LOCUS       NM_001079855            3192 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens glycogenin 2 (GYG2), transcript variant 1, mRNA.
ACCESSION   NM_001079855
VERSION     NM_001079855.2
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 3192)
  AUTHORS   Ham,M., Cho,Y., Kang,T.W., Oh,T., Kim,H.J. and Kim,K.H.
  TITLE     Transcriptome-wide analysis reveals GYG2 as a mitochondria-related
            aging biomarker in human subcutaneous adipose tissue
  JOURNAL   Aging Cell 23 (2), e14049 (2024)
   PUBMED   38062989
  REMARK    GeneRIF: Transcriptome-wide analysis reveals GYG2 as a
            mitochondria-related aging biomarker in human subcutaneous adipose
            tissue.
REFERENCE   2  (bases 1 to 3192)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3192)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3192)
  AUTHORS   Krag,T.O., Ruiz-Ruiz,C. and Vissing,J.
  TITLE     Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for
            Glycogenin 2 in Muscle
  JOURNAL   J Clin Endocrinol Metab 102 (8), 2690-2700 (2017)
   PUBMED   28453664
  REMARK    GeneRIF: Study demonstrates expression of glycogenin 2 in
            glycogenin 1-deficient patients, suggesting that glycogenin 2
            rescues the formation of glycogen in patients with glycogenin 1
            deficiency.
REFERENCE   5  (bases 1 to 3192)
  AUTHORS   Irgens,H.U., Fjeld,K., Johansson,B.B., Ringdal,M., Immervoll,H.,
            Leh,S., Sovik,O., Johansson,S., Molven,A. and Njolstad,P.R.
  TITLE     Glycogenin-2 is dispensable for liver glycogen synthesis and
            glucagon-stimulated glucose release
  JOURNAL   J Clin Endocrinol Metab 100 (5), E767-E775 (2015)
   PUBMED   25751106
  REMARK    GeneRIF: This is the first evaluation of humans without GN2
            expression. Our data indicate that GN2 is not required for liver
            glycogen synthesis and glucagon-stimulated glucose release.
REFERENCE   6  (bases 1 to 3192)
  AUTHORS   Zhai,L., Mu,J., Zong,H., DePaoli-Roach,A.A. and Roach,P.J.
  TITLE     Structure and chromosomal localization of the human glycogenin-2
            gene GYG2
  JOURNAL   Gene 242 (1-2), 229-235 (2000)
   PUBMED   10721716
REFERENCE   7  (bases 1 to 3192)
  AUTHORS   Mu,J. and Roach,P.J.
  TITLE     Characterization of human glycogenin-2, a self-glucosylating
            initiator of liver glycogen metabolism
  JOURNAL   J Biol Chem 273 (52), 34850-34856 (1998)
   PUBMED   9857012
REFERENCE   8  (bases 1 to 3192)
  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   9  (bases 1 to 3192)
  AUTHORS   Mu,J., Skurat,A.V. and Roach,P.J.
  TITLE     Glycogenin-2, a novel self-glucosylating protein involved in liver
            glycogen biosynthesis
  JOURNAL   J Biol Chem 272 (44), 27589-27597 (1997)
   PUBMED   9346895
  REMARK    Erratum:[J Biol Chem 2001 Apr 27;276(17):14532]
REFERENCE   10 (bases 1 to 3192)
  AUTHORS   Viskupic,E., Cao,Y., Zhang,W., Cheng,C., DePaoli-Roach,A.A. and
            Roach,P.J.
  TITLE     Rabbit skeletal muscle glycogenin. Molecular cloning and production
            of fully functional protein in Escherichia coli
  JOURNAL   J Biol Chem 267 (36), 25759-25763 (1992)
   PUBMED   1281472
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U94362.1, U94361.1, BC023152.1
            and CB410312.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001079855.1.
            
            Summary: This gene encodes a member of the the glycogenin family.
            Glycogenin is a self-glucosylating protein involved in the
            initiation reactions of glycogen biosynthesis. A gene on chromosome
            3 encodes the muscle glycogenin and this X-linked gene encodes the
            glycogenin mainly present in liver; both are involved in blood
            glucose homeostasis. This gene has a short version on chromosome Y,
            which is 3' truncated and can not make a functional protein.
            Multiple alternatively spliced transcript variants encoding
            different isoforms have been identified.[provided by RefSeq, May
            2010].
            
            Transcript Variant: This variant (1) lacks an in-frame exon in the
            CDS, as compared to variant 2. The resulting isoform (a) lacks an
            internal segment, as compared to isoform b.
            
            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 :: BC023152.1, SRR1803613.39759.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000398806.8/ ENSP00000381786.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-181               U94362.1           110-290
            182-889             U94362.1           384-1091
            890-1317            U94361.1           264-691
            1318-1924           U94362.1           1520-2126
            1925-2627           BC023152.1         1900-2602
            2628-3153           CB410312.1         31-556
            3154-3192           BC023152.1         3129-3167
FEATURES             Location/Qualifiers
     source          1..3192
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.33"
     gene            1..3192
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /note="glycogenin 2"
                     /db_xref="GeneID:8908"
                     /db_xref="HGNC:HGNC:4700"
                     /db_xref="MIM:300198"
     exon            1..46
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            47..181
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             175..1587
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /EC_number="2.4.1.186"
                     /note="isoform a is encoded by transcript variant 1;
                     glycogenin glucosyltransferase"
                     /codon_start=1
                     /product="glycogenin-2 isoform a"
                     /protein_id="NP_001073324.1"
                     /db_xref="CCDS:CCDS48074.1"
                     /db_xref="GeneID:8908"
                     /db_xref="HGNC:HGNC:4700"
                     /db_xref="MIM:300198"
                     /translation="MSVTDQAFVTLATNDIYCQGALVLGQSLRRHRLTRKLVVLITPQ
                     VSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKLHCWTLTHYSKCVF
                     LDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHKLLLQHAMEHGS
                     FDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSSAKVVHFLGS
                     MKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQAGEARASP
                     GHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPTQIVDE
                     TLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFTETETILQPANKVESVSS
                     EETFEPSQELPAEALRDPSLQDALEVDLAVSVSQISIEEKVKELSPEEERRKWEEGRI
                     DYMGKDAFARIQEKLDRFLQ"
     exon            182..323
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            324..498
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            499..661
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            662..788
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            789..1011
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1212
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1317
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1318..1425
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1426..3192
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3174..3179
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /note="hexamer: ATTAAA"
     polyA_site      3192
                     /gene="GYG2"
                     /gene_synonym="GN-2; GN2"
                     /note="major polyA site"
ORIGIN      
        1 gcctccagcg ccggctctgg gccgaggcag ccagagcgcg gaagaggcct ggaaatccac
       61 gcggattccc ggagacggcg cctctgctct gcgggttcgt ggcgaggaag tccacccact
      121 gctcccgggc gcaggtctgc aggtccgcgc ccactgcccg cggcgccact gaccatgtcg
      181 gtgactgatc aggcttttgt cacactagcc accaatgaca tctactgcca gggcgccctg
      241 gtcctggggc agtcactgag gagacacagg ctgacgagga agctggtggt gttgatcact
      301 cctcaggtgt ccagcctgct cagggtcatc ctctcgaagg tgttcgatga agtcattgaa
      361 gtgaatctaa tcgatagtgc cgactacatc cacctggcct ttctgaagag acctgagctc
      421 gggctcaccc tcaccaagct tcactgttgg actctcactc actacagcaa gtgtgtcttc
      481 ctggatgcag acactctggt gctgtccaat gtcgatgagc tgtttgacag gggagagttt
      541 tctgcggccc cggaccccgg atggccggat tgcttcaata gcggggtgtt tgtcttccag
      601 ccttctctcc acacgcataa actcctgcta cagcacgcca tggaacacgg cagctttgac
      661 ggggcagacc aaggcttact gaatagtttc ttcaggaact ggtcgaccac agacatccac
      721 aagcacctgc cgttcatcta taacttgagt agtaacacga tgtacactta cagccctgcc
      781 ttcaagcaat tcggttccag tgcaaaggtc gtccactttt tggggtccat gaaaccttgg
      841 aactacaagt acaatccaca gagtggctcg gtgttggagc aaggctcagc gtccagcagc
      901 cagcaccagg cggcattcct tcatctctgg tggacggtct accagaacaa cgtgctgccc
      961 ctttataaaa gcgtccaagc gggggaagca cgcgcgtctc ctggtcacac actttgccac
     1021 agtgatgtgg gggggccgtg tgcggattca gcctctggtg ttggagagcc gtgtgaaaat
     1081 tcaacaccca gtgcgggcgt gccgtgtgca aattcaccac tgggttctaa ccagcctgct
     1141 cagggccttc cggagccgac ccagatagtg gatgagaccc tgtccctacc tgaaggacgc
     1201 cgttcagaag atatgatagc ttgtcctgaa actgagactc ctgccgtgat aacgtgtgac
     1261 ccactgtccc agccttcccc tcagcctgca gacttcacag agactgaaac catcttgcag
     1321 ccagcaaata aagtcgaaag tgtctcatcc gaggaaacct tcgaaccaag ccaggaactc
     1381 cctgctgagg ctctcaggga ccccagtctg caggatgcac tggaggtcga cctggccgtc
     1441 tctgtttccc agatctccat cgaagagaag gtgaaggaat tgagccccga ggaagagagg
     1501 aggaagtggg aggaaggccg tatcgactac atggggaagg acgcgtttgc tcgcatccag
     1561 gagaagctgg accggttcct gcagtaatcc ggcagctggt gggcgttgtg tgtagttaga
     1621 caatgtcctg ttgggtggtc ctgttgcgtg gagatctcct ctggtccttt caaagggaaa
     1681 cgctgttgaa ccttgtgcct ctatttatgc ttaatccatt tgagtgcctc acacaaaaaa
     1741 cgtagagtat agaaatccac cttaaagccc ctcgccccaa cttctccacc aacgccttct
     1801 gggctttctt cagaggtcac ttctaccctt gaagctgtcg gcaaaagcga gcagtaataa
     1861 cattctagta gactctcgat ggtggtctcc gctcttgccc gaaggacctc tgaagtacgc
     1921 tggagctgtg ttgtacaggt gctgtgagac ctaccctatt cagaattaaa cctcactgca
     1981 aatttcctcc catcacgaag ctaacaacac taatatacgt atttagcacc tctgaggctt
     2041 tgccatggag acccatttct gtagggctaa ggaaacattt agacgtggtg actgactttc
     2101 atttggactt ggcgaagtgt atctgagaaa cacctcggct gtggtctctc tgctttaaat
     2161 cctaacagga cttcctagag cgttgacaga aattctactc gtggacgttg ggaagaaaga
     2221 ttgtaggtgg cttggggaat gtgggtggct tagaggatct aaaccgattc acttcctggt
     2281 tgagaagcaa cgagggcttg ctctaaatcg tttagaggat aacaggatct agagatgctc
     2341 tctgcttgac aacaaaagtc agggtgcagt cggtccaccc ttgactgctc ttggcttggt
     2401 ctctaccctc actacctcag ttctcaataa cttagtgaat cactgccctc ctcaaagcca
     2461 tttccactca gctctttcca gagaattctc agttttatga gacgggaaac tttatttcac
     2521 gagaaagcct cattgtcaga agtatcttca ttcaatgggc acaatatgct gtgtatctca
     2581 ccaggtagct gtcaggggcc accgagagtg tcgttaaaaa tgggcatggt tgtaataaag
     2641 gaggaaagtg cgacttttga aatgtttgga aggtttattt ctcatgcaca ttccagggaa
     2701 aagcagagag taaattagag acgggatagg aaggccgtgg gagaactcga tcctagcctg
     2761 tgtcagctgg atgtgtttac gtggagaggc gtggccactt tttaggtcac ctgaagcagt
     2821 ttagcctttg gatagaggaa cctgcctgaa tttatggcat tagtggtggc atttttttgt
     2881 gtacaagatg tgggtgatgg aggggctgtt tctttttccg tgtgggtggt taataatcgt
     2941 cagtctcgga gggcgaggct cgtaggatat ttcaggtgag tcagggttgg atggtcatcg
     3001 gctttcagaa ggagaccacg ggaatgttca gggaaacaat gtcagcttct ctgaggacca
     3061 gaattcatgt tcacgggcag tgatgagttg gcttatggag tgagtccagt ctggaattcc
     3121 gccgtgcatt ctagcctgta tcatctcatt tggacaaatg ctggcacgtt gaaattaaaa
     3181 tgttaaaaaa ca
//
