GeneID: 124

Description:
Olfactory receptors (ORs) are members of a large family of G-protein-coupled receptors (GPCR) that transverse the membrane seven times and are located on the sensory neurons of nasal epithelium. The OR gene family is the largest in the genome and exists as clusters of genes in specific genomic locations. ORs bind to odorant molecules and transduce signals via a G protein, in turn activating downstream effector molecules that trigger the perception of smell. The olfactory system is highly discriminating and each OR can be activated by multiple odorants of similar structure. The ORs are grouped into subfamilies based on the type of odorant structure detected. OR51B5 encodes the olfactory receptor family 51 subfamily B member 5. The nomenclature assigned to the OR genes and proteins for this organism is independent of other organisms. The β-globin gene locus is surrounded by a large cluster of OR genes. Polymorphisms in this gene associated with HbF levels in patients with sickle cell disease.

Synonyms: OR11-37

Comments:
N/A

Number of entries/variants: 15

1. Malnic B, Godfrey PA, Buck LB, The human olfactory receptor gene family., Proc. Natl. Acad. Sci. U.S.A. , 101(8), 2584-9, 2004 PubMed
2. Niimura Y, Nei M, Evolutionary dynamics of olfactory and other chemosensory receptor genes in vertebrates., J. Hum. Genet. , 51(6), 505-17, 2006 PubMed
3. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 PubMed
4. Solovieff N, Milton JN, Hartley SW, Sherva R, Sebastiani P, Dworkis DA, Klings ES, Farrer LA, Garrett ME, Ashley-Koch A, Telen MJ, Fucharoen S, Ha SY, Li CK, Chui DH, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster., Blood , 115(9), 1815-22, 2010 PubMed