Description: Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA. RefSeq Summary (NM_020435): 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]. Transcript (Including UTRs) Position: hg19 chr1:228,337,415-228,347,527 Size: 10,113 Total Exon Count: 2 Strand: + Coding Region Position: hg19 chr1:228,345,460-228,346,779 Size: 1,320 Coding Exon Count: 1
ID:CXG2_HUMAN DESCRIPTION: RecName: Full=Gap junction gamma-2 protein; AltName: Full=Connexin-46.6; Short=Cx46.6; AltName: Full=Connexin-47; Short=Cx47; AltName: Full=Gap junction alpha-12 protein; 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. SUBUNIT: A connexon is composed of a hexamer of connexins. Interacts with TJP1 (By similarity). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, gap junction. TISSUE SPECIFICITY: Expressed in central nervous system, in sciatic nerve and sural nerve. Also detected in skeletal muscles. DISEASE: Defects in GJC2 are the cause of leukodystrophy hypomyelinating type 2 (HLD2) [MIM:608804]; also known as Pelizaeus-Merzbacher-like disease autosomal recessive type 1. HLD2 is an autosomal recessive hypomyelinating leukodystrophy characterized by nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria and progressive spasticity. DISEASE: Defects in GJC2 are the cause of spastic paraplegia autosomal recessive type 44 (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. DISEASE: Defects in GJC2 are the cause of lymphedema hereditary type 1C (LMPH1C) [MIM:613480]. LMPH1C is 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. SIMILARITY: Belongs to the connexin family. Gamma-type subfamily. CAUTION: It is uncertain whether Met-1 or Met-4 is the initiator. SEQUENCE CAUTION: Sequence=AAB94511.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH35840.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GJC2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q5T442
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005243 gap junction channel activity GO:1903763 gap junction channel activity involved in cell communication by electrical coupling
Biological Process: GO:0001932 regulation of protein phosphorylation GO:0007154 cell communication GO:0007267 cell-cell signaling GO:0007420 brain development GO:0009636 response to toxic substance GO:0010628 positive regulation of gene expression GO:0010644 cell communication by electrical coupling GO:0055085 transmembrane transport GO:0070447 positive regulation of oligodendrocyte progenitor proliferation GO:1904427 positive regulation of calcium ion transmembrane transport GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
