Gene Family: Gap junction proteins (GJ)
Gap junction proteins: Connexins, or gap junction proteins, are a family of structurally related transmembrane proteins that assemble to form vertebrate gap junctions (an entirely different family of proteins, the innexins, form gap junctions in invertebrates). Each gap junction is composed of two hemichannels, or connexons, which are themselves each constructed out of six connexin molecules. Gap junctions are essential for many physiological processes, such as the coordinated depolarization of cardiac muscle, proper embryonic development, and the conducted response in microvasculature. For this reason, mutations in connexin-encoding genes can lead to functional and developmental abnormalities. [Source: Wikipedia]
Genes contained within the family: 22
| Approved Symbol | Approved Name | Previous Symbols | Synonyms | Chromosome |
|---|---|---|---|---|
| GJA1 | gap junction protein alpha 1 | ODDD, GJAL | CX43, ODD, ODOD, SDTY3 | 6q22.31 |
| GJA3 | gap junction protein alpha 3 | CZP3 | CX46 | 13q12.11 |
| GJA4 | gap junction protein alpha 4 | CX37 | 1p34.3 | |
| GJA5 | gap junction protein alpha 5 | CX40 | 1q21.2 | |
| GJA6P | gap junction protein alpha 6 pseudogene | Xp22.13 | ||
| GJA8 | gap junction protein alpha 8 | CAE1, CZP1, CAE | CX50 | 1q21.2 |
| GJA9 | gap junction protein alpha 9 | GJA10 | CX59, CX58 | 1p34.3 |
| GJA10 | gap junction protein alpha 10 | CX62 | 6q15 | |
| GJB1 | gap junction protein beta 1 | CMTX1, CMTX | CX32 | Xq13.1 |
| GJB2 | gap junction protein beta 2 | DFNB1, DFNA3 | CX26, NSRD1 | 13q12.11 |
| GJB3 | gap junction protein beta 3 | DFNA2, EKV | CX31 | 1p34.3 |
| GJB4 | gap junction protein beta 4 | CX30.3 | 1p34.3 | |
| GJB5 | gap junction protein beta 5 | CX31.1 | 1p34.3 | |
| GJB6 | gap junction protein beta 6 | DFNA3, ED2 | EDH, HED, CX30 | 13q12.11 |
| GJB7 | gap junction protein beta 7 | CX25, bA136M9.1 | 6q14.3-q15 | |
| GJC1 | gap junction protein gamma 1 | GJA7 | CX45 | 17q21.31 |
| GJC2 | gap junction protein gamma 2 | GJA12 | CX47, CX46.6, SPG44 | 1q42.13 |
| GJC3 | gap junction protein gamma 3 | GJE1 | CX30.2 | 7q22.1 |
| GJD2 | gap junction protein delta 2 | GJA9 | CX36 | 15q14 |
| GJD3 | gap junction protein delta 3 | GJC1 | CX31.9, GJA11, Cx30.2 | 17q21.2 |
| GJD4 | gap junction protein delta 4 | CX40.1, FLJ90023 | 10p11.21 | |
| GJE1 | gap junction protein epsilon 1 | CX23 | 6q24.1 |
