LOCUS       NM_001134366            5391 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens glutamate decarboxylase 2 (GAD2), transcript variant
            2, mRNA.
ACCESSION   NM_001134366
VERSION     NM_001134366.2
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 5391)
  AUTHORS   Wang,J., Owji,A.P., Kittredge,A., Clark,Z., Zhang,Y. and Yang,T.
  TITLE     GAD65 tunes the functions of Best1 as a GABA receptor and a
            neurotransmitter conducting channel
  JOURNAL   Nat Commun 15 (1), 8051 (2024)
   PUBMED   39277606
  REMARK    GeneRIF: GAD65 tunes the functions of Best1 as a GABA receptor and
            a neurotransmitter conducting channel.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5391)
  AUTHORS   Su,Z., Ma,C., Zhao,R., Jiang,Y., Cai,Y., Yong,G., Yang,T. and Xu,X.
  TITLE     Heterogeneity of circulating CXCR5-PD-1hiTph cells in patients of
            type 2 and type 1 diabetes in Chinese population
  JOURNAL   Acta Diabetol 60 (6), 767-776 (2023)
   PUBMED   36879107
  REMARK    GeneRIF: Heterogeneity of circulating CXCR5-PD-1[hi]Tph cells in
            patients of type 2 and type 1 diabetes in Chinese population.
REFERENCE   3  (bases 1 to 5391)
  AUTHORS   Cai,R., Zhao,F., Zhou,H., Wang,Z., Lin,D., Huang,L., Xie,W.,
            Chen,J., Zhou,L., Zhang,N. and Huang,C.
  TITLE     A tumor-associated autoantibody panel for the detection of
            non-small cell lung cancer
  JOURNAL   Front Oncol 12, 1056572 (2022)
   PUBMED   36531074
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5391)
  AUTHORS   Bedi,S., Richardson,T.M., Jia,B., Saab,H., Brinkman,F.S.L. and
            Westley,M.
  TITLE     Similarities between bacterial GAD and human GAD65: Implications in
            gut mediated autoimmune type 1 diabetes
  JOURNAL   PLoS One 17 (2), e0261103 (2022)
   PUBMED   35196314
  REMARK    GeneRIF: Similarities between bacterial GAD and human GAD65:
            Implications in gut mediated autoimmune type 1 diabetes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5391)
  AUTHORS   Vazifekhah,S., Barfi,S., Soleimany,F., Aliakbar,A., Zavvari,F. and
            Karimzadeh,F.
  TITLE     The plasma level of glutamic acid decarboxylase 65 (GAD65)
            increased in severely autistic Iranian children
  JOURNAL   Bratisl Lek Listy 123 (5), 347-351 (2022)
   PUBMED   35420879
  REMARK    GeneRIF: The plasma level of glutamic acid decarboxylase 65 (GAD65)
            increased in severely autistic Iranian children.
REFERENCE   6  (bases 1 to 5391)
  AUTHORS   Dirkx,R. Jr., Thomas,A., Li,L., Lernmark,A., Sherwin,R.S., De
            Camilli,P. and Solimena,M.
  TITLE     Targeting of the 67-kDa isoform of glutamic acid decarboxylase to
            intracellular organelles is mediated by its interaction with the
            NH2-terminal region of the 65-kDa isoform of glutamic acid
            decarboxylase
  JOURNAL   J Biol Chem 270 (5), 2241-2246 (1995)
   PUBMED   7836456
REFERENCE   7  (bases 1 to 5391)
  AUTHORS   Mauch,L., Abney,C.C., Berg,H., Scherbaum,W.A., Liedvogel,B. and
            Northemann,W.
  TITLE     Characterization of a linear epitope within the human pancreatic
            64-kDa glutamic acid decarboxylase and its autoimmune recognition
            by sera from insulin-dependent diabetes mellitus patients
  JOURNAL   Eur J Biochem 212 (2), 597-603 (1993)
   PUBMED   7680313
REFERENCE   8  (bases 1 to 5391)
  AUTHORS   Bu,D.F., Erlander,M.G., Hitz,B.C., Tillakaratne,N.J., Kaufman,D.L.,
            Wagner-McPherson,C.B., Evans,G.A. and Tobin,A.J.
  TITLE     Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are
            each encoded by a single gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (6), 2115-2119 (1992)
   PUBMED   1549570
REFERENCE   9  (bases 1 to 5391)
  AUTHORS   Karlsen,A.E., Hagopian,W.A., Grubin,C.E., Dube,S., Disteche,C.M.,
            Adler,D.A., Barmeier,H., Mathewes,S., Grant,F.J., Foster,D. and
            Lernmark,A.
  TITLE     Cloning and primary structure of a human islet isoform of glutamic
            acid decarboxylase from chromosome 10
  JOURNAL   Proc Natl Acad Sci U S A 88 (19), 8337-8341 (1991)
   PUBMED   1924293
REFERENCE   10 (bases 1 to 5391)
  AUTHORS   Cram,D.S., Barnett,L.D., Joseph,J.L. and Harrison,L.C.
  TITLE     Cloning and partial nucleotide sequence of human glutamic acid
            decarboxylase cDNA from brain and pancreatic islets
  JOURNAL   Biochem Biophys Res Commun 176 (3), 1239-1244 (1991)
   PUBMED   2039509
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from M81882.1 and AL162503.12.
            
            On Nov 22, 2018 this sequence version replaced NM_001134366.1.
            
            Summary: This gene encodes one of several forms of glutamic acid
            decarboxylase, identified as a major autoantigen in
            insulin-dependent diabetes. The enzyme encoded is responsible for
            catalyzing the production of gamma-aminobutyric acid from
            L-glutamic acid. A pathogenic role for this enzyme has been
            identified in the human pancreas since it has been identified as an
            autoantibody and an autoreactive T cell target in insulin-dependent
            diabetes. This gene may also play a role in the stiff man syndrome.
            Alternative splicing results in multiple transcript variants that
            encode the same protein. [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (2) differs in the 3' UTR,
            compared to variant 1.
            
            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 :: M81882.1, SRR1803614.163972.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376261.8/ ENSP00000365437.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1952              M81882.1           17-1968
            1953-5391           AL162503.12        131086-134524
FEATURES             Location/Qualifiers
     source          1..5391
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..5391
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /note="glutamate decarboxylase 2"
                     /db_xref="GeneID:2572"
                     /db_xref="HGNC:HGNC:4093"
                     /db_xref="MIM:138275"
     exon            1..112
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1794
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /EC_number="4.1.1.15"
                     /note="Glutamate decarboxylase-2 (pancreas); GAD-65; 65
                     kDa glutamic acid decarboxylase; glutamate decarboxylase 2
                     (pancreatic islets and brain, 65kDa)"
                     /codon_start=1
                     /product="glutamate decarboxylase 2"
                     /protein_id="NP_001127838.1"
                     /db_xref="CCDS:CCDS7149.1"
                     /db_xref="GeneID:2572"
                     /db_xref="HGNC:HGNC:4093"
                     /db_xref="MIM:138275"
                     /translation="MASPGSGFWSFGSEDGSGDSENPGTARAWCQVAQKFTGGIGNKL
                     CALLYGDAEKPAESGGSQPPRAAARKAACACDQKPCSCSKVDVNYAFLHATDLLPACD
                     GERPTLAFLQDVMNILLQYVVKSFDRSTKVIDFHYPNELLQEYNWELADQPQNLEEIL
                     MHCQTTLKYAIKTGHPRYFNQLSTGLDMVGLAADWLTSTANTNMFTYEIAPVFVLLEY
                     VTLKKMREIIGWPGGSGDGIFSPGGAISNMYAMMIARFKMFPEVKEKGMAALPRLIAF
                     TSEHSHFSLKKGAAALGIGTDSVILIKCDERGKMIPSDLERRILEAKQKGFVPFLVSA
                     TAGTTVYGAFDPLLAVADICKKYKIWMHVDAAWGGGLLMSRKHKWKLSGVERANSVTW
                     NPHKMMGVPLQCSALLVREEGLMQNCNQMHASYLFQQDKHYDLSYDTGDKALQCGRHV
                     DVFKLWLMWRAKGTTGFEAHVDKCLELAEYLYNIIKNREGYEMVFDGKPQHTNVCFWY
                     IPPSLRTLEDNEERMSRLSKVAPVIKARMMEYGTTMVSYQPLGDKVNFFRMVISNPAA
                     THQDIDFLIEEIERLGQDL"
     exon            113..172
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            173..322
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            323..556
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            557..647
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            648..760
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            761..876
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            877..956
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            957..1011
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1128
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1129..1193
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1194..1272
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1273..1422
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1530
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1531..1620
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     exon            1621..5391
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5368..5373
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /note="hexamer: AATAAA"
     polyA_site      5391
                     /gene="GAD2"
                     /gene_synonym="GAD65"
                     /note="major polyA site"
ORIGIN      
        1 gcactcgcag gcgacctgct ccagtctcca aagccgatgg catctccggg ctctggcttt
       61 tggtctttcg ggtcggaaga tggctctggg gattccgaga atcccggcac agcgcgagcc
      121 tggtgccaag tggctcagaa gttcacgggc ggcatcggaa acaaactgtg cgccctgctc
      181 tacggagacg ccgagaagcc ggcggagagc ggcgggagcc aacccccgcg ggccgccgcc
      241 cggaaggccg cctgcgcctg cgaccagaag ccctgcagct gctccaaagt ggatgtcaac
      301 tacgcgtttc tccatgcaac agacctgctg ccggcgtgtg atggagaaag gcccactttg
      361 gcgtttctgc aagatgttat gaacatttta cttcagtatg tggtgaaaag tttcgataga
      421 tcaaccaaag tgattgattt ccattatcct aatgagcttc tccaagaata taattgggaa
      481 ttggcagacc aaccacaaaa tttggaggaa attttgatgc attgccaaac aactctaaaa
      541 tatgcaatta aaacagggca tcctagatac ttcaatcaac tttctactgg tttggatatg
      601 gttggattag cagcagactg gctgacatca acagcaaata ctaacatgtt cacctatgaa
      661 attgctccag tatttgtgct tttggaatat gtcacactaa agaaaatgag agaaatcatt
      721 ggctggccag ggggctctgg cgatgggata ttttctcccg gtggcgccat atctaacatg
      781 tatgccatga tgatcgcacg ctttaagatg ttcccagaag tcaaggagaa aggaatggct
      841 gctcttccca ggctcattgc cttcacgtct gaacatagtc atttttctct caagaaggga
      901 gctgcagcct tagggattgg aacagacagc gtgattctga ttaaatgtga tgagagaggg
      961 aaaatgattc catctgatct tgaaagaagg attcttgaag ccaaacagaa agggtttgtt
     1021 cctttcctcg tgagtgccac agctggaacc accgtgtacg gagcatttga ccccctctta
     1081 gctgtcgctg acatttgcaa aaagtataag atctggatgc atgtggatgc agcttggggt
     1141 gggggattac tgatgtcccg aaaacacaag tggaaactga gtggcgtgga gagggccaac
     1201 tctgtgacgt ggaatccaca caagatgatg ggagtccctt tgcagtgctc tgctctcctg
     1261 gttagagaag agggattgat gcagaattgc aaccaaatgc atgcctccta cctctttcag
     1321 caagataaac attatgacct gtcctatgac actggagaca aggccttaca gtgcggacgc
     1381 cacgttgatg tttttaaact atggctgatg tggagggcaa aggggactac cgggtttgaa
     1441 gcgcatgttg ataaatgttt ggagttggca gagtatttat acaacatcat aaaaaaccga
     1501 gaaggatatg agatggtgtt tgatgggaag cctcagcaca caaatgtctg cttctggtac
     1561 attcctccaa gcttgcgtac tctggaagac aatgaagaga gaatgagtcg cctctcgaag
     1621 gtggctccag tgattaaagc cagaatgatg gagtatggaa ccacaatggt cagctaccaa
     1681 cccttgggag acaaggtcaa tttcttccgc atggtcatct caaacccagc ggcaactcac
     1741 caagacattg acttcctgat tgaagaaata gaacgccttg gacaagattt ataataacct
     1801 tgctcaccaa gctgttccac ttctctaggt agacaattaa gttgtcacaa actgtgtgaa
     1861 tgtatttgta gtttgttcca aagtaaatct atttctatat tgtggtgtca aagtagagtt
     1921 taaaaattaa acaaaaaaga cattgctcct tttaaaagtc ctttcttaag tttagaatac
     1981 ctctctaaga attcgtgaca aaaggctatg ttctaatcaa taaggaaaag cttaaaattg
     2041 ttataaatac ttcccttact tttaatatag tgtgcaaagc aaactttatt ttcacttcag
     2101 actagtagga ctgaatagtg ccaaattgcc cctgaatcat aaaaggttct ttggggtgca
     2161 gtaaaaagga caaagtaaat ataaaatata tgttgacaat aaaaactctt gcctttttca
     2221 tagtattaga aaaaaatttc taatttacct atagcaacat ttcaaatgta tttaaataca
     2281 tataatttta caaaaggaaa atatatatat taaaaaagat atcctatttt gtaacatata
     2341 gatttttatt ttatataggt tatacaaact gcgggggcag atataaaatc taagccagat
     2401 ttttttttcc tttctcttaa tggaggcaca ataaaacact tagcaaagtt attttgaaac
     2461 attgacccac gaaattctta aaaggtatta ttgcttcttt ctatacatgt tatggcttat
     2521 cacatctcta aagttagtat ttcaagacaa acacaaaaga atactgcgag ttctttaaaa
     2581 taattgatcc cattggcagt aagattctct tcccctttaa gttttccacc cattttactc
     2641 ttagcggact cactctgcaa gcgtgacaaa ccaggcttca tctcagatta aattagggta
     2701 attgtctcta ttctgctttc cagttcggcc tgttttgaac agaaggttga tgctagttct
     2761 tgaggcatct tccaaatagt attcttttat taggtcattt gaattaatta gagaaagtaa
     2821 aaataaaacc ttatcagcct gagcaaagag gaatgaagca cactcccaga atgtggtgag
     2881 cccagaaaat taaagttggc cttgggagaa gagatctctg tgggacaata atgacatcat
     2941 cctggcgcca tattgccact gtccaggaaa gagaaattta cctccaggcc agttgcgcat
     3001 ttccatcccc tccccattcc tccccacaaa gtctctccca ctagactccc taccactggg
     3061 acccaaaata gttactttat attccatggg tggttgtttt tcttccatga aatgagcctc
     3121 tcaccctaga ttttgaggca ttatcttaag attttccttt atccatctcc catcgagatc
     3181 caaagtgacc agaatatgca gaaataataa gatccttaga attcaaaata gtatttttaa
     3241 aacatccttc tttccctgtg aacctgatag aaaaacatga gctaacaaaa gcttccatag
     3301 atatttatgg ggtcacacat cgtcagattc caagtgctga ttggagaaca atagattgat
     3361 atgcagactg caaatgcaaa tttaggaaca ttctccattt ctgaatggac caggtagttc
     3421 agtactcaga ctgcaggtat acaagggaag agagaaggcc ctgcccttca acgggtagaa
     3481 atgccctaca atataacata gagaaatgcc ctataatata accacaggat ccagccatct
     3541 gaaattttca taagcttccc cctacattat ttctcctagg ctatatgcaa aaacagtgat
     3601 aacttgatat gaacatggct ttgggccctt tctgtctaga aaaacaaatg ggttcactat
     3661 gacaatcaga aataaactct ttcatctgtc ccgcagaatt tcatgaagga gtaaccttcc
     3721 attctaggct ttgtctaatg gccaagcatt agacaaagca ttagaaagca gttcctttct
     3781 caaaactgcc tgctgagaat aagcacatag ctgcccgact atccggagcc tcaggcccaa
     3841 aggttccact tcagagacag agatgctaat tgatccaacc tgctgtcctt cgtggagaag
     3901 acagtggggc ccagtgccct ggtgaaccaa ccctgctgta ctccaggatg ctttatcttt
     3961 tgagttacag atcctagatt ataaactgct gctttttagg ttaatgagat ggtaaaattt
     4021 taaaggacaa tttgtgccta tatatgaaat tccagcaaaa caattctagc aacaacaata
     4081 gctcttcttc cccgctcccc taccccttcc cagtactcct tcaaattggc tgagagcctt
     4141 gctcaggcct gtgcagggaa atccttacca actgtagccc aaagaaggaa gcaaataaaa
     4201 gcctagtagg tcccagtagt ttaataaatc atcttgaaag gagatgtgga atcaggtcag
     4261 aagagagtaa gggaggaagg gagggaggga gggagggagg gaaggaggga gggaggaagg
     4321 aaatgaaggg agggagggag ggaggaaaga agggagatta tttttaatat tagcccaaat
     4381 tcccagtgcc atggtcttta tgtgtgccca ttctttacaa atcttagaaa agtttggttt
     4441 tagctttaat cagaactgac atggccattt tcatttatac agcaatattg tgtttatcat
     4501 ttaaaatact tgaacaaaca agtgtgatat gtctttatct gagacctata catggtatgg
     4561 acttcatata ctgccacagg atgtgaggaa agaaaaggaa atcaattctg actgtgttgc
     4621 ctttattatc tggataatac tgtcttgtca cctcagattg gggttgtgca ctttagatct
     4681 gaactgtaca gtgttgcaaa tcaacatgtg tttctgtaaa agcttgtaca atatattatt
     4741 gatatgtctt tttctgtgtg gtagctgtat tgaactttga tattatgaaa actacatttg
     4801 catctgttcc tgttctctct ctctctctct ttcctaacta tatgccctcc acatcggctc
     4861 taatagagaa catgccctca gctaagcccc ctactgagaa acttcctttg agaattgtgc
     4921 gacttcacaa aatgcaaggt gaacaccact ttgtctctga gaacagacgt taccaattat
     4981 ggagtgtcac cagctgccaa aatcgtaggt gttggctctg ctggtcactg gagtagttgc
     5041 tactcttcag aatatggaca aagaaggcac aggtgtaaat atagtagcag gatgaggaac
     5101 ctcaaactgg gtatcatttt gcacgtgctc ttctgttctc aaatgctaaa tgcaaacact
     5161 gtgtatttat tagttaggtg tgccaaacta ccgttcccaa attggtgttt ctgaatgaca
     5221 tcaacattcc cccaacatta ctccattact aaagacagaa aaaaataaaa acataaaata
     5281 tacaaacatg tggcaacctg ttcttcctac caaatataaa cttgtgtatg atccaagtat
     5341 tttatctgtg ttgtctctct aaacccaaat aaatgtgtaa atgtggacac a
//
