LOCUS       NM_021957               3214 bp    mRNA    linear   PRI 23-APR-2024
DEFINITION  Homo sapiens glycogen synthase 2 (GYS2), mRNA.
ACCESSION   NM_021957
VERSION     NM_021957.4
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 3214)
  AUTHORS   Ilyas,M., Holzwarth,D., Ishaq,R., Ali,Y., Habiba,U., Raja,A.M.,
            Saeed,S., Abdullah,U., Khan,S.N., Ullah,A., Raja,G.K., Baig,S.M.,
            Fazeli,W., Kunz,W.S. and Shaiq,P.A.
  TITLE     Whole-Exome sequencing identifies GYS2 biallelic variants in
            individuals with suspected epilepsy
  JOURNAL   Seizure 116, 74-80 (2024)
   PUBMED   37574425
  REMARK    GeneRIF: Whole-Exome sequencing identifies GYS2 biallelic variants
            in individuals with suspected epilepsy.
REFERENCE   2  (bases 1 to 3214)
  AUTHORS   A,S., Wu,H., Wang,X., Wang,X., Yang,J., Xia,L. and Xia,Y.
  TITLE     Value of glycogen synthase 2 in intrahepatic cholangiocarcinoma
            prognosis assessment and its influence on the activity of cancer
            cells
  JOURNAL   Bioengineered 12 (2), 12167-12178 (2021)
   PUBMED   34783271
  REMARK    GeneRIF: Value of glycogen synthase 2 in intrahepatic
            cholangiocarcinoma prognosis assessment and its influence on the
            activity of cancer cells.
REFERENCE   3  (bases 1 to 3214)
  AUTHORS   Arko,J.J., Debeljak,M., Tansek,M.Z., Battelino,T. and Groselj,U.
  TITLE     A patient with glycogen storage disease type 0 and a novel sequence
            variant in GYS2: a case report and literature review
  JOURNAL   J Int Med Res 48 (8), 300060520936857 (2020)
   PUBMED   32779500
  REMARK    GeneRIF: A patient with glycogen storage disease type 0 and a novel
            sequence variant in GYS2: a case report and literature review.
            Review article
REFERENCE   4  (bases 1 to 3214)
  AUTHORS   Chen,S.L., Zhang,C.Z., Liu,L.L., Lu,S.X., Pan,Y.H., Wang,C.H.,
            He,Y.F., Lin,C.S., Yang,X., Xie,D. and Yun,J.P.
  TITLE     A GYS2/p53 Negative Feedback Loop Restricts Tumor Growth in
            HBV-Related Hepatocellular Carcinoma
  JOURNAL   Cancer Res 79 (3), 534-545 (2019)
   PUBMED   30584071
  REMARK    GeneRIF: Findings suggest that GYS2 serves as a prognostic factor
            and functions as a tumor suppressor in HCC. The newly identified
            HBx/GYS2/p53 axis is responsible for the deregulation of glycogen
            metabolism.
REFERENCE   5  (bases 1 to 3214)
  AUTHORS   Kasapkara,C.S., Aycan,Z., Acoglu,E., Senel,S., Oguz,M.M. and
            Ceylaner,S.
  TITLE     The variable clinical phenotype of three patients with hepatic
            glycogen synthase deficiency
  JOURNAL   J Pediatr Endocrinol Metab 30 (4), 459-462 (2017)
   PUBMED   28245189
  REMARK    GeneRIF: Mutation in GYS2 gene is associated with hepatic glycogen
            synthase deficiency.
REFERENCE   6  (bases 1 to 3214)
  AUTHORS   Orho,M., Bosshard,N.U., Buist,N.R., Gitzelmann,R.,
            Aynsley-Green,A., Blumel,P., Gannon,M.C., Nuttall,F.Q. and
            Groop,L.C.
  TITLE     Mutations in the liver glycogen synthase gene in children with
            hypoglycemia due to glycogen storage disease type 0
  JOURNAL   J Clin Invest 102 (3), 507-515 (1998)
   PUBMED   9691087
REFERENCE   7  (bases 1 to 3214)
  AUTHORS   Nuttall,F.Q., Gannon,M.C., Bai,G. and Lee,E.Y.
  TITLE     Primary structure of human liver glycogen synthase deduced by cDNA
            cloning
  JOURNAL   Arch Biochem Biophys 311 (2), 443-449 (1994)
   PUBMED   8203908
REFERENCE   8  (bases 1 to 3214)
  AUTHORS   Nuttall,F.Q., Gannon,M.C., Kubic,V.L. and Hoyt,K.J.
  TITLE     The human liver Glycogen synthase isozyme gene is located on the
            short arm of chromosome 12
  JOURNAL   Genomics 19 (2), 404-405 (1994)
   PUBMED   8188280
REFERENCE   9  (bases 1 to 3214)
  AUTHORS   Westphal,S.A. and Nuttall,F.Q.
  TITLE     Comparative characterization of human and rat liver glycogen
            synthase
  JOURNAL   Arch Biochem Biophys 292 (2), 479-486 (1992)
   PUBMED   1731614
REFERENCE   10 (bases 1 to 3214)
  AUTHORS   Stalmans,W., Bollen,M., Toth,B. and Gergely,P.
  TITLE     Short-term hormonal control of protein phosphatases involved in
            hepatic glycogen metabolism
  JOURNAL   Adv Enzyme Regul 30, 305-327 (1990)
   PUBMED   2169698
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB185936.1, BC126310.1,
            AV653197.1 and AC006559.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 16, 2018 this sequence version replaced NM_021957.3.
            
            Summary: The protein encoded by this gene, liver glycogen synthase,
            catalyzes the rate-limiting step in the synthesis of glycogen - the
            transfer of a glucose molecule from UDP-glucose to a terminal
            branch of the glycogen molecule. Mutations in this gene cause
            glycogen storage disease type 0 (GSD-0) - a rare type of early
            childhood fasting hypoglycemia with decreased liver glycogen
            content. [provided by RefSeq, Dec 2009].
            
            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.
            
            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 :: D29685.1, S70004.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261195.3/ ENSP00000261195.2
            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
            1-568               DB185936.1         12-579
            569-1341            BC126310.1         339-1111
            1342-1592           AV653197.1         1-251               c
            1593-2518           BC126310.1         1363-2288
            2519-3214           AC006559.6         167580-168275       c
FEATURES             Location/Qualifiers
     source          1..3214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p12.1"
     gene            1..3214
                     /gene="GYS2"
                     /note="glycogen synthase 2"
                     /db_xref="GeneID:2998"
                     /db_xref="HGNC:HGNC:4707"
                     /db_xref="MIM:138571"
     exon            1..376
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             256..2367
                     /gene="GYS2"
                     /EC_number="2.4.1.11"
                     /note="glycogen synthase 2 (liver)"
                     /codon_start=1
                     /product="glycogen [starch] synthase, liver"
                     /protein_id="NP_068776.2"
                     /db_xref="CCDS:CCDS8690.1"
                     /db_xref="GeneID:2998"
                     /db_xref="HGNC:HGNC:4707"
                     /db_xref="MIM:138571"
                     /translation="MLRGRSLSVTSLGGLPQWEVEELPVEELLLFEVAWEVTNKVGGI
                     YTVIQTKAKTTADEWGENYFLIGPYFEHNMKTQVEQCEPVNDAVRRAVDAMNKHGCQV
                     HFGRWLIEGSPYVVLFDIGYSAWNLDRWKGDLWEACSVGIPYHDREANDMLIFGSLTA
                     WFLKEVTDHADGKYVVAQFHEWQAGIGLILSRARKLPIATIFTTHATLLGRYLCAANI
                     DFYNHLDKFNIDKEAGERQIYHRYCMERASVHCAHVFTTVSEITAIEAEHMLKRKPDV
                     VTPNGLNVKKFSAVHEFQNLHAMYKARIQDFVRGHFYGHLDFDLEKTLFLFIAGRYEF
                     SNKGADIFLESLSRLNFLLRMHKSDITVMVFFIMPAKTNNFNVETLKGQAVRKQLWDV
                     AHSVKEKFGKKLYDALLRGEIPDLNDILDRDDLTIMKRAIFSTQRQSLPPVTTHNMID
                     DSTDPILSTIRRIGLFNNRTDRVKVILHPEFLSSTSPLLPMDYEEFVRGCHLGVFPSY
                     YEPWGYTPAECTVMGIPSVTTNLSGFGCFMQEHVADPTAYGIYIVDRRFRSPDDSCNQ
                     LTKFLYGFCKQSRRQRIIQRNRTERLSDLLDWRYLGRYYQHARHLTLSRAFPDKFHVE
                     LTSPPTTEGFKYPRPSSVPPSPSGSQASSPQSSDVEDEVEDERYDEEEEAERDRLNIK
                     SPFSLSHVPHGKKKLHGEYKN"
     exon            377..558
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            559..750
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            751..933
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1078
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1196
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1317
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1424
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1425..1484
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1485..1563
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1677
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1678..1804
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1805..1900
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            1901..2064
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2065..2145
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..3214
                     /gene="GYS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3104..3109
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYS2"
                     /note="hexamer: AATAAA"
     polyA_site      3132
                     /gene="GYS2"
     regulatory      3188..3193
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYS2"
                     /note="hexamer: AATAAA"
     polyA_site      3214
                     /gene="GYS2"
                     /note="major polyA site"
ORIGIN      
        1 agatactgac agggcagata ccgtcctcac aatacctgcc cagaaagacg agaaagagga
       61 ggaagaattc ctccttccac caggaattct gtgggaagca cataagattt catgctacta
      121 gtttattccc aagagaagct accaaagcct ggtaactcta ccaactctaa cttttgtgcc
      181 tgtaagttct cttctcctgg gattacaact aattgaaaca ggaattcaaa ggagtctcgg
      241 aggactgtaa gaagaatgct tcgaggccga tccctctctg taacatccct gggtgggctt
      301 ccccagtggg aagtcgaaga acttcctgtg gaggagttac tgctctttga agttgcttgg
      361 gaagtgacca ataaagttgg aggcatctat actgtgattc agacaaaggc caaaacaaca
      421 gcagatgaat ggggagagaa ctattttctg ataggtccat attttgagca taatatgaag
      481 actcaggtgg aacagtgtga acctgtaaat gatgctgtca gaagagcagt ggacgcaatg
      541 aataagcatg gctgccaggt gcattttgga agatggctga tagaaggaag tccttatgtg
      601 gtactttttg acataggcta ttcagcttgg aatctggaca ggtggaaggg tgacctctgg
      661 gaagcatgca gtgtcggcat tccttatcat gaccgagaag ccaatgatat gctgatattt
      721 ggatctttaa ctgcctggtt cttaaaagag gtgacagatc atgcagatgg taaatatgtc
      781 gttgcccaat tccatgaatg gcaggctgga attggactga tcctttctcg agccaggaaa
      841 cttcctattg ccacaatatt tacaacccac gctacactac ttgggaggta tctctgtgca
      901 gcaaatattg atttctacaa ccatcttgat aagtttaaca ttgacaaaga ggctggggaa
      961 aggcagattt accaccggta ctgcatggag cgagcttccg ttcattgcgc tcacgtgttc
     1021 accacggttt ctgaaataac agcaatagaa gctgaacata tgctgaagag aaagcctgat
     1081 gtagttactc caaacggctt gaatgttaag aaattttcag cagtgcatga gtttcaaaat
     1141 ctacatgcca tgtacaaggc cagaatccaa gattttgttc gaggtcattt ctatggtcat
     1201 ctcgactttg atcttgaaaa gactttgttc cttttcattg ctgggaggta tgagttttca
     1261 aacaaaggag ctgacatctt cctagaatcc ttatccaggc taaatttcct gctgaggatg
     1321 cataaaagtg acatcacagt gatggtgttt ttcattatgc ctgccaagac aaataatttc
     1381 aacgtggaaa ccctgaaagg acaagcagtg cgaaaacagc tgtgggatgt tgcacattct
     1441 gtgaaggaaa agtttggaaa aaaactctat gatgcattat taagaggaga aattcctgac
     1501 ctgaacgata ttttagatcg agatgatcta acaattatga aaagagccat cttttcaact
     1561 cagcgacagt cattgccccc agtgaccacg cacaacatga ttgatgactc caccgacccc
     1621 atcctcagca ccattagacg gattggactt ttcaacaacc gcacagatag agtcaaggtg
     1681 attttgcacc cagagtttct atcctccacc agtcccttac tacccatgga ctatgaagag
     1741 tttgttagag gttgtcatct tggagtattt ccatcatact atgaaccctg gggttatact
     1801 ccagctgaat gcactgtgat gggtatcccc agtgtgacca cgaatctctc cgggtttggc
     1861 tgtttcatgc aggagcacgt ggctgatcct actgcttacg gtatttacat cgttgacagg
     1921 cggttccgtt ctccagatga ttcttgcaat cagctgacta agtttctcta tggattttgc
     1981 aaacagtcac gccgccaaag gattatccag aggaacagaa ctgagaggct ctcagatctt
     2041 ctggattgga gatacttagg cagatattac cagcatgcca gacacctgac attaagcaga
     2101 gcttttccag ataaattcca tgtggaacta acatcaccac caacgacaga aggatttaaa
     2161 tatcccaggc cttcctcagt accaccttct ccttcagggt ctcaggcctc cagtcctcag
     2221 agcagtgatg tggaagatga agtggaggat gagagatacg atgaggaaga ggaggctgaa
     2281 agggatcggt taaatatcaa gtcaccattt tcactgagcc acgttcctca tgggaagaaa
     2341 aagctgcatg gtgaatataa gaactgaatt ctacatgtgc tgcatgaaga gctaatttaa
     2401 aaaagcaaag taagactaat tatttaaaat aaaaatgcca caaatttcat tttctccttc
     2461 taagtattac aatggagttt attctctgcc taaaaagtgg aagaaattga gtgaatgaca
     2521 attttgtaat ttaggataag atccaagtta ttttccccaa ctcttgtttc ccccataaag
     2581 ttaggcatga ggaggagcac tcattaaagg cagaagacgg aaaagtgttt ttaaaatggt
     2641 gaatttaagt ggtaaggatt ttctcttact ctgtttattt ttaaatgatc atcataatcc
     2701 tttgcttact atttatgcag cttctctacc ccaccacaca aatttcccat ttcccccccg
     2761 aaaaccttga tcttacccat gaatgtgcac tacctacatt ttttaaatag ctaggttttt
     2821 actgattatt ttcatttttc acatgcatca gaaccatgat ttagatgtag ttttgcagag
     2881 acaaaaatcc atgagtgaat agctatccta agtccatatt ttgatgcata ttaatggaca
     2941 tttatgtcac ttttgaaatc tagaattgat gttgtaatta atgcaagata ttaccatgta
     3001 catggtacca ccatcttact gtaacatttt tctattgttt aaatagaaag cctttttaaa
     3061 atttggtcaa tcttcataga tgataacttg taaaatccaa gtaaataaac acattaatat
     3121 ttaataactt aactttcact ggtaatgcct tgtttcttca tagatgataa gttgttaaat
     3181 ccaagtaaat aaacacatta atattgaata acaa
//
