WDR62

WD repeat domain 62
Identifiers
Symbols	WDR62 ; C19orf14; MCPH2
External IDs	OMIM: 613583 MGI: 1923696 HomoloGene: 15927 GeneCards: WDR62 Gene
Gene ontology Molecular function • protein binding Cellular component • spindle pole • nucleus • centrosome • centriole Biological process • mitotic spindle organization • centriole replication • cerebral cortex development • neurogenesis Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	284403	233064
Ensembl	ENSG00000075702	ENSMUSG00000037020
UniProt	O43379	n/a
RefSeq (mRNA)	NM_001083961	NM_146186
RefSeq (protein)	NP_001077430	NP_666298
Location (UCSC)	Chr 19: 36.05 – 36.11 Mb	Chr 7: 30.24 – 30.28 Mb
PubMed search

WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.^[1][2]

Clinical relevance

Mutations in the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including microcephaly,^[3] pachygyria with cortical thickening, hypoplasia of the corpus callosum^[1] as well as polymicrogyria.^[4]

References

1. Bilgüvar K, Oztürk AK, Louvi A, Kwan KY, Choi M, Tatli B, Yalnizoğlu D, Tüysüz B, Cağlayan AO, Gökben S, Kaymakçalan H, Barak T, Bakircioğlu M, Yasuno K, Ho W, Sanders S, Zhu Y, Yilmaz S, Dinçer A, Johnson MH, Bronen RA, Koçer N, Per H, Mane S, Pamir MN, Yalçinkaya C, Kumandaş S, Topçu M, Ozmen M, Sestan N, Lifton RP, State MW, Günel M (September 2010). "Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations". Nature 467 (7312): 207–10. doi:10.1038/nature09327. PMC 3129007. PMID 20729831.
2. "Entrez Gene: WDR62 WD repeat domain 62".
3. Bhat V, Girimaji SC, Mohan G, Arvinda HR, Singhmar P, Duvvari MR, Kumar A (December 2011). "Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations". Clin. Genet. 80 (6): 532–40. doi:10.1111/j.1399-0004.2011.01686.x. PMID 21496009.
4. Murdock DR, Clark GD, Bainbridge MN, Newsham I, Wu YQ, Muzny DM, Cheung SW, Gibbs RA, Ramocki MB (September 2011). "Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria". Am. J. Med. Genet. A 155A (9): 2071–7. doi:10.1002/ajmg.a.34165. PMID 21834044.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
• Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.