GJC2
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Official Full Name
gap junction protein, gamma 2, 47kDa -
Overview
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. -
Synonyms
GJC2;gap junction protein, gamma 2, 47kDa;gap junction protein, alpha 12, 47kDa , GJA12;gap junction gamma-2 protein;connexin 47;CX46.6;CX47;SPG44;B230382L12Rik;Connexin 46.6;Connexin-46.6;Connexin-47;Connexin46.6;Connexin47;CX 46.6;Cx 47;CXG2_HUMAN;Gap junction alpha 12 protein;Gap junction alpha-12 protein;Gap junction gamma 2 protein;Gap junction protein alpha 12 47kDa;Gap junction protein gamma 2 47kDa;GAP JUNCTION PROTEIN, 47-KD;gap junction protein, gamma 12, 47kDa;GJA 12;GJA12;GJC 2;HLD 2;HLD2;MGC105119;MGC130506;OTTHUMP00000037763;PMLDAR;LMPH1C
Recombinant Proteins
- Rat
- Chicken
- Mouse
- Bovine
- Human
- Mammalian Cells
- HEK293
- E.coli
- His
- Avi
- Fc
Involved Pathway
GJC2 involved in several pathways and played different roles in them. We selected most pathways GJC2 participated on our site, such as Calcium Regulation in the Cardiac Cell, which may be useful for your reference. Also, other proteins which involved in the same pathway with GJC2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Calcium Regulation in the Cardiac Cell | CCDC102A,CX30.3,PKIG,CX27.5,KCNJ3,RGS14A,KCNB1,CX55.5,GNB3B,ADRB1 |
Protein Function
GJC2 has several biochemical functions, for example, gap junction channel activity. Some of the functions are cooperated with other proteins, some of the functions could acted by GJC2 itself. We selected most functions GJC2 had, and list some proteins which have the same functions with GJC2. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| gap junction channel activity | GJA8,GJA1,CX30.3,GJA10,CX43,CX23,GJB2,CX52.6,GJD3,GJC1 |
Interacting Protein
GJC2 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with GJC2 here. Most of them are supplied by our site. Hope this information will be useful for your research of GJC2.
Ybx3
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References
- Lyons, O; Sabine, A; et al. Failure of early organisation events underlies human venous valve failure caused by mutations in GJC2. BRITISH JOURNAL OF SURGERY 102:5-6(2015).
- Abrams, CK; Scherer, SS; et al. A new mutation in GJC2 associated with subclinical leukodystrophy. JOURNAL OF NEUROLOGY 261:1929-1938(2014).
