Property Summary

NCBI Gene PubMed Count 15
PubMed Score 5.67
PubTator Score 5.78

Knowledge Summary

Patent (583)

Expression

  Differential Expression (2)

Disease log2 FC p
tuberculosis 2.100 0.000
ovarian cancer -1.800 0.000

Gene RIF (5)

PMID Text
27040692 We have established that biallelic mutations in TBCK cause a severe neurodevelopmental disorder whose major features include profound developmental delay or cognitive deficit, brain atrophy without microcephaly.
27040691 We have reported a series of 13 individuals from nine unrelated families that harbor biallelic mutation in TBCK and display overlapping features of intellectual disability and hypotonia. This condition is called TBCK-related intellectual disability syndrome.
24576458 localization and function of TBCK
23977024 TBCK may play an important role in cell proliferation, cell growth and actin organization possibly by modulating mTOR pathway.
20332099 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MFPLKDAEMGAFTFFASALPHDVCGSNGLPLTPNSIKILGRFQILKTITHPRLCQYVDISRGKHERLVVV      1 - 70
AEHCERSLEDLLRERKPVSCSTVLCIAFEVLQGLQYMNKHGIVHRALSPHNILLDRKGHIKLAKFGLYHM     71 - 140
TAHGDDVDFPIGYPSYLAPEVIAQGIFKTTDHMPSKKPLPSGPKSDVWSLGIILFELCVGRKLFQSLDIS    141 - 210
ERLKFLLTLDCVDDTLIVLAEEHGCLDIIKELPETVIDLLNKCLTFHPSKRPTPDQLMKDKVFSEVSPLY    211 - 280
TPFTKPASLFSSSLRCADLTLPEDISQLCKDINNDYLAERSIEEVYYLWCLAGGDLEKELVNKEIIRSKP    281 - 350
PICTLPNFLFEDGESFGQGRDRSSLLDDTTVTLSLCQLRNRLKDVGGEAFYPLLEDDQSNLPHSNSNNEL    351 - 420
SAAATLPLIIREKDTEYQLNRIILFDRLLKAYPYKKNQIWKEARVDIPPLMRGLTWAALLGVEGAIHAKY    421 - 490
DAIDKDTPIPTDRQIEVDIPRCHQYDELLSSPEGHAKFRRVLKAWVVSHPDLVYWQGLDSLCAPFLYLNF    491 - 560
NNEALAYACMSAFIPKYLYNFFLKDNSHVIQEYLTVFSQMIAFHDPELSNHLNEIGFIPDLYAIPWFLTM    561 - 630
FTHVFPLHKIFHLWDTLLLGNSSFPFCIGVAILQQLRDRLLANGFNECILLFSDLPEIDIERCVRESINL    631 - 700
FCWTPKSATYRQHAQPPKPSSDSSGGRSSAPYFSAECPDPPKTDLSRESIPLNDLKSEVSPRISAEDLID    701 - 770
LCELTVTGHFKTPSKKTKSSKPKLLVVDIRNSEDFIRGHISGSINIPFSAAFTAEGELTQGPYTAMLQNF    771 - 840
KGKVIVIVGHVAKHTAEFAAHLVKMKYPRICILDGGINKIKPTGLLTIPSPQI                     841 - 893
//

Text Mined References (17)

PMID Year Title
27040692 2016 Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
27040691 2016 Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
24576458 2014 A long type of TBCK is a novel cytoplasmic and mitotic apparatus-associated protein likely suppressing cell proliferation.
23977024 2013 TBCK influences cell proliferation, cell size and mTOR signaling pathway.
22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
21250943 2011 TBC proteins: GAPs for mammalian small GTPase Rab?
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19077034 2009 Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
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