LOCUS       NM_021176               3030 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens glucose-6-phosphatase catalytic subunit 2 (G6PC2),
            transcript variant 1, mRNA.
ACCESSION   NM_021176
VERSION     NM_021176.3
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 3030)
  AUTHORS   Martin,C.C., Oeser,J.K., Wangmo,T., Flemming,B.P., Attie,A.D.,
            Keller,M.P. and O'Brien,R.M.
  TITLE     Multiple promoter and enhancer differences likely contribute to
            augmented G6PC2 expression in human versus mouse pancreatic islet
            alpha cells
  JOURNAL   J Mol Endocrinol 73 (3), e240051 (2024)
   PUBMED   39121091
  REMARK    GeneRIF: Multiple promoter and enhancer differences likely
            contribute to augmented G6PC2 expression in human versus mouse
            pancreatic islet alpha cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3030)
  AUTHORS   Hawes,E.M., Claxton,D.P., Oeser,J.K. and O'Brien,R.M.
  TITLE     Identification of structural motifs critical for human G6PC2
            function informed by sequence analysis and an AlphaFold2-predicted
            model
  JOURNAL   Biosci Rep 44 (1) (2024)
   PUBMED   38095063
  REMARK    GeneRIF: Identification of structural motifs critical for human
            G6PC2 function informed by sequence analysis and an
            AlphaFold2-predicted model.
REFERENCE   3  (bases 1 to 3030)
  AUTHORS   Hawes,E.M., Boortz,K.A., Oeser,J.K., O'Rourke,M.L. and O'Brien,R.M.
  TITLE     G6PC1 and G6PC2 influence G6P flux but not HSD11B1 activity
  JOURNAL   J Mol Endocrinol 71 (4), e230070 (2023)
   PUBMED   37855366
  REMARK    GeneRIF: G6PC1 and G6PC2 influence G6P flux but not HSD11B1
            activity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3030)
  AUTHORS   Chen,G., Shriner,D., Zhang,J., Zhou,J., Adikaram,P., Doumatey,A.P.,
            Bentley,A.R., Adeyemo,A. and Rotimi,C.N.
  TITLE     Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on
            fasting glucose levels and risk of type 2 diabetes
  JOURNAL   PLoS One 17 (6), e0269378 (2022)
   PUBMED   35657990
  REMARK    GeneRIF: Additive genetic effect of GCKR, G6PC2, and SLC30A8
            variants on fasting glucose levels and risk of type 2 diabetes.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3030)
  AUTHORS   Udhaya Kumar,S., Kamaraj,B., Varghese,R.P., Preethi,V.A., Bithia,R.
            and George Priya Doss,C.
  TITLE     Mutations in G6PC2 gene with increased risk for development of type
            2 diabetes: Understanding via computational approach
  JOURNAL   Adv Protein Chem Struct Biol 130, 351-373 (2022)
   PUBMED   35534112
  REMARK    GeneRIF: Mutations in G6PC2 gene with increased risk for
            development of type 2 diabetes: Understanding via computational
            approach.
REFERENCE   6  (bases 1 to 3030)
  AUTHORS   Shieh,J.J., Pan,C.J., Mansfield,B.C. and Chou,J.Y.
  TITLE     In islet-specific glucose-6-phosphatase-related protein, the beta
            cell antigenic sequence that is targeted in diabetes is not
            responsible for the loss of phosphohydrolase activity
  JOURNAL   Diabetologia 48 (9), 1851-1859 (2005)
   PUBMED   16012821
  REMARK    GeneRIF: Alpha mutants containing the beta cell antigen sequence
            are preferentially degraded in cells, which prevents targeting by
            pathogenic CD8+ T cells implying that IGRP levels in beta cells
            could dictate susceptibilities to diabetes.
REFERENCE   7  (bases 1 to 3030)
  AUTHORS   Petrolonis,A.J., Yang,Q., Tummino,P.J., Fish,S.M., Prack,A.E.,
            Jain,S., Parsons,T.F., Li,P., Dales,N.A., Ge,L., Langston,S.P.,
            Schuller,A.G., An,W.F., Tartaglia,L.A., Chen,H. and Hong,S.B.
  TITLE     Enzymatic characterization of the pancreatic islet-specific
            glucose-6-phosphatase-related protein (IGRP)
  JOURNAL   J Biol Chem 279 (14), 13976-13983 (2004)
   PUBMED   14722102
  REMARK    GeneRIF: IGRP is likely the authentic islet-specific
            glucose-6-phosphatase catalytic subunit, and selective inhibitors
            to this molecule can be obtained
REFERENCE   8  (bases 1 to 3030)
  AUTHORS   Shieh,J.J., Pan,C.J., Mansfield,B.C. and Chou,J.Y.
  TITLE     The islet-specific glucose-6-phosphatase-related protein,
            implicated in diabetes, is a glycoprotein embedded in the
            endoplasmic reticulum membrane
  JOURNAL   FEBS Lett 562 (1-3), 160-164 (2004)
   PUBMED   15044018
  REMARK    GeneRIF: Data show that islet-specific
            glucose-6-phosphatase-related protein is an endoplasmic reticulum
            membrane glycoprotein, and is degraded through the proteasome
            pathway that generates the major histocompatibility complex class
            I-presented peptides.
REFERENCE   9  (bases 1 to 3030)
  AUTHORS   Lieberman,S.M., Evans,A.M., Han,B., Takaki,T., Vinnitskaya,Y.,
            Caldwell,J.A., Serreze,D.V., Shabanowitz,J., Hunt,D.F.,
            Nathenson,S.G., Santamaria,P. and DiLorenzo,T.P.
  TITLE     Identification of the beta cell antigen targeted by a prevalent
            population of pathogenic CD8+ T cells in autoimmune diabetes
  JOURNAL   Proc Natl Acad Sci U S A 100 (14), 8384-8388 (2003)
   PUBMED   12815107
REFERENCE   10 (bases 1 to 3030)
  AUTHORS   Martin,C.C., Bischof,L.J., Bergman,B., Hornbuckle,L.A.,
            Hilliker,C., Frigeri,C., Wahl,D., Svitek,C.A., Wong,R.,
            Goldman,J.K., Oeser,J.K., Lepretre,F., Froguel,P., O'Brien,R.M. and
            Hutton,J.C.
  TITLE     Cloning and characterization of the human and rat islet-specific
            glucose-6-phosphatase catalytic subunit-related protein (IGRP)
            genes
  JOURNAL   J Biol Chem 276 (27), 25197-25207 (2001)
   PUBMED   11297555
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC104778.1, CR627438.1,
            AC069137.6 and CA865646.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_021176.2.
            
            Summary: This gene encodes an enzyme belonging to the
            glucose-6-phosphatase catalytic subunit family. These enzymes are
            part of a multicomponent integral membrane system that catalyzes
            the hydrolysis of glucose-6-phosphate, the terminal step in
            gluconeogenic and glycogenolytic pathways, allowing the release of
            glucose into the bloodstream. The family member encoded by this
            gene is found in pancreatic islets and does not exhibit
            phosphohydrolase activity, but it is a major target of
            cell-mediated autoimmunity in diabetes. Several alternatively
            spliced transcript variants of this gene have been described, but
            their biological validity has not been determined. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (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 :: BC113376.1, CA772726.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2151405
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375363.8/ ENSP00000364512.3
            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
            1-1163              BC104778.1         52-1214
            1164-1281           CR627438.1         1057-1174
            1282-3025           CR627438.1         1176-2919
            3026-3027           AC069137.6         79634-79635
            3028-3030           CA865646.1         16-18               c
FEATURES             Location/Qualifiers
     source          1..3030
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..3030
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /note="glucose-6-phosphatase catalytic subunit 2"
                     /db_xref="GeneID:57818"
                     /db_xref="HGNC:HGNC:28906"
                     /db_xref="MIM:608058"
     exon            1..259
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..1109
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /EC_number="3.1.3.9"
                     /note="isoform 1 is encoded by transcript variant 1;
                     islet-specific glucose-6-phosphatase catalytic
                     subunit-related protein; islet-specific G6CP-related
                     protein; islet-specific glucose-6-phosphatase-related
                     protein; glucose-6-phosphatase 2; G6Pase 2; G-6-Pase 2;
                     glucose-6-phosphatase, catalytic, 2"
                     /codon_start=1
                     /product="glucose-6-phosphatase 2 isoform 1"
                     /protein_id="NP_066999.1"
                     /db_xref="CCDS:CCDS2230.1"
                     /db_xref="GeneID:57818"
                     /db_xref="HGNC:HGNC:28906"
                     /db_xref="MIM:608058"
                     /translation="MDFLHRNGVLIIQHLQKDYRAYYTFLNFMSNVGDPRNIFFIYFP
                     LCFQFNQTVGTKMIWVAVIGDWLNLIFKWILFGHRPYWWVQETQIYPNHSSPCLEQFP
                     TTCETGPGSPSGHAMGASCVWYVMVTAALSHTVCGMDKFSITLHRLTWSFLWSVFWLI
                     QISVCISRVFIATHFPHQVILGVIGGMLVAEAFEHTPGIQTASLGTYLKTNLFLFLFA
                     VGFYLLLRVLNIDLLWSVPIAKKWCANPDWIHIDTTPFAGLVRNLGVLFGLGFAINSE
                     MFLLSCRGGNNYTLSFRLLCALTSLTILQLYHFLQIPTHEEHLFYVLSFCKSASIPLT
                     VVAFIPYSVHMLMKQSGKKSQ"
     exon            260..369
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            370..481
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            482..597
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /inference="alignment:Splign:2.1.0"
     exon            598..3030
                     /gene="G6PC2"
                     /gene_synonym="IGRP"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agctccaatt gctctatgtt tagaattgcc tctttttcaa gatggatttc cttcacagga
       61 atggagtgct cataattcag catttgcaga aggactaccg agcttactac acttttctaa
      121 attttatgtc caatgttgga gaccccagga atatcttttt catttatttt ccactttgtt
      181 ttcaatttaa tcagacagtt ggaaccaaga tgatatgggt agcagtcatt ggggattggt
      241 taaatcttat atttaaatgg atattatttg gtcatcgacc ttactggtgg gtccaagaaa
      301 ctcagattta cccaaatcac tcaagtccat gccttgaaca gttccctact acatgtgaaa
      361 caggtccagg aagtccatct ggccatgcaa tgggcgcatc ctgtgtctgg tatgtcatgg
      421 taaccgctgc cctgagccac actgtctgtg ggatggataa gttctctatc actctgcaca
      481 gactgacctg gtcatttctt tggagtgttt tttggttgat tcaaatcagt gtctgcatct
      541 ccagagtatt catagcaaca cattttcctc atcaagttat tcttggagta attggtggca
      601 tgctggtggc agaggccttt gaacacactc caggcatcca aacggccagt ctgggcacat
      661 acctgaagac caacctcttt ctcttcctgt ttgcagttgg cttttacctg cttcttaggg
      721 tgctcaacat tgacctgctg tggtccgtgc ccatagccaa aaagtggtgt gctaaccccg
      781 actggatcca cattgacacc acgccttttg ctggactcgt gagaaacctt ggggtcctct
      841 ttggcttggg ctttgcaatc aactcagaga tgttcctcct gagctgccga gggggaaata
      901 actacacact gagcttccgg ttgctctgtg ccttgacctc attgacaata ctgcagctct
      961 accatttcct ccagatcccg actcacgaag agcatttatt ttatgtgctg tctttttgta
     1021 aaagtgcatc cattccccta actgtggttg ctttcattcc ctactctgtt catatgttaa
     1081 tgaaacaaag cggaaagaag agtcagtaga gtggtgccta gagttagtgc tctgtgtcac
     1141 agatcaccct tctccatcca ccagtagagc cacagagtag gcacagacca gaggcttcta
     1201 atccgacttc acagaatagc ggcacaggcc ccattcccca tagagatgtt tagtttggcc
     1261 ttcgcactgg tctttttttt taatccttca gttaccaata tttagataca agaatatttg
     1321 acataaaaat cggaagttct gtatttcttg aaaaatctga tagtatgaca acacagagcc
     1381 tgcatcccca gctggagaca actgaccaga gctgcatact aacagtcccc agtaggaggc
     1441 aaggactcca ttttctcaca gtcttcagca tcccagcagg agccccacta tgattccttt
     1501 atcttcttaa ggccaggctg catctgattc ctgttgacat tttagtgggg accacagcca
     1561 tatccagttt cagttttcag atgaggaaat ggaagcctat ttaggtaaaa gaacttgcct
     1621 ggagtcacgc caccttcaga gcaggaatta gaacccaagg cttctgacac atatccccat
     1681 tacactgtgt gtttgagtgt gcacacatgc acatgctttt tgtttgtatg tttccttttt
     1741 agaaccaggg acttgctctg ttgcccaggc tggagtgcag tggtggatag cggctcactg
     1801 cagcctcaaa ctcctggctc aaatgatcct ccctcctcag cctcccatta gctaagacta
     1861 caggtgtgca ccaccatgcc tggctaattt ttgaatattt tttagagcca gcttcttact
     1921 atatttgccc aggctggtct tgaactcctg gcctcaagga gttcccttga ggatgttcca
     1981 cccatgtcag cctcccacag tgctgggatt gcaggcttga gccattgtat taatagttgg
     2041 cctacactgt cttttgtttc ttcatttaca agaggtaaaa atcagtaaga atgaatgctt
     2101 tcatttagat tctatgatga ctgccatata aatcagctac cttttcagaa atgacattga
     2161 aatactgcat cctctttgac ttatacccca cacatacatg cagggtctag gtgggaccaa
     2221 cagtggctcc agatgtatat acacacgggt ccagggacaa cagaacaggc caggctacag
     2281 tatggacttg aacctctgct tcacttctgg tctctgtttt acagtagtgc tcaccaatat
     2341 ttcaataaat tctactgaac ttactctaat agaacattat tcaaccccca aagacttatc
     2401 tcttcactat gacatctcca tactttattt ttaggagaca gactttcaaa accagagaaa
     2461 tcaggtgcct tcctcaaggt catgctccaa cccaggccaa ctattaaatg cttgcatctg
     2521 ttagctggat tagtctctat gtatactgaa ctgtgatgaa aatctatagc tttgttttag
     2581 aaaattattg ttgatggact attaatatta tattaacaat ttctcagtaa gtgtgttttt
     2641 tcctcattga atctaggaat gctgggcttt aagttgataa ctgtgtcatt tcaatcaagt
     2701 acaaggattt tgaggcagat tttgctagat atcttagtaa tcccccacaa tgttttatgt
     2761 aactcttctc agaatatcaa tacattaatt attttagatg acatattaaa taatctatga
     2821 atattaatga aaacaataca gttgaagtga gtgttgttta acatgatagt agctgaggat
     2881 aacaaacctc aaaaaatcaa agtattaatt actcctttcc aagtatatgt atagagcatg
     2941 tgtcattgct tttataaaac gcacttaata gctttctttc taaaaggcaa ctgaactttc
     3001 taaaaggtaa ataaactgaa cttgatatta
//
