|
|
|
|
|
|
[1]
|
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Brain;
DOI=10.1038/338582a0; PubMed=2538761 [NCBI, ExPASy, EBI, Israel, Japan]
Pritchett D.B.,
Sontheimer H.,
Shivers B.D.,
Ymer S.,
Kettenmann H.,
Schofield P.R.,
Seeburg P.H.;
"Importance of a novel GABAA receptor subunit for benzodiazepine pharmacology.";
Nature 338:582-585(1989).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=11328646 [NCBI, ExPASy, EBI, Israel, Japan]
Jiang S.,
Yu J.,
Wang J.,
Tan Z.,
Xue H.,
Feng G.,
He L.,
Yang H.;
"Complete genomic sequence of 195 Kb of human DNA containing the gene GABRG2.";
DNA Seq. 11:373-382(2000).
|
[3]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[4]
|
INTERACTION WITH GABARAP.
DOI=10.1038/16264; PubMed=9892355 [NCBI, ExPASy, EBI, Israel, Japan]
Wang H.,
Bedford F.K.,
Brandon N.J.,
Moss S.J.,
Olsen R.W.;
"GABA(A)-receptor-associated protein links GABA(A) receptors and the cytoskeleton.";
Nature 397:69-72(1999).
|
[5]
|
VARIANT GEFS+3 MET-328.
DOI=10.1038/88254; PubMed=11326274 [NCBI, ExPASy, EBI, Israel, Japan]
Baulac S.,
Huberfeld G.,
Gourfinkel-An I.,
Mitropoulou G.,
Beranger A.,
Prud'homme J.-F.,
Baulac M.,
Brice A.,
Bruzzone R.,
LeGuern E.;
"First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.";
Nat. Genet. 28:46-48(2001).
|
[6]
|
VARIANT ECA2/FEB8 GLN-82.
DOI=10.1038/88259; PubMed=11326275 [NCBI, ExPASy, EBI, Israel, Japan]
Wallace R.H.,
Marini C.,
Petrou S.,
Harkin L.A.,
Bowser D.N.,
Panchal R.G.,
Williams D.A.,
Sutherland G.R.,
Mulley J.C.,
Scheffer I.E.,
Berkovic S.F.;
"Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.";
Nat. Genet. 28:49-52(2001).
|
[7]
|
VARIANT FEB8 GLY-177.
DOI=10.1212/01.wnl.0000230145.73496.a2; PubMed=16924025 [NCBI, ExPASy, EBI, Israel, Japan]
Audenaert D.,
Schwartz E.,
Claeys K.G.,
Claes L.,
Deprez L.,
Suls A.,
Van Dyck T.,
Lagae L.,
Van Broeckhoven C.,
Macdonald R.L.,
De Jonghe P.;
"A novel GABRG2 mutation associated with febrile seizures.";
Neurology 67:687-690(2006).
|
|
|
|
- FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.
- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. Interacts with GABARAP.
- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
- PTM: Palmitoylated by ZDHHC3/GODZ; which may affect presynaptic clustering and/or cell surface stability (By similarity).
- DISEASE: Defects in GABRG2 are the cause of childhood absence epilepsy type 2 (ECA2) [MIM:607681]. ECA2 is a subtype of idiopathic generalized epilepsy (IGE) characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. During adolescence, tonic-clonic and myoclonic seizures develop. Some individuals manifest ECA2 occurring in combination with febrile convulsions [MIM:611277].
- DISEASE: Defects in GABRG2 are the cause of familial febrile convulsions type 8 (FEB8) [MIM:611277]. A febrile convulsion is defined as a seizure event in infancy or childhood, usually occurring between 6 months and 6 years of age, associated with fever but without any evidence of intracranial infection or defined pathologic or traumatic cause. Febrile convulsions affect 5-12% of infants and children up to 6 years of age. There is epidemiological evidence that febrile seizures are associated with subsequent afebrile and unprovoked seizures in 2% to 7% of patients.
- DISEASE: Defects in GABRG2 are the cause of generalized epilepsy with febrile seizures plus type 3 (GEFS+3) [MIM:604233]. Generalized epilepsy with febrile seizures-plus refers to a rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
- DISEASE: Defects in GABRG2 are a cause of severe myoclonic epilepsy in infancy (SMEI) [MIM:607208]; also called Dravet syndrome. SMEI is a rare disorder characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development delay is observed around the second year of life. SMEI is considered to be the most severe phenotype within the spectrum of generalized epilepsies with febrile seizures-plus.
- MISCELLANEOUS: This subunit carries the benzodiazepine binding site.
- SIMILARITY: Belongs to the ligand-gated ionic channel (TC 1.A.9) family [view classification].
- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56 of March 2005; URL="http://www.expasy.org/spotlight/back_issues/sptlt056.shtml";.
|
|
|
|
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms.
Distributed under the Creative Commons Attribution-NoDerivs License.
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
| Length: 467 AA [This is the length of the unprocessed precursor] |
Molecular weight: 54162 Da [This is the MW of the unprocessed precursor] |
CRC64: 7450DFE1157C9224 [This is a checksum on the sequence] |
|
10 20 30 40 50 60
MSSPNIWSTG SSVYSTPVFS QKMTVWILLL LSLYPGFTSQ KSDDDYEDYA SNKTWVLTPK
70 80 90 100 110 120
VPEGDVTVIL NNLLEGYDNK LRPDIGVKPT LIHTDMYVNS IGPVNAINME YTIDIFFAQT
130 140 150 160 170 180
WYDRRLKFNS TIKVLRLNSN MVGKIWIPDT FFRNSKKADA HWITTPNRML RIWNDGRVLY
190 200 210 220 230 240
TLRLTIDAEC QLQLHNFPMD EHSCPLEFSS YGYPREEIVY QWKRSSVEVG DTRSWRLYQF
250 260 270 280 290 300
SFVGLRNTTE VVKTTSGDYV VMSVYFDLSR RMGYFTIQTY IPCTLIVVLS WVSFWINKDA
310 320 330 340 350 360
VPARTSLGIT TVLTMTTLST IARKSLPKVS YVTAMDLFVS VCFIFVFSAL VEYGTLHYFV
370 380 390 400 410 420
SNRKPSKDKD KKKKNPAPTI DIRPRSATIQ MNNATHLQER DEEYGYECLD GKDCASFFCC
430 440 450 460
FEDCRTGAWR HGRIHIRIAK MDSYARIFFP TAFCLFNLVY WVSYLYL
|
P18507 in FASTA format |
|
ExPASy Home page
SIB Switzerland
