WDR62

WDR62
Identifiers
Aliases	WDR62, C19orf14, MCPH2, WD repeat domain 62
External IDs	OMIM: 613583; MGI: 1923696; HomoloGene: 15927; GeneCards: WDR62; OMA:WDR62 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	36,105,108 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	29,979,844 bp
RNA expression pattern
	Top expressed in
	thoracic diaphragm; ; triceps brachii muscle; ; vastus lateralis muscle; ; biceps brachii; ; sperm; ; left ventricle; ; myocardium; ; oocyte; ; gastrocnemius muscle; ; ganglionic eminence;
	Top expressed in
	seminiferous tubule; ; spermatocyte; ; spermatid; ; secondary oocyte; ; esophagus; ; morula; ; lip; ; yolk sac; ; thymus; ; white adipose tissue;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; RNA binding;
Cellular component	nucleus; centriole; cytoplasm; centrosome; spindle pole; cytoskeleton; U5 snRNP; precatalytic spliceosome; catalytic step 2 spliceosome; microtubule organizing center; cytosol;
Biological process	mitotic spindle organization; nervous system development; centriole replication; cerebral cortex development; neurogenesis; RNA splicing;
	Sources:Amigo / QuickGO
Orthologs
	284403
	233064
	ENSG00000075702
	ENSMUSG00000037020
	O43379
	Q3U3T8
	NM_001083961; NM_173636
	NM_146186
	NP_001077430; NP_775907
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

WD repeat-containing protein 62 is a protein that in humans is encoded by the WDR62 gene.^[5]^[6]

Clinical relevance

Mutations in the WDR62 gene cause of a wide spectrum of severe cerebral cortical malformations including microcephaly,^[7] pachygyria with cortical thickening, hypoplasia of the corpus callosum^[5] as well as polymicrogyria.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000075702 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037020 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b 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.
^ "Entrez Gene: WDR62 WD repeat domain 62".
^ 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.
^ 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.

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.

This article on a gene on human chromosome 19 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000075702 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037020 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid20729831-5] 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.

[entrez-6] "Entrez Gene: WDR62 WD repeat domain 62".

[pmid21496009-7] 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.

[pmid21834044-8] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

Clinical relevance

References

Further reading