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

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

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

Synonym

Accession Q9ULP9 A0JNW3 B9A6M6 Q2KJ08
Symbols FIME
DOORS
TLDC6
DFNA65
DFNB86
EIEE16

Gene

PANTHER Protein Class (2)

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.
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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.
More...