| Tbio | TBC1 domain family member 24 |
May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function.
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| DEAFNESS, AUTOSOMAL DOMINANT 65 | 1 | 0.0 | 0.0 |
| DEAFNESS, AUTOSOMAL RECESSIVE 86 | 1 | 0.0 | 0.0 |
| Myoclonic Epilepsies, Progressive | 44 | 0.0 | 0.0 |
| Disease | Target Count |
|---|---|
| Digitorenocerebral Syndrome | 1 |
| Epilepsy, Myoclonic, Infantile | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 6.2e-07 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.2e-04 |
| glioblastoma | 5792 | 3.1e-04 |
| medulloblastoma, large-cell | 6241 | 5.2e-04 |
| Pick disease | 1894 | 1.2e-03 |
| nasopharyngeal carcinoma | 1058 | 1.6e-03 |
| adult high grade glioma | 3801 | 1.6e-03 |
| tuberculosis | 2010 | 1.8e-03 |
| ovarian cancer | 8520 | 2.7e-03 |
| Rheumatoid arthritis | 1191 | 5.5e-03 |
| primitive neuroectodermal tumor | 3035 | 6.4e-03 |
| astrocytic glioma | 2597 | 1.9e-02 |
| subependymal giant cell astrocytoma | 2287 | 2.8e-02 |
| ependymoma | 4679 | 2.9e-02 |
| Breast cancer | 3578 | 3.1e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hyperekplexia | 16 | 3.725 | 1.9 |
| Coffin-Siris syndrome | 17 | 3.442 | 1.7 |
| Agenesis of the corpus callosum with peripheral neuropathy | 5 | 3.218 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| adult high grade glioma | -1.500 | 1.6e-03 |
| astrocytic glioma | -1.800 | 1.9e-02 |
| atypical teratoid / rhabdoid tumor | -1.300 | 1.2e-04 |
| Breast cancer | 2.100 | 3.1e-02 |
| ependymoma | -2.400 | 2.9e-02 |
| glioblastoma | -1.100 | 3.1e-04 |
| medulloblastoma, large-cell | -1.200 | 5.2e-04 |
| nasopharyngeal carcinoma | 1.100 | 1.6e-03 |
| osteosarcoma | 2.264 | 6.2e-07 |
| ovarian cancer | 1.100 | 2.7e-03 |
| Pick disease | 1.500 | 1.2e-03 |
| primitive neuroectodermal tumor | -1.100 | 6.4e-03 |
| Rheumatoid arthritis | 1.200 | 5.5e-03 |
| subependymal giant cell astrocytoma | -1.541 | 2.8e-02 |
| tuberculosis | 1.100 | 1.8e-03 |
MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPD 1 - 70 ASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVAL 71 - 140 LLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYA 141 - 210 DWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTV 211 - 280 SPEKLLEKAFAIRLFSRKEIQLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREM 281 - 350 RDIWSWVPERFALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGG 351 - 420 KLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNL 421 - 490 PSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ 491 - 559 //
