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

Aliases for GJC2 Gene

Aliases for GJC2 Gene

  • Gap Junction Protein, Gamma 2, 47kDa 2 3
  • GJA12 3 4 6
  • Cx47 3 4 6
  • Gap Junction Alpha-12 Protein 3 4
  • Connexin-46.6 3 4
  • Connexin-47 3 4
  • CX46.6 3 4
  • LMPH1C 3 6
  • PMLDAR 3 6
  • SPG44 3 6
  • HLD2 3 6
  • Gap Junction Protein, Alpha 12, 47kDa 2
  • Gap Junction Gamma-2 Protein 3
  • Connexin 47 2

External Ids for GJC2 Gene

Previous HGNC Symbols for GJC2 Gene

  • GJA12

Previous GeneCards Identifiers for GJC2 Gene

  • GC01P226405
  • GC01P228337
  • GC01P198852

Summaries for GJC2 Gene

Entrez Gene Summary for GJC2 Gene

  • This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]

GeneCards Summary for GJC2 Gene

GJC2 (Gap Junction Protein, Gamma 2, 47kDa) is a Protein Coding gene. Diseases associated with GJC2 include leukodystrophy, hypomyelinating, 2 and spastic paraplegia 44, autosomal recessive. Among its related pathways are Clathrin derived vesicle budding and Myometrial Relaxation and Contraction Pathways. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJB3.

UniProtKB/Swiss-Prot for GJC2 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. May play a role in myelination in central and peripheral nervous systems.

Tocris Summary for GJC2 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 GJC2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GJC2 Gene

Genomics for GJC2 Gene

Regulatory Elements for GJC2 Gene

Genomic Location for GJC2 Gene

228,149,714 bp from pter
228,159,826 bp from pter
10,113 bases
Plus strand

Genomic View for GJC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GJC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GJC2 Gene

Proteins for GJC2 Gene

  • Protein details for GJC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Gap junction gamma-2 protein
    Protein Accession:
    Secondary Accessions:
    • O43440
    • Q7Z7J2
    • Q8IWJ9

    Protein attributes for GJC2 Gene

    439 amino acids
    Molecular mass:
    47002 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity).
    • Sequence=AAB94511.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH35840.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for GJC2 Gene

Proteomics data for GJC2 Gene at MOPED

Post-translational modifications for GJC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJC2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GJC2 Gene

Domains for GJC2 Gene

Gene Families for GJC2 Gene

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

Protein Domains for GJC2 Gene

Suggested Antigen Peptide Sequences for GJC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q5T442
  • Belongs to the connexin family. Gamma-type subfamily.
genes like me logo Genes that share domains with GJC2: view

Function for GJC2 Gene

Molecular function for GJC2 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. May play a role in myelination in central and peripheral nervous systems.

Gene Ontology (GO) - Molecular Function for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005243 gap junction channel activity IEA --
genes like me logo Genes that share ontologies with GJC2: view
genes like me logo Genes that share phenotypes with GJC2: view

Animal Models for GJC2 Gene

MGI Knock Outs for GJC2:

miRNA for GJC2 Gene

miRTarBase miRNAs that target GJC2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJC2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for GJC2 Gene

Localization for GJC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GJC2 Gene

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

Subcellular locations from

Jensen Localization Image for GJC2 Gene COMPARTMENTS Subcellular localization image for GJC2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005921 gap junction --
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 GJC2: view

Pathways for GJC2 Gene

genes like me logo Genes that share pathways with GJC2: view

Pathways by source for GJC2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling IEA --
GO:0008219 cell death --
GO:0009636 response to toxic substance IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with GJC2: view

Compounds for GJC2 Gene

(5) Tocris Compounds for GJC2 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]

(4) IUPHAR Ligand for GJC2 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 GJC2: view

Transcripts for GJC2 Gene

mRNA/cDNA for GJC2 Gene

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

Unigene Clusters for GJC2 Gene

Gap junction protein, gamma 2, 47kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GJC2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GJC2 Gene

No ASD Table

Relevant External Links for GJC2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GJC2 Gene

mRNA expression in normal human tissues for GJC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GJC2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (10.9) and Brain - Substantia nigra (6.0).

Protein differential expression in normal tissues for GJC2 Gene

This gene is overexpressed in Serum (61.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GJC2 Gene

SOURCE GeneReport for Unigene cluster for GJC2 Gene Hs.100072

mRNA Expression by UniProt/SwissProt for GJC2 Gene

Tissue specificity: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles.
genes like me logo Genes that share expressions with GJC2: view

Expression partners for GJC2 Gene

In Situ Assay Products

Orthologs for GJC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GJC2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia GJC2 35
  • 81.68 (n)
  • 82.78 (a)
GJC2 36
  • 85 (a)
(Canis familiaris)
Mammalia GJC2 35
  • 81.4 (n)
  • 78.91 (a)
(Mus musculus)
Mammalia Gjc2 35
  • 80.59 (n)
  • 83.33 (a)
Gjc2 16
Gjc2 36
  • 84 (a)
(Pan troglodytes)
Mammalia GJC2 35
  • 99.54 (n)
  • 99.54 (a)
GJC2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Gjc2 35
  • 79.83 (n)
  • 84.25 (a)
(Monodelphis domestica)
Mammalia GJC2 36
  • 65 (a)
(Gallus gallus)
Aves GJC2 36
  • 57 (a)
(Anolis carolinensis)
Reptilia GJC2 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2895 35
(Danio rerio)
Actinopterygii cx47.1 36
  • 53 (a)
Species with no ortholog for GJC2:
  • 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)
  • 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 GJC2 Gene

Gene Tree for GJC2 (if available)
Gene Tree for GJC2 (if available)

Paralogs for GJC2 Gene

Paralogs for GJC2 Gene

Selected SIMAP similar genes for GJC2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with GJC2: view

Variants for GJC2 Gene

Sequence variations from dbSNP and Humsavar for GJC2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1052534 -- 228,159,173(-) GGCCA(C/T)CGGCT utr-variant-3-prime
rs4653535 -- 228,154,313(+) tgtag(C/G)atgcc intron-variant
rs4653909 -- 228,153,478(+) ccctc(C/T)ggggt intron-variant
rs4653910 -- 228,158,724(+) CCTGC(C/G)GCGGC synonymous-codon, reference
rs6663726 -- 228,156,299(+) GCATG(C/T)CTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GJC2 Gene

Variant ID Type Subtype PubMed ID
esv32853 CNV Gain 17666407
nsv826908 CNV Gain 20364138
nsv523935 CNV Loss 19592680
nsv873252 CNV Loss 21882294
dgv537n71 CNV Loss 21882294
nsv873255 CNV Loss 21882294
nsv827019 CNV Loss 20364138
nsv873256 CNV Loss 21882294
nsv873257 CNV Loss 21882294
dgv538n71 CNV Loss 21882294
dgv539n71 CNV Loss 21882294
nsv827031 CNV Gain 20364138
dgv105n67 CNV Gain 20364138

Relevant External Links for GJC2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GJC2 Gene

Disorders for GJC2 Gene

(3) OMIM Diseases for GJC2 Gene (608803)


  • Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]: An autosomal recessive hypomyelinating leukodystrophy with symptoms of Pelizaeus-Merzbacher disease. Clinically characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity. {ECO:0000269 PubMed:15192806}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:19056803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]: A chronic disabling condition which results in swelling of the extremities due to altered lymphatic flow. Patients with lymphedema suffer from recurrent local infections and physical impairment. {ECO:0000269 PubMed:20537300}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for GJC2 Gene

(2) Novoseek inferred disease relationships for GJC2 Gene

Disease -log(P) Hits PubMed IDs
pelizaeus-merzbacher-like disease 99.5 10
pelizaeus-merzbacher disease 92.5 1
genes like me logo Genes that share disorders with GJC2: view

No data available for Genatlas and External Links for GJC2 Gene

Publications for GJC2 Gene

  1. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. (PMID: 19056803) Orthmann-Murphy J.L. … Pareyson D. (Brain 2009) 2 3 4 23
  2. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. (PMID: 15192806) Uhlenberg B. … Gaertner J. (Am. J. Hum. Genet. 2004) 3 4 23
  3. A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease. (PMID: 17031678) Salviati L. … Laverda A. (Neurogenetics 2007) 3 23
  4. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. (PMID: 18521858) Ruf N. … Uhlenberg B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23
  5. Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease. (PMID: 17344063) Orthmann-Murphy J.L. … Scherer S.S. (Mol. Cell. Neurosci. 2007) 3 23

Products for GJC2 Gene

Sources for GJC2 Gene

Back to Top