WDR72

WDR72
Identifiers
Aliases	WDR72, AI2A3, WD repeat domain 72
External IDs	OMIM: 613214; MGI: 3583957; HomoloGene: 52326; GeneCards: WDR72; OMA:WDR72 - orthologs
Gene location (Human)
Chr.	Chromosome 15 (human)
End	53,762,878 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	74,190,590 bp
RNA expression pattern
	Top expressed in
	pancreatic ductal cell; ; renal medulla; ; parotid gland; ; thyroid gland; ; liver; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; right lobe of liver; ; human kidney; ; skin of thigh;
	Top expressed in
	right kidney; ; human kidney; ; renal cortex; ; proximal tubule; ; secondary oocyte; ; morula; ; zygote; ; blastocyst; ; primary oocyte; ; embryo;
	More reference expression data
	n/a
Orthologs
	256764
	546144
	ENSG00000166415
	ENSMUSG00000044976
	Q3MJ13
	D3YYM4
	NM_001277176; NM_182758
	NM_001033500; NM_177908
	NP_001264105; NP_877435
	NP_001028672
	Wikidata
View/Edit Human	View/Edit Mouse

WD repeat-containing protein 72 is a protein that in humans is encoded by the WDR72 gene.^[5] WDR72 contains 7 WD40 repeats, which are predicted to form the blades of a 7 beta propeller structure.

Clinical significance

Mutations in this gene cause autosomal-recessive hypomaturation amelogenesis imperfecta.^[6]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000166415 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000044976 – 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.
^ "Entrez Gene: WD repeat domain 72".
^ El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ (November 2009). "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. Genet. 85 (5): 699–705. doi:10.1016/j.ajhg.2009.09.014. PMC 2775821. PMID 19853237.

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Kamatani Y, Matsuda K, Okada Y, et al. (2010). "Genome-wide association study of hematological and biochemical traits in a Japanese population". Nat. Genet. 42 (3): 210–5. doi:10.1038/ng.531. PMID 20139978.
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.
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.
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Paterson AD, Waggott D, Boright AP, et al. (2010). "A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose". Diabetes. 59 (2): 539–49. doi:10.2337/db09-0653. PMC 2809960. PMID 19875614.
Köttgen A, Pattaro C, Böger CA, et al. (2010). "New loci associated with kidney function and chronic kidney disease". Nat. Genet. 42 (5): 376–84. doi:10.1038/ng.568. PMC 2997674. PMID 20383146.
El-Sayed W, Parry DA, Shore RC, et al. (2009). "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. Genet. 85 (5): 699–705. doi:10.1016/j.ajhg.2009.09.014. PMC 2775821. PMID 19853237.

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000166415 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000044976 – 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.

[entrez-5] "Entrez Gene: WD repeat domain 72".

[pmid19853237-6] El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ (November 2009). "Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta". Am. J. Hum. Genet. 85 (5): 699–705. doi:10.1016/j.ajhg.2009.09.014. PMC 2775821. PMID 19853237.

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Clinical significance

References

Further reading