LOCUS       NM_000824               3033 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens glycine receptor beta (GLRB), transcript variant 1,
            mRNA.
ACCESSION   NM_000824
VERSION     NM_000824.5
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 3033)
  AUTHORS   Liu,X. and Wang,W.
  TITLE     Gating mechanism of the human alpha1beta GlyR by glycine
  JOURNAL   Structure 32 (10), 1621-1631 (2024)
   PUBMED   39146932
  REMARK    GeneRIF: Gating mechanism of the human alpha1beta GlyR by glycine.
REFERENCE   2  (bases 1 to 3033)
  AUTHORS   Wiessler,A.L., Talucci,I., Piro,I., Seefried,S., Horlin,V.,
            Baykan,B.B., Tuzun,E., Schaefer,N., Maric,H.M., Sommer,C. and
            Villmann,C.
  TITLE     Glycine Receptor beta-Targeting Autoantibodies Contribute to the
            Pathology of Autoimmune Diseases
  JOURNAL   Neurol Neuroimmunol Neuroinflamm 11 (2), e200187 (2024)
   PUBMED   38215349
  REMARK    GeneRIF: Glycine Receptor beta-Targeting Autoantibodies Contribute
            to the Pathology of Autoimmune Diseases.
REFERENCE   3  (bases 1 to 3033)
  AUTHORS   Aboheimed,G.I., AlRasheed,M.M., Almudimeegh,S., Pena-Guerra,K.A.,
            Cardona-Londono,K.J., Salih,M.A., Seidahmed,M.Z., Al-Mohanna,F.,
            Colak,D., Harvey,R.J., Harvey,K., Arold,S.T., Kaya,N. and Ruiz,A.J.
  TITLE     Clinical, genetic, and functional characterization of the glycine
            receptor beta-subunit A455P variant in a family affected by
            hyperekplexia syndrome
  JOURNAL   J Biol Chem 298 (7), 102018 (2022)
   PUBMED   35526563
  REMARK    GeneRIF: Clinical, genetic, and functional characterization of the
            glycine receptor beta-subunit A455P variant in a family affected by
            hyperekplexia syndrome.
REFERENCE   4  (bases 1 to 3033)
  AUTHORS   Ridderbusch,I.C., Richter,J., Yang,Y., Hoefler,M., Weber,H.,
            Reif,A., Hamm,A., Pane-Farre,C.A., Gerlach,A.L., Stroehle,A.,
            Pfleiderer,B., Arolt,V., Wittchen,H.U., Gloster,A., Lang,T.,
            Helbig-Lang,S., Fehm,L., Pauli,P., Kircher,T., Lueken,U. and
            Straube,B.
  TITLE     Association of rs7688285 allelic variation coding for GLRB with
            fear reactivity and exposure-based therapy in patients with panic
            disorder and agoraphobia
  JOURNAL   Eur Neuropsychopharmacol 29 (10), 1138-1151 (2019)
   PUBMED   31444036
  REMARK    GeneRIF: single nucleotide polymorphism of glrb interacts in a
            complex manner with Panic Disorder /AgoraphobiaG on a functional
            systems level and might be involved in the development of PD/AG but
            not in their treatment.
REFERENCE   5  (bases 1 to 3033)
  AUTHORS   Sobetzko,D., Sander,T. and Becker,C.M.
  TITLE     Genetic variation of the human glycine receptor subunit genes GLRA3
            and GLRB and susceptibility to idiopathic generalized epilepsies
  JOURNAL   Am J Med Genet 105 (6), 534-538 (2001)
   PUBMED   11496371
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3033)
  AUTHORS   Sarang,S.S., Miller,G.W., Grant,D.F. and Schnellmann,R.G.
  TITLE     Expression and localization of the neuronal glycine receptor
            beta-subunit in human, rabbit and rat kidneys
  JOURNAL   Nephron 82 (3), 254-260 (1999)
   PUBMED   10395998
REFERENCE   7  (bases 1 to 3033)
  AUTHORS   Milani,N., Mulhardt,C., Weber,R.G., Lichter,P., Kioschis,P.,
            Poustka,A. and Becker,C.M.
  TITLE     The human glycine receptor beta subunit gene (GLRB): structure,
            refined chromosomal localization, and population polymorphism
  JOURNAL   Genomics 50 (3), 341-345 (1998)
   PUBMED   9676428
REFERENCE   8  (bases 1 to 3033)
  AUTHORS   Handford,C.A., Lynch,J.W., Baker,E., Webb,G.C., Ford,J.H.,
            Sutherland,G.R. and Schofield,P.R.
  TITLE     The human glycine receptor beta subunit: primary structure,
            functional characterisation and chromosomal localisation of the
            human and murine genes
  JOURNAL   Brain Res Mol Brain Res 35 (1-2), 211-219 (1996)
   PUBMED   8717357
REFERENCE   9  (bases 1 to 3033)
  AUTHORS   Meyer,G., Kirsch,J., Betz,H. and Langosch,D.
  TITLE     Identification of a gephyrin binding motif on the glycine receptor
            beta subunit
  JOURNAL   Neuron 15 (3), 563-572 (1995)
   PUBMED   7546736
REFERENCE   10 (bases 1 to 3033)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301437
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079403.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000824.4.
            
            Summary: This gene encodes the beta subunit of the glycine
            receptor, which is a pentamer composed of alpha and beta subunits.
            The receptor functions as a neurotransmitter-gated ion channel,
            which produces hyperpolarization via increased chloride conductance
            due to the binding of glycine to the receptor. Mutations in this
            gene cause startle disease, also known as hereditary hyperekplexia
            or congenital stiff-person syndrome, a disease characterized by
            muscular rigidity. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1, also known as variant A)
            represents the longest transcript and encodes the longer isoform
            (A). Both variants 1 and 2 encode the same isoform.
            
            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 :: SRR1660809.106379.1,
                                           SRR1660807.35429.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264428.9/ ENSP00000264428.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               AC079403.3         56704-56851
            149-299             AC079403.3         58550-58700
            300-406             AC079403.3         101110-101216
            407-474             AC079403.3         102884-102951
            475-704             AC079403.3         117023-117252
            705-787             AC079403.3         117358-117440
            788-928             AC079403.3         119363-119503
            929-1081            AC079403.3         124361-124513
            1082-1374           AC079403.3         133272-133564
            1375-3033           AC079403.3         150986-152644
FEATURES             Location/Qualifiers
     source          1..3033
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q32.1"
     gene            1..3033
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="glycine receptor beta"
                     /db_xref="GeneID:2743"
                     /db_xref="HGNC:HGNC:4329"
                     /db_xref="MIM:138492"
     exon            1..148
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            149..299
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..1671
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="isoform A precursor is encoded by transcript
                     variant 1; glycine receptor subunit beta; glycine
                     receptor, beta subunit; glycine receptor 58 kDa subunit"
                     /codon_start=1
                     /product="glycine receptor subunit beta isoform A
                     precursor"
                     /protein_id="NP_000815.1"
                     /db_xref="CCDS:CCDS3796.1"
                     /db_xref="GeneID:2743"
                     /db_xref="HGNC:HGNC:4329"
                     /db_xref="MIM:138492"
                     /translation="MKFLLTTAFLILISLWVEEAYSKEKSSKKGKGKKKQYLCPSQQS
                     AEDLARVPANSTSNILNRLLVSYDPRIRPNFKGIPVDVVVNIFINSFGSIQETTMDYR
                     VNIFLRQKWNDPRLKLPSDFRGSDALTVDPTMYKCLWKPDLFFANEKSANFHDVTQEN
                     ILLFIFRDGDVLVSMRLSITLSCPLDLTLFPMDTQRCKMQLESFGYTTDDLRFIWQSG
                     DPVQLEKIALPQFDIKKEDIEYGNCTKYYKGTGYYTCVEVIFTLRRQVGFYMMGVYAP
                     TLLIVVLSWLSFWINPDASAARVPLGIFSVLSLASECTTLAAELPKVSYVKALDVWLI
                     ACLLFGFASLVEYAVVQVMLNNPKRVEAEKARIAKAEQADGKGGNVAKKNTVNGTGTP
                     VHISTLQVGETRCKKVCTSKSDLRSNDFSIVGSLPRDFELSNYDCYGKPIEVNNGLGK
                     SQAKNNKKPPPAKPVIPTAAKRIDLYARALFPFCFLFFNVIYWSIYL"
     exon            300..406
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            407..474
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            475..704
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            705..787
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            788..928
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1081
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1374
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..3033
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2199..2204
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATAAA"
     regulatory      2211..2216
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATATA"
     polyA_site      2212
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
     polyA_site      2232
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="major polyA site"
     regulatory      2714..2719
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATAAT"
     polyA_site      2742
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
     regulatory      3008..3013
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
                     /note="hexamer: AATAAA"
     polyA_site      3033
                     /gene="GLRB"
                     /gene_synonym="HKPX2"
ORIGIN      
        1 aggcgcgtca gccgagctcg gcggtggcgc gggcggctgg gacgcagctg cccccgctcg
       61 gcgcccgctg cacccttagc agccactgcc acctgggccc ggagcctcca cgatctcgcc
      121 cggcgattgt gggcaggggc gcctccggat cgatcttctg aaattcaagt tttcaagatg
      181 aagtttttat tgacaactgc ctttttaatt ttaatttcct tgtgggtgga agaagcctat
      241 tctaaggaaa agtcttcaaa gaaagggaag gggaaaaaga agcagtatct atgcccatct
      301 cagcagtcag cagaggacct tgcccgagta cctgccaact ccactagcaa tatcttgaac
      361 aggttattgg tcagttatga tcccaggata agaccaaact tcaaaggcat tcctgttgat
      421 gtagtagtca acatttttat taacagtttt ggatccattc aagaaacaac aatggactat
      481 agagttaaca tcttcctgag acaaaaatgg aatgacccca ggctgaagct ccccagtgat
      541 tttaggggtt cagatgcact gacagtggat ccaacaatgt acaagtgttt atggaaacct
      601 gatttatttt ttgcaaatga aaaaagtgcc aattttcatg atgtgaccca ggaaaacatc
      661 ctcctcttta tttttcgtga tggagatgtc cttgtcagca tgaggttatc tattactctt
      721 tcatgccctt tggacttgac attgtttccc atggatacac aacgttgcaa gatgcaactg
      781 gagagctttg gttacacaac tgatgattta cgatttatct ggcagtcagg agatcctgtg
      841 caattagaaa aaattgcctt gcctcaattt gatatcaaaa aggaagatat tgaatatggt
      901 aactgtacaa aatactataa aggcacgggc tactacacat gcgtggaagt catcttcacc
      961 ctgaggaggc aggtcggctt ttacatgatg ggggtctacg ccccaactct gctcattgtt
     1021 gttctctcct ggctttcctt ctggatcaac ccggacgcga gtgctgccag agtgcccctg
     1081 ggtatcttct cagtcctcag cttggcctct gagtgcacaa cccttgccgc tgagcttccc
     1141 aaagtttcct atgtgaaggc tcttgatgtt tggcttattg cttgccttct ctttgggttt
     1201 gcttccctgg tggagtatgc agttgtccag gtgatgctga acaaccccaa aagggttgaa
     1261 gctgaaaaag ccagaattgc taaggctgag caagcagatg gaaaaggtgg aaatgtggct
     1321 aaaaagaata ctgtgaatgg aacagggact cctgttcata ttagcacttt gcaggttggt
     1381 gagaccagat gcaaaaaagt ttgtacttct aagtctgatc tgagatctaa tgacttcagc
     1441 attgttggaa gcttaccaag agattttgaa ctatccaatt atgactgcta tggaaaaccc
     1501 attgaagtta acaacggact tgggaaatct caggctaaga acaacaagaa gcctccccct
     1561 gcgaaacctg ttattccaac agcagcaaag cgaattgatc tttatgcaag agcattgttt
     1621 cctttctgct tcttgttctt caatgttata tattggtcta tatatttatg ataaatcttt
     1681 tccatttgta caaaataaaa ttccatttca ttgtgaccta ctcctttcat aaatgccaat
     1741 ctgtgagaac ttttgaattt tcatagcaac attgcatttt ggatgccatt tgattgtaat
     1801 aaaactgtgg caccttaatt ttgaatggca gcatgatcat gtaatatctg tgctctaata
     1861 acgatgtata tatgtatagt gaacatattg cttagtaaca aatgaaggac aagcatacta
     1921 cataatataa tccatacaat tctcttcagt tagtgtaaac tgcaaatact acagataatt
     1981 ctgataataa aatgatatgc acgctgaatc ctgctatggt caccattcta atgtatgtag
     2041 tatttcaaat ttccttcctt gtaactttca aagaaagcca tcttattctt gtaaaatttt
     2101 agatggtatt atcacagatt taaaaaggtt gtattacata ttgtttaaac tttgtaagta
     2161 gaaatatatc tgttataatt atacaggctc tgtggagaaa taaagttcaa aatatattaa
     2221 tttgtaaaat cagctcgttt taaagtgtgc ttgtgttgtc aaaaatatca gatagtaata
     2281 cacagtgagc atttttaaac aaagggaaac ctatatttat gtaactgtat actgaattct
     2341 gacaaaataa aaaaagatac cttattgacg aaatatttag gataaacaaa attctattta
     2401 atccacctta aaacctaaat gtattttcat ggatttcatt tgttggtaca tattacacaa
     2461 aacattgtgc cttaaaatga gtcatacatc ttttaaattg gaatgcagta atagatatgt
     2521 gattttacat catttttaag aaaccaaggg gaagtaataa gttgaaaaag aaatccataa
     2581 ctattaaaag attttaactt ttttatttta ttaaaatgct tgcatatttt aagtaaaatt
     2641 aaaaatgttt actgaattta tttttttatt tgaatatttt gggattagtt acaaaatatt
     2701 tagagattaa ataaataata gctttgtttg tgttagactt cacttctact tgtattttct
     2761 ttcttgttaa aagtctagac aactgagatt tacttacttt gaacttgttc caatccaaaa
     2821 gtaagcacta agtctcattt tatgagacca ccatttctta atatcacatc cagtgcacct
     2881 ttgtctttct gccatatctg aaataaaact atcagtaatt cacatagata aacataagac
     2941 taaagaagta tatttacatt atctggagag ttttgttgca gctacgagtt tgtatggcaa
     3001 attcaataat aaagtattgt ttatgcaaat tgc
//
