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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 (1)

Species Source Disease
Mouse OMA EggNOG Inparanoid

 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
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Text Mined References (47)

PMID Year Title