GJB2
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Official Full Name
gap junction protein, beta 2, 26kDa -
Overview
This gene encodes a member of the gap junction protein family. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. According to sequence similarities at the nucleotide and amino acid levels, the gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness. -
Synonyms
GJB2;gap junction protein, beta 2, 26kDa;DFNA3, DFNB1, gap junction protein, beta 2, 26kD (connexin 26) , gap junction protein, beta 2, 26kDa (connexin 26);gap junction beta-2 protein;connexin 26;CX26;NSRD1;HID;KID;PPK;DFNA3;DFNB1;DFNA3A;DF
Recombinant Proteins
- Human
- Rhesus macaque
- Rat
- Chicken
- Mouse
- Sheep
- Hylobates lar (Common gibbon) (White-handed gibbon)
- Bovine
- Pongo Pygmaeus
- Gorilla gorilla gorilla (Western lowland gorilla)
- Macaca mulatta
- E.coli
- Mammalian Cell
- HEK293
- Wheat Germ
- In Vitro Cell Free System
- E.coli expression system
- His
- Non
- His&Fc&Avi
- GST
Involved Pathway
GJB2 involved in several pathways and played different roles in them. We selected most pathways GJB2 participated on our site, such as Calcium Regulation in the Cardiac Cell,Gap junction assembly,Gap junction trafficking, which may be useful for your reference. Also, other proteins which involved in the same pathway with GJB2 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Gap junction trafficking and regulation | CX30.3,GJB5,GJC1,GJA4,GJB3,GJD3,GJB4,GJA8,CX27.5,MYO6 |
| Oligomerization of connexins into connexons | CX27.5 |
| Membrane Trafficking | BLOC1S6,TRAPPC6B,BLOC1S3,EXOC3,PPP6R3,FTH1A,SEC23IP,ARCN1B,TMED2,EXOC5 |
| Gap junction assembly | GJC1,GJA5,GJA4,GJB7,CX30.3,CX27.5,GJA8,GJB4,GJD3,GJB5 |
| Transport of connexons to the plasma membrane | CX30.3 |
| Gap junction trafficking | GJC1,MYO6A,MYO6B,CX30.3,GJB7,DAB2,GJB5,GJB3,MYO6,CX27.5 |
| Calcium Regulation in the Cardiac Cell | RGS6,GJB5,CHRM2,FKBP1A,RGS5B,RGS16,CX55.5,RGS5,GNB3B,GNB5B |
Protein Function
GJB2 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 GJB2 itself. We selected most functions GJB2 had, and list some proteins which have the same functions with GJB2. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| gap junction channel activity | CX30.3,CX52.6,GJA10,GJD3,GJB3,GJA1,CX23,CX43,GJA8,GJC2 |
Interacting Protein
GJB2 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 GJB2 here. Most of them are supplied by our site. Hope this information will be useful for your research of GJB2.
CD14;SNX3;TFRC;ACKR3;PSMD2;RAB11FIP2;INADL;PIEZO1;SLC35E1;SLC38A2;MUC13;ANTXR1;CLSPN;PACSIN3
Resources
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References
- Nayak, G; Varga, L; et al. Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing loss. HUMAN GENETICS 134:423-437(2015).
- Homeida, L; Wiley, RT; et al. Oral squamous cell carcinoma in a patient with keratitis-ichthyosis-deafness syndrome: a rare case. ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY 119:E226-E232(2015).
