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

NameALFRED UIDLocus SymbolChromosomeBand Position
Catechol-O-methyltransferaseLO000195PCOMT2222q11.21
Synonyms:
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence    Neuromuscular Disease Center    Drugs for Parkinson's disease    COMT links   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: The COMT gene encodes catechol-O-methyltransferase (COMT; EC 2.1.1.6), which is a major enzymatic inactivator of the neurotransmitters dopamine, norepinephrine and epinephrine (Cooper et al., 1996). The COMT protein exists as two length variants, soluble (S-COMT) and membrane-bound (MB-COMT), and expresses differently in various tissues (Bertocci et al., 1991) [PubMed ID: 1847521]. The COMT gene contains six exons, of which exons 1 and 2 are noncoding. MB-ATG and S-ATG codons, responsible for the initiation of translation of the MB-COMT and S-COMT, are located in exon 3 (Tenhunen et al., 1994) [PubMed ID: 8055944]. Two distinct COMT-specific transcripts, 1.3 kb and 1.5 kb, were regulated by the proximal promoter (P1), which is located between the two translation initiation codons and extending approximately 200 bp upstream of the MB-ATG initiation codon, and the distal promoter (P2), which is located in a DNA fragment in front of and partly overlapping the transcription-start region of the 1.5-kb transcript, respectively (Tenhunen et al., 1994 [PubMed ID: 8055944] and Lundstrom et al., 1995 [PubMed ID: 7647086]). The COMT gene was localized on chromosome 22q11.1-q11.2 by using Southern blot analysis of panels of somatic cell hybrids and chromosomal in situ hybridization (Grossman et al., 1992 [PubMed ID: 1572656] and Winqvist et al., 1992 [PubMed ID: 1347500]).
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-PositionStatus# Populations
typed
4-site upstream haplotype(rs9606186,rs5746848,rs5748489,rs2075507)   1992035943
7-site haplotype   1992809237
3-site haplotype (HindIII, NlaIII, BglI)   1992809232
C__11731880_1_rs2020917   1992888446
5-site haplotype(rs2020917,rs737865,rs933271,rs174675,rs5993882)   1992888443
C___2539273_1_rs933271   1993140744
rs1544325rs1544325   1993166851
rs174675rs174675   1993405187
C___3274705_1_rs5993882   1993753344
rs5993883rs5993883   1993763851
5-site haplotype (rs5746849,rs740603,rs4646312,rs165722,rs6269)   1994299743
rs5746849rs5746849   1994299743
C__11804654_20rs740603   1994517744
Intron 1 67bp_Ins/Delrs174694   1994732237
C__11804650_1_rs4646312   1994833744
C___2539306_1_rs165722   1994901343
C___2538746_1_rs6269   1994995244
C___2538747_1_rs4633   1995023544
4-site haplotype(rs4633,rs740602,rs4818,rs4680)   1995023543
rs740602rs740602   1995026844
rs2239393rs2239393   1995042851
rs4818rs4818   1995120745
exon 4 Val158Met (NlaIII codon 158)rs4680   1995127187
2-site haplotype (NlaIII, BglI)   1995127129
C_7543740 rs769224   1995180444
rs4646316rs4646316   1995213251
rs165774rs165774   1995256151
C___2255331_1_rs174699   1995445858
exon 6 BglI rs362204   1995626244
5-site haplotype (rs165599,rs165728,rs165815,rs887199,rs887204)   1995678143
rs165599 (ss232577)rs165599   1995678144
C___2255336_1_rs165728   1995702358
intron 1 (TAAA) tetranucleotide repeat   37

References:
- Bertocci B, Miggiano V, Da Prada M, Dembic Z, Lahm HW, Malherbe P. "Human catechol-O-methyltransferase: cloning and expression of the membrane-associated form". Proc. Natl. Acad. Sci. U. S. A. 88:1416-20. (1991) Online citation.

- Cooper JR, Bloom FE, Roth RH. "The Biochemical Basis of Neuropharmacology". New York: Oxford University Press. 7th edition. (1996)

- Grossman MH, Emanuel BS, Budarf ML. "Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2". Genomics 12:822-5. (1992) Online citation.

- Lundstrom K, Tenhunen J, Tilgmann C, Karhunen T, Panula P, Ulmanen I. "Cloning, expression and structure of catechol-O-methyltransferase". Biochim. Biophys. Acta. 1251:1-10. (1995) Online citation.

- Palmatier MA, Kang AM, Kidd KK. "Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles". Biol. Psychiatry. 46:557-67. (1999) Online citation.

- Tenhunen J, Salminen M, Lundstrom K, Kiviluoto T, Savolainen R, Ulmanen I. "Genomic organization of the human catechol O-methyltransferase gene and its expression from two distinct promoters". Eur. J. Biochem. 223:1049-59. (1994) Online citation.

- Winqvist R, Lundstrom K, Salminen M, Laatikainen M, Ulmanen I. "The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI". Cytogenet. Cell Genet. 59:253-7. (1992) 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