information for GJC3 Gene

Human Gene Mutation Database (HGMD)
GJC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJC3 Gene

Disorders for GJC3 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search GJC3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GJC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems. (PMID: 12151525) Altevogt BM … Paul DL (The Journal of neuroscience : the official journal of the Society for Neuroscience 2002) 3 4 23 54
  2. Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation. (PMID: 20593197) Yang JJ … Li SY (Human genetics 2010) 3 41 54
  3. Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. (PMID: 20632892) Ramchander PV … Panda AK (Genetic testing and molecular biomarkers 2010) 3 41 54
  4. A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. (PMID: 19876648) Hong HM … Li SY (Human genetics 2010) 3 23 54
  5. 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 WH … Li SY (Audiology & neuro-otology 2010) 3 23 54

Products for GJC3 Gene

Sources for GJC3 Gene