LOCUS       NM_002063               3208 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens glycine receptor alpha 2 (GLRA2), transcript variant
            1, mRNA.
ACCESSION   NM_002063
VERSION     NM_002063.4
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 3208)
  AUTHORS   Tian,Q., Tong,P., Chen,G., Deng,M., Cai,T., Tian,R., Zhang,Z.,
            Xia,K. and Hu,Z.
  TITLE     GLRA2 gene mutations cause high myopia in humans and mice
  JOURNAL   J Med Genet 60 (2), 193-203 (2023)
   PUBMED   35396272
  REMARK    GeneRIF: GLRA2 gene mutations cause high myopia in humans and mice.
REFERENCE   2  (bases 1 to 3208)
  AUTHORS   Raltschev,C., Hetsch,F., Winkelmann,A., Meier,J.C. and Semtner,M.
  TITLE     Electrophysiological Signature of Homomeric and Heteromeric Glycine
            Receptor Channels
  JOURNAL   J Biol Chem 291 (34), 18030-18040 (2016)
   PUBMED   27382060
  REMARK    GeneRIF: data show that the current-voltage relationships of
            homomeric channels formed by the alpha2 or alpha3 subunits change
            upon receptor desensitization from a linear to an inwardly
            rectifying shape, in contrast to their heteromeric counterparts.
REFERENCE   3  (bases 1 to 3208)
  AUTHORS   McCracken,L.M., Trudell,J.R., McCracken,M.L. and Harris,R.A.
  TITLE     Zinc-dependent modulation of alpha2- and alpha3-glycine receptor
            subunits by ethanol
  JOURNAL   Alcohol Clin Exp Res 37 (12), 2002-2010 (2013)
   PUBMED   23895467
REFERENCE   4  (bases 1 to 3208)
  AUTHORS   Wegner,F., Kraft,R., Busse,K., Hartig,W., Ahrens,J., Leffler,A.,
            Dengler,R. and Schwarz,J.
  TITLE     Differentiated human midbrain-derived neural progenitor cells
            express excitatory strychnine-sensitive glycine receptors
            containing alpha2beta subunits
  JOURNAL   PLoS One 7 (5), e36946 (2012)
   PUBMED   22606311
  REMARK    GeneRIF: investigated neural progenitor cells in respect to their
            glycine receptor function and subunit expression using
            electrophysiology, calcium imaging, immunocytochemistry, and
            quantitative real-time PCR
REFERENCE   5  (bases 1 to 3208)
  AUTHORS   Hong,C.W., Kim,T.K., Ham,H.Y., Nam,J.S., Kim,Y.H., Zheng,H.,
            Pang,B., Min,T.K., Jung,J.S., Lee,S.N., Cho,H.J., Kim,E.J.,
            Hong,I.H., Kang,T.C., Lee,J., Oh,S.B., Jung,S.J., Kim,S.J. and
            Song,D.K.
  TITLE     Lysophosphatidylcholine increases neutrophil bactericidal activity
            by enhancement of azurophil granule-phagosome fusion via
            glycine.GlyR alpha 2/TRPM2/p38 MAPK signaling
  JOURNAL   J Immunol 184 (8), 4401-4413 (2010)
   PUBMED   20237295
  REMARK    GeneRIF: Enhancement of azurophil granule-phagosome fusion via
            glycine receptor alpha 2 subunit (GlyRalpha2)/transient receptor
            potential melastatin (TRPM)2/p38 MAP kinase signaling is a novel
            target for enhancement of neutrophil bactericidal activity.
REFERENCE   6  (bases 1 to 3208)
  AUTHORS   Davies,D.L., Crawford,D.K., Trudell,J.R., Mihic,S.J. and
            Alkana,R.L.
  TITLE     Multiple sites of ethanol action in alpha1 and alpha2 glycine
            receptors suggested by sensitivity to pressure antagonism
  JOURNAL   J Neurochem 89 (5), 1175-1185 (2004)
   PUBMED   15147510
  REMARK    GeneRIF: Effects of 12 times normal atmospheric pressure of
            helium-oxygen gas (pressure) on ethanol-induced potentiation of
            GlyR function in Xenopus oocytes expressing human alpha1, alpha2 or
            the mutant alpha1(A52S) GlyRs were measured by voltage clamp
            technics
REFERENCE   7  (bases 1 to 3208)
  AUTHORS   Feng,J., Craddock,N., Jones,I.R., Cook,E.H. Jr., Goldman,D.,
            Heston,L.L., Peltonen,L., DeLisi,L.E. and Sommer,S.S.
  TITLE     Systematic screening for mutations in the glycine receptor alpha2
            subunit gene (GLRA2) in patients with schizophrenia and other
            psychiatric diseases
  JOURNAL   Psychiatr Genet 11 (1), 45-48 (2001)
   PUBMED   11409700
REFERENCE   8  (bases 1 to 3208)
  AUTHORS   Cummings,C.J., Dahle,E.J. and Zoghbi,H.Y.
  TITLE     Analysis of the genomic structure of the human glycine receptor
            alpha2 subunit gene and exclusion of this gene as a candidate for
            Rett syndrome
  JOURNAL   Am J Med Genet 78 (2), 176-178 (1998)
   PUBMED   9674912
REFERENCE   9  (bases 1 to 3208)
  AUTHORS   Monani,U. and Burghes,A.H.
  TITLE     Structure of the human alpha 2 subunit gene of the glycine
            receptor--use of vectorette and Alu-exon PCR
  JOURNAL   Genome Res 6 (12), 1200-1206 (1996)
   PUBMED   8973915
REFERENCE   10 (bases 1 to 3208)
  AUTHORS   Grenningloh,G., Schmieden,V., Schofield,P.R., Seeburg,P.H.,
            Siddique,T., Mohandas,T.K., Becker,C.M. and Betz,H.
  TITLE     Alpha subunit variants of the human glycine receptor: primary
            structures, functional expression and chromosomal localization of
            the corresponding genes
  JOURNAL   EMBO J 9 (3), 771-776 (1990)
   PUBMED   2155780
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA495302.1, AY437083.1,
            BC045547.1 and AA081959.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002063.3.
            
            Summary: The glycine receptor consists of two subunits, alpha and
            beta, and acts as a pentamer. The protein encoded by this gene is
            an alpha subunit and can bind strychnine. Several transcript
            variants encoding different isoforms have been found for this
            gene.[provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (1) encodes isoform A.
            
            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 :: BC045547.1, BC032864.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218075.9/ ENSP00000218075.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-522               DA495302.1         33-554
            523-1881            AY437083.1         1-1359
            1882-2094           BC045547.1         1896-2108
            2095-2095           AA081959.1         87-87
            2096-2332           BC045547.1         2110-2346
            2333-2346           AA081959.1         297-310
            2347-3208           BC045547.1         2347-3208
FEATURES             Location/Qualifiers
     source          1..3208
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..3208
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /note="glycine receptor alpha 2"
                     /db_xref="GeneID:2742"
                     /db_xref="HGNC:HGNC:4327"
                     /db_xref="MIM:305990"
     exon            1..590
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     CDS             523..1881
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /note="isoform A precursor is encoded by transcript
                     variant 1; glycine receptor subunit alpha-2; glycine
                     receptor, alpha-2 polypeptide; glycine receptor alpha 2
                     subunit"
                     /codon_start=1
                     /product="glycine receptor subunit alpha-2 isoform A
                     precursor"
                     /protein_id="NP_002054.1"
                     /db_xref="CCDS:CCDS14160.1"
                     /db_xref="GeneID:2742"
                     /db_xref="HGNC:HGNC:4327"
                     /db_xref="MIM:305990"
                     /translation="MNRQLVNILTALFAFFLETNHFRTAFCKDHDSRSGKQPSQTLSP
                     SDFLDKLMGRTSGYDARIRPNFKGPPVNVTCNIFINSFGSVTETTMDYRVNIFLRQQW
                     NDSRLAYSEYPDDSLDLDPSMLDSIWKPDLFFANEKGANFHDVTTDNKLLRISKNGKV
                     LYSIRLTLTLSCPMDLKNFPMDVQTCTMQLESFGYTMNDLIFEWLSDGPVQVAEGLTL
                     PQFILKEEKELGYCTKHYNTGKFTCIEVKFHLERQMGYYLIQMYIPSLLIVILSWVSF
                     WINMDAAPARVALGITTVLTMTTQSSGSRASLPKVSYVKAIDIWMAVCLLFVFAALLE
                     YAAVNFVSRQHKEFLRLRRRQKRQNKEEDVTRESRFNFSGYGMGHCLQVKDGTAVKAT
                     PANPLPQPPKDGDAIKKKFVDRAKRIDTISRAAFPLAFLIFNIFYWITYKIIRHEDVH
                     KK"
     exon            591..724
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            725..792
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            793..1016
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1099
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1237
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1452
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            1453..1602
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     exon            1603..3208
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3186..3191
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /note="hexamer: AATAAA"
     polyA_site      3208
                     /gene="GLRA2"
                     /gene_synonym="GLR; MRXSP"
                     /note="major polyA site"
ORIGIN      
        1 gtctcattct atagccctca ttccagcaca ggatctcagc aatttttccc tcttcccccc
       61 acccactcca gcgcgcagag tcctttcttc tctctcattt acaacttctt tttaaaagaa
      121 aacattttct agaaaaaggg ctttgctaaa cagaaaagat ataaaacaaa agccacagct
      181 atctagcatg gcattgtcac caactccctt tgcatggtga tgcgattaag gtagcagcat
      241 ttttattatt caggaaaagc agctggggga ttcatcagtt ctgaggcttt gtctttctgg
      301 gttaactgat ggtcccaagc ctcggtttga cctgaccatg atgcccagga ctggcacttt
      361 ttcttttttc tcagcaaact gtacaaaacc aaatctcttt ttgattttca aggaaactag
      421 gttcctgcca aattttgaat ctggacaata aacagacact ttgtcctagc atctttctgg
      481 aatcatttcg ggatattttc cacaagcaac acagaaacag gaatgaaccg gcagctagtg
      541 aacattttga cagccttgtt tgcatttttc ttagagacaa accacttcag gacggctttc
      601 tgcaaagacc atgactccag gtctggaaaa caaccttcac agaccctatc tccttcagat
      661 ttcttggaca agttaatggg aaggacatca ggatatgatg caagaatcag gccaaatttt
      721 aaaggtcctc cagtaaacgt tacttgcaat atttttatca acagttttgg atcagtcaca
      781 gaaacgacca tggactaccg agtgaatatt tttctgagac aacagtggaa tgattcacgg
      841 ctggcgtaca gtgagtaccc agatgactcc ctggacttgg acccatccat gctagactcc
      901 atttggaaac cagatttgtt ctttgccaat gagaagggtg ccaacttcca cgatgtcacc
      961 actgacaaca aattgctacg gatttcgaaa aatggcaaag tgctctacag tatcagactc
     1021 accttgacct tatcctgtcc catggacttg aagaactttc cgatggatgt ccagacctgt
     1081 acaatgcagc tggagagttt tgggtacacg atgaatgacc tgatatttga gtggttaagt
     1141 gatggtccag tgcaagttgc tgaaggattg accctgcccc agtttatttt gaaagaagag
     1201 aaggaacttg gctactgtac aaagcactac aacactggaa agtttacctg cattgaggtc
     1261 aagtttcatc tggaacgcca aatgggatat tatttgatcc agatgtacat cccaagcctg
     1321 cttatagtaa ttttgtcctg ggtttccttt tggataaata tggatgcagc ccctgccagg
     1381 gtcgcactgg gcatcaccac agtcttaacg atgaccaccc agagttcagg ctccagggca
     1441 tctctgccaa aggtctccta tgtaaaagcg attgacatct ggatggcggt gtgccttctg
     1501 tttgtgtttg ctgccttact ggaatacgca gcggtgaact tcgtctccag gcaacacaag
     1561 gagttcctgc gcctccgaag aagacagaag aggcagaata aggaagaaga cgttactcgt
     1621 gaaagtcgtt ttaattttag cggttatggg atgggtcact gcctccaagt gaaagatgga
     1681 acagctgtca aggccacacc tgccaaccca ctcccacaac cgccaaaaga tggagatgct
     1741 atcaagaaga agtttgtgga ccgggcaaaa aggattgaca cgatatctcg agctgccttc
     1801 ccattggcct tcctcatttt caacatcttt tactggatca catacaagat cattcggcat
     1861 gaagatgtcc acaagaaata gatgtgccct acagaccctg ggaccttctt gcctcagtgt
     1921 tgtgcttgta aatacacagt gaaattgtct ttatatcact ttgacagagg agaagattga
     1981 gggagggggg agggagggtc atgggggtgg gtttcctggc acctacatga aaaaaaagac
     2041 aagttatatg ggtgatgaag aaaactgcac aaaattaagg ggttgcagaa tcacgggagc
     2101 ataataattc ccttccataa tctttagcat tgttctttca gtcagacatg atatgcgcaa
     2161 cattcagaca tgatatgcgc atcattcaga catgatatgc ggggtcaagt tcttaagggc
     2221 tgtttgcctt ttggtccttt tggtttggtt tggctttgac taattctggt actgaaaagt
     2281 tagctataca cacacacaca cacacacaca cacacacaca cacacacaca cacacacaca
     2341 cacacaaact tcaaaaatgc ttaaccatct gaccatagtg actagcctat agtgagtcga
     2401 ggaccaaact ttttcaggaa aatgctgcct cgtttttaaa acaagcctcc taagctatgt
     2461 tctttacaat gtctgtaatt agtgtttcac ttgagaaagc cttttgtggg tcgtaaatta
     2521 tttctactta tccagtaaat aacaatgaca aaataaacac caatgacaga aaaatttcta
     2581 ctttactgtc catataggtg tgcattttaa tatttttctt tccaagataa aattttgaaa
     2641 cttaaattgt gtattgtgta attaatttga tagtgtaccc tcttaataaa tgcccacttt
     2701 attttatatc caagttagtg cattatatat atatttttgc tttggctata tttacacgtg
     2761 actttaatcg cccaactgtg actagtcatt gcagctactc agctacagta tttatggaga
     2821 tggtgtgtcc tgaacagtgt agctcaggtc agcttgaact ttccatttct gctctcattg
     2881 taggtgtaac tactagtcct aatgtcaact gacccatgat ttctactgtc agtcaatata
     2941 agtgaacatt gttttaaata tccttaacta acttaaagaa ttttaaaatt gtactgtgat
     3001 tttcataacc cgttgccttt ttggtaccag agctacgtgg tttgaattct ggctacatgt
     3061 tttaagtaag aaaaaaaaag acgtattttt gcttactcag ataaaagaca acctgtaaaa
     3121 atataataat taaattttac atgtgctgta caaggggtta ttttaaaaag catttgttca
     3181 atttcaataa agctaagtgt gccgcaaa
//
