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) [1] Band 15q21.3 Start 53,513,741 bp [1] End 53,762,878 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 D Start 74,017,638 bp [2] End 74,190,590 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS n/a
Orthologs Species Human Mouse Entrez 256764 546144 Ensembl ENSG00000166415 ENSMUSG00000044976 UniProt Q3MJ13 D3YYM4 RefSeq (mRNA) NM_001277176 NM_182758 NM_001033500 NM_177908 RefSeq (protein) NP_001264105 NP_877435 NP_001028672 Location (UCSC) Chr 15: 53.51 – 53.76 Mb Chr 9: 74.02 – 74.19 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000166415 – Ensembl, May 2017
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.
5. "Entrez Gene: WD repeat domain 72".
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.

Further reading

• Rose JE, Behm FM, Drgon T, et al. (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC   2896464 . PMID   20379614.
• 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. S2CID   30790619.
• 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.
• Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• 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.