Property Summary

NCBI Gene PubMed Count 20
PubMed Score 137.26
PubTator Score 35.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (15)

Disease log2 FC p
Rheumatoid Arthritis 1.200 5.5e-03
astrocytic glioma -1.800 1.9e-02
ependymoma -2.400 2.9e-02
glioblastoma -2.200 4.4e-06
osteosarcoma -2.283 5.1e-08
atypical teratoid / rhabdoid tumor -2.800 9.0e-10
medulloblastoma, large-cell -1.200 5.2e-04
primitive neuroectodermal tumor -1.100 6.4e-03
tuberculosis 1.100 1.8e-03
Breast cancer 2.100 3.1e-02
pediatric high grade glioma -1.600 1.1e-05
subependymal giant cell astrocytoma -1.541 2.8e-02
nasopharyngeal carcinoma 1.100 1.6e-03
Pick disease 1.500 1.2e-03
ovarian cancer 1.100 2.7e-03

Gene RIF (12)

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.
20797691 A pathogenic mutation was identified in TBC1D24.
20727515 Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy.

AA Sequence

MDSPGYNCFVDKDKMDAAIQDLGPKELSCTELQELKQLARQGYWAQSHALRGKVYQRLIRDIPCRTVTPD      1 - 70
ASVYSDIVGKIVGKHSSSCLPLPEFVDNTQVPSYCLNARGEGAVRKILLCLANQFPDISFCPALPAVVAL     71 - 140
LLHYSIDEAECFEKACRILACNDPGRRLIDQSFLAFESSCMTFGDLVNKYCQAAHKLMVAVSEDVLQVYA    141 - 210
DWQRWLFGELPLCYFARVFDVFLVEGYKVLYRVALAILKFFHKVRAGQPLESDSVKQDIRTFVRDIAKTV    211 - 280
SPEKLLEKAFAIRLFSRKEIQLLQMANEKALKQKGITVKQKSVSLSKRQFVHLAVHAENFRSEIVSVREM    281 - 350
RDIWSWVPERFALCQPLLLFSSLQHGYSLARFYFQCEGHEPTLLLIKTTQKEVCGAYLSTDWSERNKFGG    351 - 420
KLGFFGTGECFVFRLQPEVQRYEWVVIKHPELTKPPPLMAAEPTAPLSHSASSDPADRLSPFLAARHFNL    421 - 490
PSKTESMFMAGGSDCLIVGGGGGQALYIDGDLNRGRTSHCDTFNNQPLCSENFLIAAVEAWGFQDPDTQ     491 - 559
//

Text Mined References (23)

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.
23343562 2013 TBC1D24 truncating mutation resulting in severe neurodegeneration.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22211675 2012 DFNB86, a novel autosomal recessive non-syndromic deafness locus on chromosome 16p13.3.
21250943 2011 TBC proteins: GAPs for mammalian small GTPase Rab?
20797691 2010 A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
20727515 2010 TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
19077034 2009 Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17646400 2007 Functional dissection of Rab GTPases involved in primary cilium formation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
10574461 1999 Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.