LOCUS NP_000807 467 aa linear PRI 14-SEP-2008
DEFINITION gamma-aminobutyric acid A receptor, gamma 2 isoform 2 precursor
[Homo sapiens].
ACCESSION NP_000807
VERSION NP_000807.2 GI:38788135
DBSOURCE REFSEQ: accession NM_000816.3
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 467)
AUTHORS Ohmori,I., Ouchida,M., Miki,T., Mimaki,N., Kiyonaka,S., Nishiki,T.,
Tomizawa,K., Mori,Y. and Matsui,H.
TITLE A CACNB4 mutation shows that altered Ca(v)2.1 function may be a
genetic modifier of severe myoclonic epilepsy in infancy
JOURNAL Neurobiol. Dis. (2008) In press
PUBMED 18755274
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 2 (residues 1 to 467)
AUTHORS Yang,L. and Sonner,J.M.
TITLE The anesthetic-like effects of diverse compounds on wild-type and
mutant gamma-aminobutyric acid type A and glycine receptors
JOURNAL Anesth. Analg. 106 (3), 838-845 (2008)
PUBMED 18292428
REMARK GeneRIF: Using wild type/mutated receptor subunits to identify
compounds with anesthetic effect.
REFERENCE 3 (residues 1 to 467)
AUTHORS Waldvogel,H.J., Baer,K., Gai,W.P., Gilbert,R.T., Rees,M.I.,
Mohler,H. and Faull,R.L.
TITLE Differential localization of GABAA receptor subunits within the
substantia nigra of the human brain: an immunohistochemical study
JOURNAL J. Comp. Neurol. 506 (6), 912-929 (2008)
PUBMED 18085588
REMARK GeneRIF: In the SNr GABA(A) receptors contain alpha(1), alpha(3),
beta(2,3), and gamma(2) subunits and are localized in a weblike
network over the cell soma, dendrites, and spines of SNr
parvalbumin-positive nonpigmented neurons.
REFERENCE 4 (residues 1 to 467)
AUTHORS Trudell,J.R., Yue,M.E., Bertaccini,E.J., Jenkins,A. and
Harrison,N.L.
TITLE Molecular modeling and mutagenesis reveals a tetradentate binding
site for Zn2+ in GABA(A) alphabeta receptors and provides a
structural basis for the modulating effect of the gamma subunit
JOURNAL J Chem Inf Model 48 (2), 344-349 (2008)
PUBMED 18197653
REMARK GeneRIF: built homology models of the ion pores of alpha1beta2 and
alpha1beta2gamma2 GABA(A)-R using coordinates of the nicotinic
acetylcholine receptor as a template to determine details about the
zinc binding site
REFERENCE 5 (residues 1 to 467)
AUTHORS Mrabet,H., Belhedi,N., Bouchlaka,S., El Gaaied,A. and Mrabet,A.
TITLE GEFS+ is not related to the most common mutations of SCN1B, SCN1A
and GABRG2 in two Tunisian families
JOURNAL Neurol. Sci. 28 (6), 311-314 (2007)
PUBMED 18175077
REMARK GeneRIF: Febrile Seizure is not related to the most common
mutations of GABRG2 in two Tunisian families
REFERENCE 6 (residues 1 to 467)
AUTHORS Kostrzewa,M., Kohler,A., Eppelt,K., Hellam,L., Fairweather,N.D.,
Levy,E.R., Monaco,A.P. and Muller,U.
TITLE Assignment of genes encoding GABAA receptor subunits alpha 1, alpha
6, beta 2, and gamma 2 to a YAC contig of 5q33
JOURNAL Eur. J. Hum. Genet. 4 (4), 199-204 (1996)
PUBMED 8875185
REFERENCE 7 (residues 1 to 467)
AUTHORS Russek,S.J. and Farb,D.H.
TITLE Mapping of the beta 2 subunit gene (GABRB2) to microdissected human
chromosome 5q34-q35 defines a gene cluster for the most abundant
GABAA receptor isoform
JOURNAL Genomics 23 (3), 528-533 (1994)
PUBMED 7851879
REFERENCE 8 (residues 1 to 467)
AUTHORS Moss,S.J., Doherty,C.A. and Huganir,R.L.
TITLE Identification of the cAMP-dependent protein kinase and protein
kinase C phosphorylation sites within the major intracellular
domains of the beta 1, gamma 2S, and gamma 2L subunits of the
gamma-aminobutyric acid type A receptor
JOURNAL J. Biol. Chem. 267 (20), 14470-14476 (1992)
PUBMED 1321150
REFERENCE 9 (residues 1 to 467)
AUTHORS Wilcox,A.S., Warrington,J.A., Gardiner,K., Berger,R., Whiting,P.,
Altherr,M.R., Wasmuth,J.J., Patterson,D. and Sikela,J.M.
TITLE Human chromosomal localization of genes encoding the gamma 1 and
gamma 2 subunits of the gamma-aminobutyric acid receptor indicates
that members of this gene family are often clustered in the genome
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (13), 5857-5861 (1992)
PUBMED 1321425
REFERENCE 10 (residues 1 to 467)
AUTHORS Pritchett,D.B., Sontheimer,H., Shivers,B.D., Ymer,S.,
Kettenmann,H., Schofield,P.R. and Seeburg,P.H.
TITLE Importance of a novel GABAA receptor subunit for benzodiazepine
pharmacology
JOURNAL Nature 338 (6216), 582-585 (1989)
PUBMED 2538761
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA226729.1, BC074795.2,
BC069348.1 and AC091984.3.
On Dec 5, 2003 this sequence version replaced gi:4557611.
Summary: This gene encodes a gamma-aminobutyric acid (GABA)
receptor. GABA is the major inhibitory neurotransmitter in the
mammlian brain, where it acts at GABA-A receptors, which are
ligand-gated chloride channels. GABA-A receptors are pentameric,
consisting of proteins from several subunit classes: alpha, beta,
gamma, delta and rho. Mutations in this gene have been associated
with epilepsy and febrile seizures. Multiple transcript variants
encoding different isoforms have been identified for this gene.
[provided by RefSeq].
Transcript Variant: This variant (2) lacks two alternate in-frame
exons, compared to variant 3. It encodes isoform 2 which is shorter
than isoform 3.
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..467
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="5"
/map="5q31.1-q33.1"
Protein 1..467
/product="gamma-aminobutyric acid A receptor, gamma 2
isoform 2 precursor"
sig_peptide 1..39
/calculated_mol_wt=4327
mat_peptide 40..467
/product="gamma-aminobutyric acid A receptor, gamma 2
isoform 2"
/calculated_mol_wt=49854
CDS 1..467
/gene="GABRG2"
/gene_synonym="CAE2"
/gene_synonym="ECA2"
/gene_synonym="GEFSP3"
/coded_by="NM_000816.3:359..1762"
/note="isoform 2 precursor is encoded by transcript
variant 2"
/db_xref="CCDS:CCDS4358.1"
/db_xref="GeneID:2566"
/db_xref="HGNC:4087"
/db_xref="HPRD:00663"
/db_xref="MIM:137164"
ORIGIN
1 msspniwstg ssvystpvfs qkmtvwilll lslypgftsq ksdddyedya snktwvltpk
61 vpegdvtvil nnllegydnk lrpdigvkpt lihtdmyvns igpvnainme ytidiffaqt
121 wydrrlkfns tikvlrlnsn mvgkiwipdt ffrnskkada hwittpnrml riwndgrvly
181 tlrltidaec qlqlhnfpmd ehscplefss ygypreeivy qwkrssvevg dtrswrlyqf
241 sfvglrntte vvkttsgdyv vmsvyfdlsr rmgyftiqty ipctlivvls wvsfwinkda
301 vpartslgit tvltmttlst iarkslpkvs yvtamdlfvs vcfifvfsal veygtlhyfv
361 snrkpskdkd kkkknpapti dirprsatiq mnnathlqer deeygyecld gkdcasffcc
421 fedcrtgawr hgrihiriak mdsyariffp tafclfnlvy wvsylyl
//