| 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
Property Summary
| NCBI Gene PubMed Count | 20 |
| Grant Count | 231 |
| R01 Count | 19 |
| Funding | $52,233,446.58 |
| PubMed Score | 137.26 |
| PubTator Score | 35.58 |
| Disease | log2 FC | p |
|---|---|---|
| Rheumatoid Arthritis | 1.200 | 0.006 |
| astrocytic glioma | -1.800 | 0.019 |
| ependymoma | -2.400 | 0.029 |
| glioblastoma | -2.200 | 0.000 |
| osteosarcoma | -2.283 | 0.000 |
| atypical teratoid / rhabdoid tumor | -2.800 | 0.000 |
| medulloblastoma, large-cell | -1.200 | 0.001 |
| primitive neuroectodermal tumor | -1.100 | 0.006 |
| tuberculosis | 1.100 | 0.002 |
| Breast cancer | 2.100 | 0.031 |
| pediatric high grade glioma | -1.600 | 0.000 |
| subependymal giant cell astrocytoma | -1.541 | 0.028 |
| nasopharyngeal carcinoma | 1.100 | 0.002 |
| Pick disease | 1.500 | 0.001 |
| ovarian cancer | 1.100 | 0.003 |
| PMID | Text |
|---|---|
| 26371875 | mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco |
| 25557349 | This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes |
| 24729547 | that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear. |
| 24729539 | TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. |
| 24387994 | Recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness in human. |
| 24315024 | Novel variations in TBC1D24 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI). |
| 24291220 | Mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes. |
| 23526554 | we describe a familial form of MMPSI due to mutation in TBC1D24, revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction. |
| 23517570 | A TBC1D24 mutation associated with focal epilepsy, cognitive impairment and cerebro-cerebellar malformation is found in a family with a homozygous TBC1D24 mutation. |
| 23343562 | Findings expand the spectrum of the TBC1D24 mutation phenotype and the transcript isoforms. |
| More... |
MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPD 1 - 70 ASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVAL 71 - 140 LLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYA 141 - 210 DWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTV 211 - 280 SPEKLLEKAFAIRLFSRKEIQLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREM 281 - 350 RDIWSWVPERFALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGG 351 - 420 KLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNL 421 - 490 PSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ 491 - 559 //
| PMID | Year | Title |
|---|---|---|
| 26371875 | 2015 | Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. |
| 25557349 | 2015 | Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. |
| 24729547 | 2014 | A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. |
| 24729539 | 2014 | TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. |
| 24387994 | 2014 | Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. |
| 24315024 | 2014 | Lack of pathogenic mutations in six patients with MMPSI. |
| 24291220 | 2014 | The genetic basis of DOORS syndrome: an exome-sequencing study. |
| 24275569 | 2014 | An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. |
| 23526554 | 2013 | Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. |
| 23517570 | 2013 | TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. |
| More... |
