ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
Adrenergic, beta-2-, receptor, surface	LO000206I	ADRB2	5	5q31-q32

Synonyms: ADRBR ; ADRB2R ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence GenBank sequence GenBank sequence GenBank sequence UniGene PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: This gene encodes beta-2-adrenergic receptor, which is a member of the G protein-coupled receptor superfamily and is expressed mainly on skeletal and cardiac muscle cells and lymphocytes (Xu et al., 2000) [PubMed ID: 10606977]. The ADRB2 gene is located on chromosome 5 at 5q31-q32 (Kobilka et al., 1987) [PubMed ID: 3025863]. Mutations in this gene were first reported in 1995 by Turki et al. [PubMed ID: 7706471]. There are five adrenoceptor subtypes (beta 1, beta 2, beta 3, alpha 1, and alpha 2) involved in the control of white and brown fat cell function. Only beta adrenoceptors are intensively regulated by insulin, estrogens, androgens (Arner, 1992) [PubMed ID: 1309480] and by thyroid hormones (Fain and Garcia-Sainz, 1983) [PubMed ID: 6313835]. Different polymorphic sites and point mutations of this gene found in various ethnic populations have been reported to be associated with many different disorders (Svetkey et al., 1996 [PubMed ID: 8641726], Rosmond et al., 2000 [PubMed ID: 10971791], Turki et al., 1995 [PubMed ID: 7706471], Ishiyama-Shigemoto et al., 1999 [PubMed ID: 10027586], and Hirose et al., 1999 [PubMed ID: 9935173]).
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
G/A +46	rs1042713	148186633	9
C/T +491	rs1800888	148187078	4
rs2400707	rs2400707	148205052	50
rs2053044	rs2053044	148205372	50
rs12654778	rs12654778	148205741	51
rs1801704	rs1801704	148206375	50
SNP3-ADRB2	rs1042713	148206440	5
G/C +79	rs1042714	148206473	7
G/A +252	rs1042717	148206646	3
SNP4-ADRB2	rs1800888	148206885	5
C/A +523	rs1042718	148206917	54
rs4705271	rs4705271	148211991	50
rs3857420	rs3857420	148213082	51

References:
- Arner P. "Adrenergic receptor function in fat cells". Am. J. Clin. Nutr. 55:228S-236S. (1992) Online citation.

- Fain JN, Garcia-Sainz JA. "Adrenergic regulation of adipocyte metabolism". J. Lipid Res. 24:945-66. (1983) Online citation.

- Goddard KA, Hopkins PJ, Hall JM, Witte JS. "Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations ". Am. J. Hum. Genet. 66:216-234. (2000) Online citation.

- Hirose K, Tajima K, Hamajima N, Takezaki T, Inoue M, Kuroishi T, Miura S, Tokudome S. "Effect of body size on breast-cancer risk among Japanese women". Int. J. Cancer 80:349-55. (1999) Online citation.

- Ishiyama-Shigemoto S, Yamada K, Yuan X, Ichikawa F, Nonaka K. "Association of polymorphisms in the beta2-adrenergic receptor gene with obesity, hypertriglyceridaemia, and diabetes mellitus". Diabetologia 42:98-101. (1999) Online citation.

- Kobilka BK, Dixon RA, Frielle T, Dohlman HG, Bolanowski MA, Sigal IS, Yang-Feng TL, Francke U, Caron MG, Lefkowitz RJ. "cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor". Proc. Natl. Acad. Sci. U. S. A. 84:46-50. (1987) Online citation.

- Rosmond R, Ukkola O, Chagnon M, Bouchard C, Bjorntorp P. "Polymorphisms of the beta2-adrenergic receptor gene (ADRB2) in relation to cardiovascular risk factors in men". J. Intern. Med. 248:239-44. (2000) Online citation.

- Rupert JL, Devine DV, Hochachka PW. "Frequencies of alleles associated with the increased risk of cardiovascular disease in high altitude natives". J. Mol. Cell. Cardio. 31:A38. (1999)

- Rupert JL, Monsalve MV, Devine DV, Hochachka PW. "Beta2-adrenergic receptor allele frequencies in the Quechua, a high altitude native population". Ann. Hum. Genet. 64:135-43. (2000) Online citation.

- Svetkey LP, Timmons PZ, Emovon O, Anderson NB, Preis L, Chen YT. "Association of hypertension with beta2- and alpha2c10-adrenergic receptor genotype". Hypertension 27:1210-5. (1996) Online citation.

- Turki J, Pak J, Green SA, Martin RJ, Liggett SB. "Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype". J. Clin. Invest. 95:1635-41. (1995) Online citation.

- Xu BY, Huang D, Pirskanen R, Lefvert AK. "beta2-adrenergic receptor gene polymorphisms in myasthenia gravis (MG)". Clin. Exp. Immunol. 119:156-60. (2000) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan