| Tbio | Gap junction gamma-2 protein |
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.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| LYMPHEDEMA, HEREDITARY, IC | 1 | 0.0 | 0.0 |
| Leukodystrophy, Hypomyelinating, 2 | 1 | 0.0 | 0.0 |
| Spastic Paraplegia 44, Autosomal Recessive | 1 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Milroy Disease | 3 |
| SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE (disorder) | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| psoriasis | 6694 | 7.5e-25 |
| lung adenocarcinoma | 2716 | 6.9e-07 |
| breast carcinoma | 1638 | 6.8e-06 |
| adult high grade glioma | 3801 | 7.6e-04 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Leukodystrophy | 55 | 0.0 | 4.0 |
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| hereditary spastic paraplegia | 318 | 0.0 | 4.0 |
| Disease | Target Count |
|---|---|
| Lymphedema, Hereditary, 1C | 1 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.100 | 7.6e-04 |
| breast carcinoma | -1.100 | 6.8e-06 |
| lung adenocarcinoma | -1.100 | 6.9e-07 |
| psoriasis | -1.200 | 7.5e-25 |
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDA 1 - 70 FAPLSHVRFWVFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPAD 71 - 140 LGEEEPMLGLGEEEEEEETGAAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLM 141 - 210 RVYVAQLVARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLL 211 - 280 LNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYSLVVRAAERARAHDQNL 281 - 350 ANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSAGTVGEQGRPGTHERPGAKPR 351 - 420 AGSEKGSASSRDGKTTVWI 421 - 439 //
