LOCUS NP_000798 451 aa linear PRI 12-OCT-2008
DEFINITION gamma-aminobutyric acid A receptor, alpha 2 precursor [Homo
sapiens].
ACCESSION NP_000798
VERSION NP_000798.2 GI:167000751
DBSOURCE REFSEQ: accession NM_000807.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 451)
AUTHORS Lind,P.A., Macgregor,S., Agrawal,A., Montgomery,G.W., Heath,A.C.,
Martin,N.G. and Whitfield,J.B.
TITLE The role of GABRA2 in alcohol dependence, smoking, and illicit drug
use in an Australian population sample
JOURNAL Alcohol. Clin. Exp. Res. 32 (10), 1721-1731 (2008)
PUBMED 18727688
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (residues 1 to 451)
AUTHORS Enoch,M.A., Hodgkinson,C.A., Yuan,Q., Albaugh,B., Virkkunen,M. and
Goldman,D.
TITLE GABRG1 and GABRA2 as Independent Predictors for Alcoholism in Two
Populations
JOURNAL Neuropsychopharmacology (2008) In press
PUBMED 18818659
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 3 (residues 1 to 451)
AUTHORS Agrawal,A., Pergadia,M.L., Saccone,S.F., Lynskey,M.T., Wang,J.C.,
Martin,N.G., Statham,D., Henders,A., Campbell,M., Garcia,R.,
Broms,U., Todd,R.D., Goate,A.M., Rice,J., Kaprio,J., Heath,A.C.,
Montgomery,G.W. and Madden,P.A.
TITLE An autosomal linkage scan for cannabis use disorders in the
nicotine addiction genetics project
JOURNAL Arch. Gen. Psychiatry 65 (6), 713-721 (2008)
PUBMED 18519829
REMARK GeneRIF: Genes such as ELTD1 on chromosome 1, in addition to genes
on chromosomes 4 (eg, GABRA2) and 6 (eg, CNR1), may be associated
with the genetic risk for cannabis use disorders.
REFERENCE 4 (residues 1 to 451)
AUTHORS Agrawal,A., Pergadia,M.L., Saccone,S.F., Hinrichs,A.L.,
Lessov-Schlaggar,C.N., Saccone,N.L., Neuman,R.J., Breslau,N.,
Johnson,E., Hatsukami,D., Montgomery,G.W., Heath,A.C., Martin,N.G.,
Goate,A.M., Rice,J.P., Bierut,L.J. and Madden,P.A.
TITLE Gamma-aminobutyric acid receptor genes and nicotine dependence:
evidence for association from a case-control study
JOURNAL Addiction 103 (6), 1027-1038 (2008)
PUBMED 18482426
REMARK GeneRIF: Observational study of gene-disease association and
gene-gene interaction. (HuGE Navigator)
REFERENCE 5 (residues 1 to 451)
AUTHORS Lind,P.A., MacGregor,S., Montgomery,G.W., Heath,A.C., Martin,N.G.
and Whitfield,J.B.
TITLE Effects of GABRA2 variation on physiological, psychomotor and
subjective responses in the alcohol challenge twin study
JOURNAL Twin Res Hum Genet 11 (2), 174-182 (2008)
PUBMED 18361719
REMARK GeneRIF: GABRA2 variation contributes to genetic susceptibility to
alcohol dependence. Allelic associations were found for body sway,
motor coordination, pursuit rotor and arithmetical computation
tasks and neuroticism.
GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 451)
AUTHORS Edenberg,H.J., Dick,D.M., Xuei,X., Tian,H., Almasy,L., Bauer,L.O.,
Crowe,R.R., Goate,A., Hesselbrock,V., Jones,K., Kwon,J., Li,T.K.,
Nurnberger,J.I. Jr., O'Connor,S.J., Reich,T., Rice,J.,
Schuckit,M.A., Porjesz,B., Foroud,T. and Begleiter,H.
TITLE Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A)
receptor, are associated with alcohol dependence and with brain
oscillations
JOURNAL Am. J. Hum. Genet. 74 (4), 705-714 (2004)
PUBMED 15024690
REMARK GeneRIF: GABRA2 might influence susceptibility to alcohol
dependence by modulating the level of neural excitation
REFERENCE 7 (residues 1 to 451)
AUTHORS Bonnert,T.P., McKernan,R.M., Farrar,S., le Bourdelles,B.,
Heavens,R.P., Smith,D.W., Hewson,L., Rigby,M.R.,
Sirinathsinghji,D.J., Brown,N., Wafford,K.A. and Whiting,P.J.
TITLE theta, a novel gamma-aminobutyric acid type A receptor subunit
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (17), 9891-9896 (1999)
PUBMED 10449790
REFERENCE 8 (residues 1 to 451)
AUTHORS Russek,S.J.
TITLE Evolution of GABA(A) receptor diversity in the human genome
JOURNAL Gene 227 (2), 213-222 (1999)
PUBMED 10023064
REFERENCE 9 (residues 1 to 451)
AUTHORS Togel,M., Mossier,B., Fuchs,K. and Sieghart,W.
TITLE gamma-Aminobutyric acidA receptors displaying association of gamma
3-subunits with beta 2/3 and different alpha-subunits exhibit
unique pharmacological properties
JOURNAL J. Biol. Chem. 269 (17), 12993-12998 (1994)
PUBMED 8175718
REFERENCE 10 (residues 1 to 451)
AUTHORS Hadingham,K.L., Wingrove,P., Le Bourdelles,B., Palmer,K.J.,
Ragan,C.I. and Whiting,P.J.
TITLE Cloning of cDNA sequences encoding human alpha 2 and alpha 3
gamma-aminobutyric acidA receptor subunits and characterization of
the benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-,
alpha 3-, and alpha 5-containing human gamma-aminobutyric acidA
receptors
JOURNAL Mol. Pharmacol. 43 (6), 970-975 (1993)
PUBMED 8391122
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC095060.3, AB209295.1 and
BX108394.1.
On Feb 6, 2008 this sequence version replaced gi:4557601.
Summary: GABA is the major inhibitory neurotransmitter in the
mammalian brain where it acts at GABA-A receptors, which are
ligand-gated chloride channels. Chloride conductance of these
channels can be modulated by agents such as benzodiazepines that
bind to the GABA-A receptor. At least 16 distinct subunits of
GABA-A receptors have been identified. Alternatively spliced
transcript variants encoding the same protein have been found for
this gene. [provided by RefSeq].
Transcript Variant: This variant (1) encodes the same isoform as
variant 2.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..451
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="4"
/map="4p12"
Protein 1..451
/product="gamma-aminobutyric acid A receptor, alpha 2
precursor"
/note="gamma-aminobutyric acid A receptor, alpha 2"
/calculated_mol_wt=51195
CDS 1..451
/gene="GABRA2"
/gene_synonym="FLJ97076"
/coded_by="NM_000807.2:316..1671"
/db_xref="CCDS:CCDS3471.1"
/db_xref="GeneID:2555"
/db_xref="HGNC:4076"
/db_xref="HPRD:11747"
/db_xref="MIM:137140"
ORIGIN
1 mktklniynm qfllfvflvw dparlvlani qedeaknnit iftrildrll dgydnrlrpg
61 lgdsitevft niyvtsfgpv sdtdmeytid vffrqkwkde rlkfkgpmni lrlnnlmask
121 iwtpdtffhn gkksvahnmt mpnkllriqd dgtllytmrl tvqaecpmhl edfpmdahsc
181 plkfgsyayt tsevtyiwty nasdsvqvap dgsrlnqydl lgqsigketi ksstgeytvm
241 tahfhlkrki gyfviqtylp cimtvilsqv sfwlnresvp artvfgvttv ltmttlsisa
301 rnslpkvaya tamdwfiavc yafvfsalie fatvnyftkr gwawdgksvv ndkkkekasv
361 miqnnayava vanyapnlsk dpvlstisks attpepnkkp enkpaeakkt fnsvskidrm
421 srivfpvlfg tfnlvywaty lnrepvlgvs p
//