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Tbio WD repeat-containing protein 62

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration (PubMed:20890278, PubMed:20729831). Plays a role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and CEP63 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806).

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2011]

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Property Summary

NCBI Gene PubMed Count 38
PubMed Score 35.46
PubTator Score 31.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count P-value
malignant mesothelioma 3232 9.3e-07
acute quadriplegic myopathy 1158 2.2e-06
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
second-degree atrioventricular block 4 3.66 1.8
Lissencephaly 69 3.227 1.6

Expression

  Differential Expression (2)

Disease log2 FC p
acute quadriplegic myopathy -1.357 2.2e-06
malignant mesothelioma 1.400 9.3e-07

Synonym

Accession O43379 Q63HP9 Q659D7 Q8NBF7 Q96AD9
Symbols MCPH2
C19orf14

Gene

WDR62

  Ortholog (7)

Species Source Disease
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid OMA
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid OMA
Inparanoid OMA EggNOG

 UniProt Keyword (15)

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 GO Function (1)

 GO Component (7)

 GO Process (5)

 Compartment GO Term (39)

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 IMPC Phenotype (2)

 OMIM Phenotype (1)

 MGI Phenotype (10)

 HCA RNA Cell Line (56)

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Gene RIF (21)

AA Sequence 

MAAVGSGGYARNDAGEKLPSVMAGVPARRGQSSPPPAPPICLRRRTRLSTASEETVQNRVSLEKVLGITA      1 - 70
QNSSGLTCDPGTGHVAYLAGCVVVILDPKENKQQHIFNTARKSLSALAFSPDGKYIVTGENGHRPAVRIW     71 - 140
DVEEKNQVAEMLGHKYGVACVAFSPNMKHIVSMGYQHDMVLNVWDWKKDIVVASNKVSCRVIALSFSEDS    141 - 210
SYFVTVGNRHVRFWFLEVSTETKVTSTVPLVGRSGILGELHNNIFCGVACGRGRMAGSTFCVSYSGLLCQ    211 - 280
FNEKRVLEKWINLKVSLSSCLCVSQELIFCGCTDGIVRIFQAHSLHYLANLPKPHYLGVDVAQGLEPSFL    281 - 350
FHRKAEAVYPDTVALTFDPIHQWLSCVYKDHSIYIWDVKDINRVGKVWSELFHSSYVWNVEVYPEFEDQR    351 - 420
ACLPSGSFLTCSSDNTIRFWNLDSSPDSHWQKNIFSNTLLKVVYVENDIQHLQDMSHFPDRGSENGTPMD    421 - 490
VKAGVRVMQVSPDGQHLASGDRSGNLRIHELHFMDELVKVEAHDAEVLCLEYSKPETGLTLLASASRDRL    491 - 560
IHVLNVEKNYNLEQTLDDHSSSITAIKFAGNRDIQMISCGADKSIYFRSAQQGSDGLHFVRTHHVAEKTT    561 - 630
LYDMDIDITQKYVAVACQDRNVRVYNTVNGKQKKCYKGSQGDEGSLLKVHVDPSGTFLATSCSDKSISVI    631 - 700
DFYSGECIAKMFGHSEIITSMKFTYDCHHLITVSGDSCVFIWHLGPEITNCMKQHLLEIDHRQQQQHTND    701 - 770
KKRSGHPRQDTYVSTPSEIHSLSPGEQTEDDLEEECEPEEMLKTPSKDSLDPDPRCLLTNGKLPLWAKRL    771 - 840
LGDDDVADGLAFHAKRSYQPHGRWAERAGQEPLKTILDAQDLDCYFTPMKPESLENSILDSLEPQSLASL    841 - 910
LSESESPQEAGRGHPSFLPQQKESSEASELILYSLEAEVTVTGTDSQYCRKEVEAGPGDQQGDSYLRVSS    911 - 980
DSPKDQSPPEDSGESEADLECSFAAIHSPAPPPDPAPRFATSLPHFPGCAGPTEDELSLPEGPSVPSSSL    981 - 1050
PQTPEQEKFLRHHFETLTESPCRALGDVEASEAEDHFFNPRLSISTQFLSSLQKASRFTHTFPPRATQCL   1051 - 1120
VKSPEVKLMDRGGSQPRAGTGYASPDRTHVLAAGKAEETLEAWRPPPPCLTSLASCVPASSVLPTDRNLP   1121 - 1190
TPTSAPTPGLAQGVHAPSTCSYMEATASSRARISRSISLGDSEGPIVATLAQPLRRPSSVGELASLGQEL   1191 - 1260
QAITTATTPSLDSEGQEPALRSWGNHEARANLRLTLSSACDGLLQPPVDTQPGVTVPAVSFPAPSPVEES   1261 - 1330
ALRLHGSAFRPSLPAPESPGLPAHPSNPQLPEARPGIPGGTASLLEPTSGALGLLQGSPARWSEPWVPVE   1331 - 1400
ALPPSPLELSRVGNILHRLQTTFQEALDLYRVLVSSGQVDTGQQQARTELVSTFLWIHSQLEAECLVGTS   1401 - 1470
VAPAQALPSPGPPSPPTLYPLASPDLQALLEHYSELLVQAVRRKARGH                         1471 - 1518
//

Text Mined References (47)

PMID Year Title