LOCUS       NM_002043               4738 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens gamma-aminobutyric acid type A receptor subunit rho2
            (GABRR2), mRNA.
ACCESSION   NM_002043
VERSION     NM_002043.5
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 4738)
  AUTHORS   Van Assche,E., Moons,T., Cinar,O., Viechtbauer,W., Oldehinkel,A.J.,
            Van Leeuwen,K., Verschueren,K., Colpin,H., Lambrechts,D., Van den
            Noortgate,W., Goossens,L., Claes,S. and van Winkel,R.
  TITLE     Gene-based interaction analysis shows GABAergic genes interacting
            with parenting in adolescent depressive symptoms
  JOURNAL   J Child Psychol Psychiatry 58 (12), 1301-1309 (2017)
   PUBMED   28660714
  REMARK    GeneRIF: GABAergic genes interacting with parenting in adolescent
            depressive symptoms: GABRR2 X perceived parental support
            interaction.
REFERENCE   2  (bases 1 to 4738)
  AUTHORS   Ma,Z., Niu,B., Shi,Z., Li,J., Wang,J., Zhang,F., Gao,X. and
            Zhang,K.
  TITLE     Genetic Polymorphism of GABRR2 Modulates Individuals' General
            Cognitive Ability in Healthy Chinese Han People
  JOURNAL   Cell Mol Neurobiol 37 (1), 93-100 (2017)
   PUBMED   26922432
  REMARK    GeneRIF: The genetic variant of GABRR2 gene contributes to the
            difference of individuals' general cognitive ability in a Chinese
            Han population.
REFERENCE   3  (bases 1 to 4738)
  AUTHORS   Tadavarty,R., Hwang,J., Rajput,P.S., Soja,P.J., Kumar,U. and
            Sastry,B.R.
  TITLE     Are presynaptic GABA-Crho2 receptors involved in anti-nociception?
  JOURNAL   Neurosci Lett 606, 145-150 (2015)
   PUBMED   26327143
REFERENCE   4  (bases 1 to 4738)
  AUTHORS   Ota,V.K., Noto,C., Gadelha,A., Santoro,M.L., Ortiz,B.B.,
            Andrade,E.H., Tasso,B.C., Spindola,L.M., Silva,P.N., Abilio,V.C.,
            Smith Mde,A., Sato,J.R., Brietzke,E., Cordeiro,Q., Bressan,R.A. and
            Belangero,S.I.
  TITLE     Evaluation of neurotransmitter receptor gene expression identifies
            GABA receptor changes: a follow-up study in antipsychotic-naive
            patients with first-episode psychosis
  JOURNAL   J Psychiatr Res 56, 130-136 (2014)
   PUBMED   24935901
REFERENCE   5  (bases 1 to 4738)
  AUTHORS   Xuei,X., Flury-Wetherill,L., Dick,D., Goate,A., Tischfield,J.,
            Nurnberger,J. Jr., Schuckit,M., Kramer,J., Kuperman,S.,
            Hesselbrock,V., Porjesz,B., Foroud,T. and Edenberg,H.J.
  TITLE     GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and
            rho2, are associated with alcohol dependence
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 153B (2), 418-427 (2010)
   PUBMED   19536785
  REMARK    GeneRIF: GABRR1 and GABRR2 encode the GABA-A receptor subunits rho1
            and rho2 and are associated with alcohol dependence
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 4738)
  AUTHORS   Bailey,M.E., Albrecht,B.E., Johnson,K.J. and Darlison,M.G.
  TITLE     Genetic linkage and radiation hybrid mapping of the three human
            GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 307-312 (1999)
   PUBMED   10542332
REFERENCE   7  (bases 1 to 4738)
  AUTHORS   Kusama,T., Hatama,K., Sakurai,M., Kizawa,Y., Uhl,G.R. and
            Murakami,H.
  TITLE     Consensus phosphorylation sites of human GABA(c)/GABArho receptors
            are not critical for inhibition by protein kinase C activation
  JOURNAL   Neurosci Lett 255 (1), 17-20 (1998)
   PUBMED   9839716
REFERENCE   8  (bases 1 to 4738)
  AUTHORS   Ruiz,A., Borrego,S., Marcos,I. and Antinolo,G.
  TITLE     A major locus for autosomal recessive retinitis pigmentosa on 6q,
            determined by homozygosity mapping of chromosomal regions that
            contain gamma-aminobutyric acid-receptor clusters
  JOURNAL   Am J Hum Genet 62 (6), 1452-1459 (1998)
   PUBMED   9585594
REFERENCE   9  (bases 1 to 4738)
  AUTHORS   Hackam,A.S., Wang,T.L., Guggino,W.B. and Cutting,G.R.
  TITLE     The N-terminal domain of human GABA receptor rho1 subunits contains
            signals for homooligomeric and heterooligomeric interaction
  JOURNAL   J Biol Chem 272 (21), 13750-13757 (1997)
   PUBMED   9153229
REFERENCE   10 (bases 1 to 4738)
  AUTHORS   Cutting,G.R., Curristin,S., Zoghbi,H., O'Hara,B., Seldin,M.F. and
            Uhl,G.R.
  TITLE     Identification of a putative gamma-aminobutyric acid (GABA)
            receptor subunit rho2 cDNA and colocalization of the genes encoding
            rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and
            mouse chromosome 4
  JOURNAL   Genomics 12 (4), 801-806 (1992)
   PUBMED   1315307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX490975.1, BC130354.1,
            AL121833.10 and AW152520.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002043.4.
            
            Summary: Gamma-aminobutyric acid (GABA) is the major inhibitory
            neurotransmitter in the mammalian brain where it acts at GABA
            receptors, which are ligand-gated chloride channels. The protein
            encoded by this gene is a member of the rho subunit family and is a
            component of the GABA type A receptor complex. This gene exists on
            chromosome 6q next to the gene encoding the rho 1 subunit of the
            GABA type A receptor, in a region thought to be associated with
            susceptibility for psychiatric disorders and epilepsy.
            Polymorphisms in this gene may also be associated with alcohol
            dependence, and general cognitive ability. [provided by RefSeq, Apr
            2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: The coding region has been updated to shorten the
            protein N-terminus to one that is more supported by the available
            transcript and conservation data. The updated protein contains a
            predicted N-terminal signal peptide, which is consistent with its
            biological function as a subunit of the GABA receptor complex.
            
            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 :: BC130352.1, M86868.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: downstream AUG is associated
                                                with N-terminal localization
                                                signal
            MANE Ensembl match               :: ENST00000402938.4/
                                                ENSP00000386029.4
            RefSeq Select criteria           :: based on conservation,
                                                expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                BX490975.1         9-89
            82-1637             BC130354.1         1-1556
            1638-4732           AL121833.10        21434-24528         c
            4733-4738           AW152520.1         17-22               c
FEATURES             Location/Qualifiers
     source          1..4738
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q15"
     gene            1..4738
                     /gene="GABRR2"
                     /note="gamma-aminobutyric acid type A receptor subunit
                     rho2"
                     /db_xref="GeneID:2570"
                     /db_xref="HGNC:HGNC:4091"
                     /db_xref="MIM:137162"
     exon            1..247
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             135..1532
                     /gene="GABRR2"
                     /note="GABA-C receptor, rho-2 subunit; GABAAR subunit
                     rho-2; gamma-aminobutyric acid (GABA) A receptor, rho 2;
                     gamma-aminobutyric acid type A receptor rho2 subunit"
                     /codon_start=1
                     /product="gamma-aminobutyric acid receptor subunit rho-2
                     precursor"
                     /protein_id="NP_002034.3"
                     /db_xref="CCDS:CCDS5020.3"
                     /db_xref="GeneID:2570"
                     /db_xref="HGNC:HGNC:4091"
                     /db_xref="MIM:137162"
                     /translation="MPYFTRLILFLFCLMVLVESRKPKRKRWTGQVEMPKPSHLYKKN
                     LDVTKIRKGKPQQLLRVDEHDFSMRPAFGGPAIPVGVDVQVESLDSISEVDMDFTMTL
                     YLRHYWKDERLAFSSASNKSMTFDGRLVKKIWVPDVFFVHSKRSFTHDTTTDNIMLRV
                     FPDGHVLYSMRITVTAMCNMDFSHFPLDSQTCSLELESYAYTDEDLMLYWKNGDESLK
                     TDEKISLSQFLIQKFHTTSRLAFYSSTGWYNRLYINFTLRRHIFFFLLQTYFPATLMV
                     MLSWVSFWIDRRAVPARVSLGITTVLTMTTIITGVNASMPRVSYVKAVDIYLWVSFVF
                     VFLSVLEYAAVNYLTTVQERKERKLREKFPCMCGMLHSKTMMLDGSYSESEANSLAGY
                     PRSHILTEEERQDKIVVHLGLSGEANAARKKGLLKGQTGFRIFQNTHAIDKYSRLIFP
                     ASYIFFNLIYWSVFS"
     exon            248..354
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            355..422
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            423..646
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            647..729
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            730..870
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            871..1023
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1220
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..4738
                     /gene="GABRR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4716..4721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GABRR2"
                     /note="hexamer: AAGAAA"
     polyA_site      4738
                     /gene="GABRR2"
                     /note="major polyA site"
ORIGIN      
        1 ggccagcctt gccctcacag cccctcagag cagcccgtca ggaggcagca gatggatcaa
       61 tggtcaagcc aggggggatt tgctctgcca caggctactg gaaagcagct ttttgcctca
      121 cagatgtcca caaaatgcct tattttacaa gactcatttt gttcttgttt tgcttgatgg
      181 ttctcgtgga gagcagaaaa cccaagagga agcgatggac agggcaggtg gaaatgccca
      241 agccaagtca cttatataag aagaaccttg atgtgaccaa gatccggaag ggaaagcctc
      301 agcagcttct cagagtggac gagcacgact tcagcatgag acccgccttc ggaggccctg
      361 ccatcccggt gggcgtggac gtacaggtgg agagcctgga cagcatctcc gaggtggaca
      421 tggacttcac tatgaccctg tacctgcggc attactggaa ggatgagagg ctagctttct
      481 ccagcgccag caacaagagc atgaccttcg atggccggct ggtgaagaag atctgggtcc
      541 ctgatgtctt ctttgttcac tccaaaagat cgttcactca tgacaccacc actgacaaca
      601 tcatgctgag ggtgttccca gatggacacg tgctgtacag catgaggatt acggtcactg
      661 ccatgtgcaa catggacttc agccactttc ccctggactc ccagacctgt tctttggagc
      721 tggagagcta tgcctataca gatgaagatc taatgctgta ctggaagaat ggggatgaat
      781 ccctaaaaac agatgagaag atctccttgt ctcagtttct gattcagaaa tttcacacaa
      841 cttccaggct ggccttctac agcagcactg gctggtacaa ccgtctgtac attaacttca
      901 cgttgcgtcg ccacatcttc ttcttcttgc tccaaacata tttccctgcc actctgatgg
      961 tcatgctgtc ctgggtgtcc ttctggatcg accgcagagc tgtgcctgcc agagtttcac
     1021 tgggtatcac gacggtgctg accatgacca ccatcatcac gggcgtgaat gcctccatgc
     1081 cgcgcgtctc ctacgtcaag gccgtggaca tctacctctg ggtcagcttt gtgttcgtgt
     1141 tcctctcggt gctggagtat gcggctgtca actacctgac caccgtgcag gagcgcaagg
     1201 aacggaagct gcgggagaag ttcccgtgca tgtgtggaat gcttcattca aaaaccatga
     1261 tgctggatgg aagctacagt gagtctgagg ccaacagcct ggctgggtac cccagaagcc
     1321 atatcctgac agaagaagaa aggcaagaca aaatagtggt ccacctgggc ctgagtggtg
     1381 aagccaacgc tgccagaaag aaggggcttc tgaagggcca gacgggtttt cgtatcttcc
     1441 agaataccca tgccattgac aaatactcta ggttgatatt ccctgcctcc tacatatttt
     1501 tcaacttaat ttattggtca gtgttttcct aggggctcca aggctgttcc tagaagaggg
     1561 catagacatc gagggggcct ggccagtcat tgacagacgg acttgttgac cacacgcccc
     1621 tcaccaaaca atgcagcagc tactggacca ccctgagcag cactcatctc tcagagaagc
     1681 ccaggagcct tccagctgcc ctgaccccag accccgtggg gctgctccat gttcatgctg
     1741 tctcgcgtca cacttcacat ctctctggga ccttctgttc ttgtgtgtga actaattcac
     1801 aagaactccc ctcctataaa caaggattca aatgcctcct agacattctt agaccctcag
     1861 attgcctagg agtcagttgt ggagggaaaa ggaaaaactg aagtacaagc ttaggggcat
     1921 tctggatagg agataggaaa ttaagaacaa aaaacaccct gtaaacccat tgaacttgat
     1981 taagtgccta cctagaaggg aaaagagctg agatcccaga caggaaatga tttggcctgt
     2041 gggagtatgg caacccacag gattctgcaa tattagagga gattattcat ttatccatcc
     2101 attcaaccat tcattaaata ttgaggtccc actctgtgcc aggtacggta gaaatgagaa
     2161 aatagtctct ttccttagag atcttctcta agttgtgctc attctacata tggcatgatg
     2221 tacttctgct ctttcccctc cttcaacccc gcttacccca cagacccatt ctgtttgctg
     2281 ttgcttttac tcttaggcat ataaggcagg gtccaggaga ggccaggtcc agaactttca
     2341 actatcctcc tccagtgaag ttacacagat agcactaatt ttgcccagca atgacatgta
     2401 gcaatgtgca tggagtattg ccagccagag aaacttaccc aggctcacca cggtgtacag
     2461 tttttttatt ggggtcggtc atggatttat agctgattgc ccacatggct gactttagtc
     2521 ttttgcccct ccagaggtta agctggtacc ttgaggtcca gggcacctat cataaatcac
     2581 attgttggca tagactatct ggtgtggccc aaggccccag tagacaaaga cccttctatc
     2641 tcacaggaca ttccaagggc atagaggttg cttcctagta aaggttagtc ctttactaca
     2701 cagcaactct tgtcaattcc ctattgttaa tgttaattgc ggtgttacta ttatatattc
     2761 aggcaataaa cattttaaag tatctctgca ctaggtacat tggggtccaa attaagaata
     2821 agagtagtcg aagctctcag agaaggaact agtaaaggaa ataccacaca aatatctata
     2881 atataagatt aagagtgttt agtgcctcag taatagttca gtgtgagatg ggaattccaa
     2941 gggaggaaaa acagtcccac cagggagaca gacctcatgg agaaagcagc cctgagatgc
     3001 cccttgaagg tcaggatttt aagaagaaga aatggagcag aatgcatcct agatctgggc
     3061 tgtctcatat ggtagccact agccacatgt ctatttaaat ttaaattagt aaaaattaaa
     3121 aatattagcc aggtgtggtg gtgtgtgcct ggggttctag ctactcagga ggctgaggcg
     3181 ggaggattgc ttgagcccag gaattccagg ctgccgtgag ctgtgatcaa gccactgcag
     3241 tccagcctga gtgacagagc gagaccctat ctctaaaata ataattatta ttatttaaat
     3301 tagttgaagt taaataaaat tgaaaactca gttccttggt tacaccatcc acactcaagt
     3361 gggcttagta agcacagttg ctagtagcta ctgcactggg ctgggcagcc taaagaccag
     3421 gaagctctac cagccaagag accagcttga gcggacgcat ggggagaatg ggaaggtttg
     3481 ccattgcaga gaacagggtt tgtgggcaag tcattcattt tggcaggatc ctaggctgtg
     3541 ataagaggag gtgagcgact agctttttcc acaacactag ggatcaaggc aggtccccac
     3601 catgccggtg cttatgagga cagcttcccc actatggagt tgctggaccc aagactacta
     3661 gatttcccag tctcacagac caatgaagaa caaaaatgca taaatatggg taattgggtg
     3721 gtacagggca tctggacttg tttagaaacc tttttttctt ttctgagaca gagtttcact
     3781 cttgttgctc aggctggagt gcaatggctt gatcttggct caccacaacc tctgcctccc
     3841 gggttcaagc aattctcctg cctcagccct ggagtagctg ggattacagg catgcgccac
     3901 catgcctggc taacttttgt attttttagt agagatgggg tttctccatg ttagtcagcc
     3961 tggtcttgaa ctcctgacct caggtgatcc gcctgcctca gcctcccaaa gtgctgtgat
     4021 tacaggcgtg agccaccaca cccggccaga aaccttttat ctatagagac tctcccaggc
     4081 cacagtgctg ctcgaagaat gataattcta ttgtcattaa atatatcata ttgctttgct
     4141 tgtaagtctt atttaattcc aacccttctc tgcttctgac tgcattgttt tcatgcatta
     4201 tggctcatat aacatagttg cctgttcaca aattaaaaca aatatttatt tttgctagct
     4261 tctatgttaa actggagtta attctatagc agacatattt agaatcataa acagtgtttt
     4321 atcatgcagg gccatgatac aatgacacca ttgtatttag cattgcctta ttacagtata
     4381 ctagtctgac actacttgag aaaagtagga aatttaaaga ggtaaagtgg agacaacatt
     4441 ggtaggagta gaaaacagga actaaggaaa tagtgagaac atgggatgat tcaccctgga
     4501 ggcaggaaga cagagaagca aacacaattg ttatcaggaa tgcatgaatg atactttact
     4561 tcactgaatc taagacatgg tgaaatgtaa gatgcaccca tattttatgt actgagaaaa
     4621 aatactaaca atcaaattct ggaatgccaa tgattataat atgaatcctg atttcaccaa
     4681 tatgaaactg tgaaaaaatg ttaatgttac aataaaagaa atgggtttta tacaaaaa
//
