LOCUS       NM_198904               3813 bp    mRNA    linear   PRI 16-JUN-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit gamma2
            (GABRG2), transcript variant 1, mRNA.
ACCESSION   NM_198904
VERSION     NM_198904.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3813)
  AUTHORS   Sui,J., Zhan,L., Ji,S., Wu,W., Chen,Y., Yun,F., Liang,W., Wang,J.,
            Cao,M., Shen,D. and Zhang,Q.
  TITLE     Differential inflammation responses determine the variable
            phenotypes of epilepsy induced by GABRG2 mutations
  JOURNAL   CNS Neurosci Ther 30 (2), e14583 (2024)
   PUBMED   38357846
  REMARK    GeneRIF: Differential inflammation responses determine the variable
            phenotypes of epilepsy induced by GABRG2 mutations.
REFERENCE   2  (bases 1 to 3813)
  AUTHORS   Zhang,Q., Forster-Gibson,C., Bercovici,E., Bernardo,A., Ding,F.,
            Shen,W., Langer,K., Rex,T. and Kang,J.Q.
  TITLE     Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in
            mouse and human
  JOURNAL   Exp Neurol 369, 114537 (2023)
   PUBMED   37703949
  REMARK    GeneRIF: Epilepsy plus blindness in microdeletion of GABRA1 and
            GABRG2 in mouse and human.
REFERENCE   3  (bases 1 to 3813)
  AUTHORS   Ma,M., Zhao,J., Xie,D. and Chen,J.
  TITLE     Association between GABRG2 Gene Single Nucleotide Polymorphisms and
            Susceptibility to Ischemic Stroke in a Chinese Population
  JOURNAL   J Integr Neurosci 22 (6), 151 (2023)
   PUBMED   38176934
  REMARK    GeneRIF: Association between GABRG2 Gene Single Nucleotide
            Polymorphisms and Susceptibility to Ischemic Stroke in a Chinese
            Population.
REFERENCE   4  (bases 1 to 3813)
  AUTHORS   Hernandez,C.C., Shen,Y., Hu,N., Shen,W., Narayanan,V., Ramsey,K.,
            He,W., Zou,L. and Macdonald,R.L.
  TITLE     GABRG2 Variants Associated with Febrile Seizures
  JOURNAL   Biomolecules 13 (3), 414 (2023)
   PUBMED   36979350
  REMARK    GeneRIF: GABRG2 Variants Associated with Febrile Seizures.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3813)
  AUTHORS   Saleem,T., Maqbool,H., Sheikh,N., Tayyeb,A., Mukhtar,M. and
            Ashfaq,A.
  TITLE     GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized
            Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani
            Cohort
  JOURNAL   Biomed Res Int 2022, 3460792 (2022)
   PUBMED   36425336
  REMARK    GeneRIF: GABRG2 C588T Polymorphism Is Associated with Idiopathic
            Generalized Epilepsy but Not with Antiepileptic Drug Resistance in
            Pakistani Cohort.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3813)
  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  (bases 1 to 3813)
  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  (bases 1 to 3813)
  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  (bases 1 to 3813)
  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 (bases 1 to 3813)
  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 AC008611.6, AK315200.1 and
            AC091984.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 25, 2020 this sequence version replaced NM_198904.3.
            
            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, Jul 2008].
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon, compared to variant 3. It encodes isoform 1 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 Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC059389.1, CD013896.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000639213.2/ ENSP00000491909.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-236               AC008611.6         86644-86879
            237-1655            AK315200.1         20-1438
            1656-3813           AC091984.3         186976-189133       c
FEATURES             Location/Qualifiers
     source          1..3813
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q34"
     gene            1..3813
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     gamma2"
                     /db_xref="GeneID:2566"
                     /db_xref="HGNC:HGNC:4087"
                     /db_xref="MIM:137164"
     exon            1..334
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     CDS             228..1655
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; gamma-aminobutyric acid receptor subunit
                     gamma-2; GABA(A) receptor subunit gamma-2; GABA(A)
                     receptor, gamma 2; gamma-aminobutyric acid (GABA) A
                     receptor, gamma 2; gamma-aminobutyric acid type A receptor
                     gamma2 subunit; GABAAR subunit gamma-2"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit gamma-2
                     isoform 1 precursor"
                     /protein_id="NP_944494.1"
                     /db_xref="CCDS:CCDS4359.1"
                     /db_xref="GeneID:2566"
                     /db_xref="HGNC:HGNC:4087"
                     /db_xref="MIM:137164"
                     /translation="MSSPNIWSTGSSVYSTPVFSQKMTVWILLLLSLYPGFTSQKSDD
                     DYEDYASNKTWVLTPKVPEGDVTVILNNLLEGYDNKLRPDIGVKPTLIHTDMYVNSIG
                     PVNAINMEYTIDIFFAQTWYDRRLKFNSTIKVLRLNSNMVGKIWIPDTFFRNSKKADA
                     HWITTPNRMLRIWNDGRVLYTLRLTIDAECQLQLHNFPMDEHSCPLEFSSYGYPREEI
                     VYQWKRSSVEVGDTRSWRLYQFSFVGLRNTTEVVKTTSGDYVVMSVYFDLSRRMGYFT
                     IQTYIPCTLIVVLSWVSFWINKDAVPARTSLGITTVLTMTTLSTIARKSLPKVSYVTA
                     MDLFVSVCFIFVFSALVEYGTLHYFVSNRKPSKDKDKKKKNPLLRMFSFKAPTIDIRP
                     RSATIQMNNATHLQERDEEYGYECLDGKDCASFFCCFEDCRTGAWRHGRIHIRIAKMD
                     SYARIFFPTAFCLFNLVYWVSYLYL"
     exon            335..486
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            487..554
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            555..775
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            776..858
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            859..996
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1149
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..1355
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1356..1379
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..3813
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3789..3794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /note="hexamer: AATAAA"
     polyA_site      3813
                     /gene="GABRG2"
                     /gene_synonym="CAE2; DEE74; ECA2; EIEE74; FEB8; GEFSP3"
                     /note="major polyA site"
ORIGIN      
        1 gccagagtga cgctttgatg gtatctgcaa gcgtttttgc tgatcttatc tctgccccct
       61 gaatattaat tccctaatct ggtagcaatc catctcccca gtgaaggacc tactagaggc
      121 aggtgggggg agccaccatc agatcataag cataagaata atacaaaggg gagggattct
      181 tctgcaacca agaggcaaga ggcgagagaa ggaaaaaaaa aaaagcgatg agttcgccaa
      241 atatatggag cacaggaagc tcagtctact cgactcctgt attttcacag aaaatgacgg
      301 tgtggattct gctcctgctg tcgctctacc ctggcttcac tagccagaaa tctgatgatg
      361 actatgaaga ttatgcttct aacaaaacat gggtcttgac tccaaaagtt cctgagggtg
      421 atgtcactgt catcttaaac aacctgctgg aaggatatga caataaactt cggcctgata
      481 taggagtgaa gccaacgtta attcacacag acatgtatgt gaatagcatt ggtccagtga
      541 acgctatcaa tatggaatac actattgata tattttttgc gcaaacgtgg tatgacagac
      601 gtttgaaatt taacagcacc attaaagtcc tccgattgaa cagcaacatg gtggggaaaa
      661 tctggattcc agacactttc ttcagaaatt ccaaaaaagc tgatgcacac tggatcacca
      721 cccccaacag gatgctgaga atttggaatg atggtcgagt gctctacacc ctaaggttga
      781 caattgatgc tgagtgccaa ttacaattgc acaactttcc aatggatgaa cactcctgcc
      841 ccttggagtt ctccagttat ggctatccac gtgaagaaat tgtttatcaa tggaagcgaa
      901 gttctgttga agtgggcgac acaagatcct ggaggcttta tcaattctca tttgttggtc
      961 taagaaatac caccgaagta gtgaagacaa cttccggaga ttatgtggtc atgtctgtct
     1021 actttgatct gagcagaaga atgggatact ttaccatcca gacctatatc ccctgcacac
     1081 tcattgtcgt cctatcctgg gtgtctttct ggatcaataa ggatgctgtt ccagccagaa
     1141 catctttagg tatcaccact gtcctgacaa tgaccaccct cagcaccatt gcccggaaat
     1201 cgctccccaa ggtctcctat gtcacagcga tggatctctt tgtatctgtt tgtttcatct
     1261 ttgtcttctc tgctctggtg gagtatggca ccttgcatta ttttgtcagc aaccggaaac
     1321 caagcaagga caaagataaa aagaagaaaa accctcttct tcggatgttt tccttcaagg
     1381 cccctaccat tgatatccgc ccaagatcag caaccattca aatgaataat gctacacacc
     1441 ttcaagagag agatgaagag tacggctatg agtgtctgga cggcaaggac tgtgccagtt
     1501 ttttctgctg ttttgaagat tgtcgaacag gagcttggag acatgggagg atacatatcc
     1561 gcattgccaa aatggactcc tatgctcgga tcttcttccc cactgccttc tgcctgttta
     1621 atctggtcta ttgggtctcc tacctctacc tgtgaggagg tatgggtttt actgatatgg
     1681 ttcttattca ctgagtctca tggagagatg tctgttctaa gtccacttaa ataatcctct
     1741 atgtggttga taatgatctg aatctgtttc tatgtccaaa cctggtaaat tttataatgt
     1801 catattgttt gtgcccagcc ctcctttggt tagtgtactt tgaacttcga tgtttgctgt
     1861 gtttcaaacc tgcaaggcaa agtaaaatta gagcaagaac attcaaacca aataagatat
     1921 ttttcagcta cagcaaataa aacagtgaaa gccctgacta tttacagtag tggtatcctt
     1981 actagattca taatgcaatt agatagaaaa ggtccaaaac tgtaccctat gttcactccg
     2041 ggtcaagttg tgataaattt gatcccaata gaatacctcc ctcatttaag aaaaatcata
     2101 actcacttta aatatgaaag cctagtccag aaatctatta cacctttatc tcaagatagg
     2161 aagaaaattt cctccacatt catgtacaat gatgtaaata tttcaataac ttagaatgct
     2221 tcaagtttag tgcatgcatc tctttagatc caaaataaat ggactgaagt tatcatccta
     2281 ttgtctttta ttttgtgtcc ttgggctata aaagattcct gaatgtaatt ataaggattt
     2341 gggtttggaa atggagggag gaattttcat tgccttctcc ctcatgcatg aagattcgaa
     2401 cagcttattt tttccttgta tgacatatta caacacttta agtaaaatat agactggata
     2461 atcaacattt gccacctcta aatatgccca atttcataac tagagtataa agtaattgta
     2521 tgtgcttgcc gctatttttt tcttcctttt aggatgatag atcataacag aacttattct
     2581 ccatctcaag atctgcttct agtgattgtg agtgccttgt gggcagaatc cttgtcattt
     2641 cctctttggg tctgtagcac cttgcatagt gcctggcata tagttggtgc tcaataaata
     2701 tggtttgaag tgaattgccc tcacatgctt ctggcaaatc tctgtgctgg cctgaaacca
     2761 gtgactcatc ttctcacata ggtgttgtca agtgatattt gattttgtaa aaataaccag
     2821 taggatccaa agaactttag ctatttatgt tcatcttcaa aaaattattt taggcaaagt
     2881 ccatactcct tttaaaacaa tatttatgtc ctatgtttgt gtatagacat gactctacta
     2941 gggcataatt agagtttgtg tattattttt ccaggtttgg ggatgagtca gtccttgccc
     3001 atccacaatt ttgtttgtga acttataaca ggaataagca aaattcatac ctgactagtg
     3061 ttcagaatgt agcattctgt gcgaaaaagt attgaagatt agcttttaaa aactgaaaaa
     3121 aaaaaatgaa tgactcacat agaggttgag ccaatgactg tggcctcatt agattacatt
     3181 gtagttaaac aaagcaattt ctccagactt aaaacatgat gagttgagct ctatcttcat
     3241 gtactcatcc tgaatcctta tttttctaaa atagcaccct ttgttaatta tttttatgga
     3301 aattattact ctgtcataat taaatcatag ctagtataac tttacagata acctaaaaag
     3361 aatagaaaag aagagagagt ggctttgtca gtataaaacc atgtaaagtc atcatcaagt
     3421 catctggatg aatcttgaaa cacatttagc tgccagtttt acaaaccttt aatatatcag
     3481 tgctccagta tataacctca aacaaatgta aatagaacga attattttct tgttttgaat
     3541 tgtcaatata ttaaatgttg actctttggg agagttgttg gcaagtttca atggtgagaa
     3601 acattattgt caacttgaaa tgtgttctgt aatggggaca ctacaaaaag ctagctttcc
     3661 aatgtgtgca tagtattggc aatatgaata tatattatat ataatctaat acttattata
     3721 agctgctccc tgtctatgta tttggaaacc ttttcacaaa gggaattgcc taacatgtgg
     3781 acttttacaa taaaaatgct gcattctaat cca
//
