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Aliases for GJC2 Gene

Aliases for GJC2 Gene

  • Gap Junction Protein Gamma 2 2 3 5
  • Gap Junction Protein, Gamma 2, 47kDa 2 3
  • Gap Junction Alpha-12 Protein 3 4
  • Connexin-46.6 3 4
  • Connexin-47 3 4
  • CX46.6 3 4
  • GJA12 3 4
  • Cx47 3 4
  • Gap Junction Protein, Alpha 12, 47kDa 2
  • Gap Junction Gamma-2 Protein 3
  • Connexin 47 2
  • LMPH1C 3
  • PMLDAR 3
  • SPG44 3
  • HLD2 3

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) is a Protein Coding gene. Diseases associated with GJC2 include Leukodystrophy, Hypomyelinating, 2 and Spastic Paraplegia 44, Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and Gap junction trafficking. GO annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC1.

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 (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 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

Enhancers for GJC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F228147 0.8 FANTOM5 Ensembl ENCODE 7.5 +0.6 638 5.0 PKNOX1 CREB3L1 KLF17 ARID4B RAD21 GLIS2 EGR2 ZNF263 SMARCA5 SP5 GJC2 C1orf145 OBSCN IBA57 ENSG00000269934 GC01P228162
GH01F228485 0.7 ENCODE 5.6 +337.8 337833 3.3 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CICP26 PRSS38 ENSG00000269890 LOC100421842 ENSG00000233920 DUSP5P1 HIST3H3 ENSG00000271399 RNF187 GJC2
GH01F228472 1 Ensembl ENCODE 5.3 +322.9 322888 1.2 CTCF JUN MAX ZNF384 RAD21 SMC3 NR2F6 ZNF263 NR2F1 REST OBSCN GJC2 HIST3H2BA RNF187
GH01F228478 1.1 Ensembl ENCODE 5.3 +329.6 329616 1.9 CTCF POLR2A PRDM10 CREM CBFB FOXA3 JUNB PRDM2 HHEX GABPA OBSCN GJC2 RNF187 HIST3H2BA
GH01F228445 1.5 FANTOM5 Ensembl ENCODE 4.5 +296.4 296374 1.1 USF1 BHLHE40 USF2 MAX BMI1 ZBTB7A ZBTB40 SREBF1 RAD51 ZBTB33 TRIM17 OBSCN TRIM11 ENSG00000231563 MIR6742 C1orf145 WNT3A GJC2 HIST3H2A RPL23AP15
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GJC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GJC2 Gene

Chromosome:
1
Start:
228,149,714 bp from pter
End:
228,159,826 bp from pter
Size:
10,113 bases
Orientation:
Plus strand

Genomic View for GJC2 Gene

Genes around GJC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GJC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q5T442-CXG2_HUMAN
    Recommended name:
    Gap junction gamma-2 protein
    Protein Accession:
    Q5T442
    Secondary Accessions:
    • O43440
    • Q7Z7J2
    • Q8IWJ9

    Protein attributes for GJC2 Gene

    Size:
    439 amino acids
    Molecular mass:
    47002 Da
    Quaternary structure:
    • A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity).
    SequenceCaution:
    • 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

Post-translational modifications for GJC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GJC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GJC2 Gene

Domains & Families for GJC2 Gene

Gene Families for GJC2 Gene

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

UniProtKB/Swiss-Prot:

CXG2_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 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

Human Phenotype Ontology for GJC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GJC2 Gene

MGI Knock Outs for GJC2:

Animal Model Products

miRNA for GJC2 Gene

miRTarBase miRNAs that target GJC2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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

COMPARTMENTS
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:0005886 plasma membrane IEA --
GO:0005921 gap junction IEA --
GO:0005922 connexin complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GJC2: view

Pathways & Interactions for GJC2 Gene

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

Pathways by source for GJC2 Gene

Gene Ontology (GO) - Biological Process for GJC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007154 cell communication IEA --
GO:0007267 cell-cell signaling IEA --
GO:0009636 response to toxic substance IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with GJC2: view

No data available for SIGNOR curated interactions for GJC2 Gene

Drugs & Compounds for GJC2 Gene

(9) Drugs for GJC2 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 0
Ca<sup>2+</sup> Pharma Activator 0
octanol Pharma Inhibitor 0
10Panx Pharma Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions 0

(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
Gap19 Cx43 hemichannel blocker 1507930-57-5
genes like me logo Genes that share compounds with GJC2: view

Transcripts for GJC2 Gene

mRNA/cDNA for GJC2 Gene

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

Unigene Clusters for GJC2 Gene

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

Inhibitory RNA 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
GJC2
ECgene alternative splicing isoforms for
GJC2

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) (x10.9) and Brain - Substantia nigra (x6.0).

Protein differential expression in normal tissues from HIPED for GJC2 Gene

This gene is overexpressed in Serum (61.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GJC2 Gene



Protein tissue co-expression partners for GJC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GJC2 Gene:

GJC2

SOURCE GeneReport for Unigene cluster for GJC2 Gene:

Hs.100072

mRNA Expression by UniProt/SwissProt for GJC2 Gene:

Q5T442-CXG2_HUMAN
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 expression patterns with GJC2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GJC2 34 35
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia GJC2 34 35
  • 81.68 (n)
dog
(Canis familiaris)
Mammalia GJC2 34
  • 81.4 (n)
mouse
(Mus musculus)
Mammalia Gjc2 34 16 35
  • 80.59 (n)
rat
(Rattus norvegicus)
Mammalia Gjc2 34
  • 79.83 (n)
oppossum
(Monodelphis domestica)
Mammalia GJC2 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves GJC2 35
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GJC2 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2895 34
zebrafish
(Danio rerio)
Actinopterygii cx47.1 35
  • 53 (a)
OneToOne
Species where no ortholog for GJC2 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)
  • 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

ENSEMBL:
Gene Tree for GJC2 (if available)
TreeFam:
Gene Tree for GJC2 (if available)

Paralogs for GJC2 Gene

Paralogs for GJC2 Gene

(6) 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
rs267606846 Pathogenic, Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480] 228,158,536(+) TGTCG(C/T)GCCCT reference, missense
rs267606847 Pathogenic, Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480] 228,157,901(+) CTACT(C/T)GGACG reference, missense
rs74315311 Pathogenic, Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] 228,158,615(+) TGAGA(C/T)GGCCC reference, missense
rs74315312 Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804], Pathogenic 228,158,026(+) CCACG(C/T)CCTCG reference, missense
rs74315314 Pathogenic, Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] 228,158,572(+) TTATG(G/T)ACGTG reference, missense

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

Variant ID Type Subtype PubMed ID
dgv105n67 CNV gain 20364138
dgv839n54 CNV loss 21841781
esv32853 CNV gain 17666407
nsv1160102 CNV deletion 26073780
nsv473804 CNV novel sequence insertion 20440878
nsv523935 CNV loss 19592680
nsv549290 CNV loss 21841781
nsv549291 CNV loss 21841781
nsv826908 CNV gain 20364138
nsv827019 CNV loss 20364138
nsv827031 CNV gain 20364138
nsv952137 CNV deletion 24416366

Variation tolerance for GJC2 Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GJC2 Gene

Human Gene Mutation Database (HGMD)
GJC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GJC2

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

Disorders for GJC2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for GJC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 2
  • hypomyelinating leukodystrophy 2
spastic paraplegia 44, autosomal recessive
  • spg44
lymphedema, hereditary, ic
  • lymphedema, hereditary ic
spastic paraplegia 44
  • autosomal recessive spastic paraplegia 44
gjc2-related disorders
- elite association - COSMIC cancer census association via MalaCards
Search GJC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CXG2_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for GJC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GJC2
genes like me logo Genes that share disorders with GJC2: view

No data available for Genatlas 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 22 64
  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 22 64
  3. Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease. (PMID: 19423250) Wang J. … Jiang Y. (Brain Dev. 2010) 3 22 64
  4. GJC2 missense mutations cause human lymphedema. (PMID: 20537300) Ferrell R.E. … Finegold D.N. (Am. J. Hum. Genet. 2010) 3 4 64
  5. 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 22 64

Products for GJC2 Gene

Sources for GJC2 Gene

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