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Q9NQR9

- G6PC2_HUMAN

UniProt

Q9NQR9 - G6PC2_HUMAN

Protein

Glucose-6-phosphatase 2

Gene

G6PC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 99 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis By similarity.By similarity

    Catalytic activityi

    D-glucose 6-phosphate + H2O = D-glucose + phosphate.1 Publication

    Kineticsi

    1. KM=0.45 mM for glucose-6-phosphate (at pH 6.5)

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei79 – 791SubstrateSequence Analysis
    Active sitei115 – 1151Proton donorSequence Analysis
    Binding sitei168 – 1681SubstrateSequence Analysis
    Active sitei174 – 1741NucleophileBy similarity

    GO - Molecular functioni

    1. glucose-6-phosphatase activity Source: UniProtKB-EC

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. gluconeogenesis Source: UniProtKB-UniPathway
    3. glucose homeostasis Source: BHF-UCL
    4. glucose transport Source: Reactome
    5. hexose transport Source: Reactome
    6. regulation of insulin secretion Source: BHF-UCL
    7. small molecule metabolic process Source: Reactome
    8. transmembrane transport Source: Reactome

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Gluconeogenesis

    Enzyme and pathway databases

    BioCyciMetaCyc:HS14422-MONOMER.
    ReactomeiREACT_212. Glucose transport.
    SABIO-RKQ9NQR9.
    UniPathwayiUPA00138.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Glucose-6-phosphatase 2 (EC:3.1.3.9)
    Short name:
    G-6-Pase 2
    Short name:
    G6Pase 2
    Alternative name(s):
    Islet-specific glucose-6-phosphatase catalytic subunit-related protein
    Gene namesi
    Name:G6PC2
    Synonyms:IGRP
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:28906. G6PC2.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: Reactome
    2. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi50 – 501N → A: No effect on N-glycosylation. 1 Publication
    Mutagenesisi92 – 921N → A: Loss of N-glycosylation. 1 Publication
    Mutagenesisi287 – 2871N → A: No effect on N-glycosylation. 1 Publication

    Organism-specific databases

    MIMi612108. phenotype.
    PharmGKBiPA134944773.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 355355Glucose-6-phosphatase 2PRO_0000334509Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi92 – 921N-linked (GlcNAc...)1 Publication

    Post-translational modificationi

    N-glycosylated; the non-glycosylated form is more unstable and is degraded through the proteasome.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9NQR9.
    PRIDEiQ9NQR9.

    Expressioni

    Tissue specificityi

    Specifically expressed in pancreas and also detected to a lower extent in testis. Expressed by most islet cells in the pancreas (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ9NQR9.
    BgeeiQ9NQR9.
    CleanExiHS_G6PC2.
    GenevestigatoriQ9NQR9.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000364512.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NQR9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2424LumenalSequence AnalysisAdd
    BLAST
    Topological domaini46 – 5611CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini78 – 11538LumenalSequence AnalysisAdd
    BLAST
    Topological domaini137 – 14610CytoplasmicSequence Analysis
    Topological domaini168 – 1681LumenalSequence Analysis
    Topological domaini190 – 21122CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini233 – 26129LumenalSequence AnalysisAdd
    BLAST
    Topological domaini283 – 29311CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini315 – 3184LumenalSequence Analysis
    Topological domaini340 – 35516CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei25 – 4521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei57 – 7721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei116 – 13621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei147 – 16721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei169 – 18921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei212 – 23221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei262 – 28221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei294 – 31421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei319 – 33921HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi352 – 3554Prevents secretion from ERSequence Analysis

    Sequence similaritiesi

    Belongs to the glucose-6-phosphatase family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG82628.
    HOGENOMiHOG000264239.
    HOVERGENiHBG003560.
    InParanoidiQ9NQR9.
    KOiK01084.
    OMAiLIQISVC.
    PhylomeDBiQ9NQR9.
    TreeFamiTF324388.

    Family and domain databases

    Gene3Di1.20.144.10. 1 hit.
    InterProiIPR016275. Glucose-6-phosphatase.
    IPR000326. P_Acid_Pase_2/haloperoxidase.
    [Graphical view]
    PfamiPF01569. PAP2. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000905. Glucose-6-phosphatase. 1 hit.
    SMARTiSM00014. acidPPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF48317. SSF48317. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9NQR9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MDFLHRNGVL IIQHLQKDYR AYYTFLNFMS NVGDPRNIFF IYFPLCFQFN    50
    QTVGTKMIWV AVIGDWLNLI FKWILFGHRP YWWVQETQIY PNHSSPCLEQ 100
    FPTTCETGPG SPSGHAMGAS CVWYVMVTAA LSHTVCGMDK FSITLHRLTW 150
    SFLWSVFWLI QISVCISRVF IATHFPHQVI LGVIGGMLVA EAFEHTPGIQ 200
    TASLGTYLKT NLFLFLFAVG FYLLLRVLNI DLLWSVPIAK KWCANPDWIH 250
    IDTTPFAGLV RNLGVLFGLG FAINSEMFLL SCRGGNNYTL SFRLLCALTS 300
    LTILQLYHFL QIPTHEEHLF YVLSFCKSAS IPLTVVAFIP YSVHMLMKQS 350
    GKKSQ 355
    Length:355
    Mass (Da):40,580
    Last modified:October 1, 2000 - v1
    Checksum:iD642C37496B6C4EB
    GO
    Isoform 2 (identifier: Q9NQR9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         74-102: ILFGHRPYWWVQETQIYPNHSSPCLEQFP → KSIWPCNGRILCLVCHGNRCPEPHCLWDG
         103-355: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:102
    Mass (Da):12,160
    Checksum:i45E36A48F44C0C93
    GO
    Isoform 3 (identifier: Q9NQR9-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         148-154: LTWSFLW → HAGGRGL
         155-355: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:154
    Mass (Da):17,757
    Checksum:i7203B17AA6D4CF40
    GO

    Polymorphismi

    Genetic variations in G6PC2 define the fasting plasma glucose levels quantitative trait locus 1 (FGQTL1) [MIMi:612108]. The normal fasting plasma glucose level in the plasma is defined as less than 100 mg per deciliter (5.55 mmol per liter). Higher fasting plasma glucose levels predict type 2 diabetes in young adults and increases the risk of mortality.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti171 – 1711I → V.
    Corresponds to variant rs2232322 [ dbSNP | Ensembl ].
    VAR_043372
    Natural varianti207 – 2071Y → S.
    Corresponds to variant rs2232323 [ dbSNP | Ensembl ].
    VAR_043373
    Natural varianti219 – 2191V → L.
    Corresponds to variant rs492594 [ dbSNP | Ensembl ].
    VAR_043374
    Natural varianti324 – 3241S → P.
    Corresponds to variant rs2232326 [ dbSNP | Ensembl ].
    VAR_043375
    Natural varianti340 – 3401P → L.
    Corresponds to variant rs2232327 [ dbSNP | Ensembl ].
    VAR_043376
    Natural varianti342 – 3421S → C.
    Corresponds to variant rs2232328 [ dbSNP | Ensembl ].
    VAR_043377

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei74 – 10229ILFGH…LEQFP → KSIWPCNGRILCLVCHGNRC PEPHCLWDG in isoform 2. 1 PublicationVSP_033648Add
    BLAST
    Alternative sequencei103 – 355253Missing in isoform 2. 1 PublicationVSP_033649Add
    BLAST
    Alternative sequencei148 – 1547LTWSFLW → HAGGRGL in isoform 3. 1 PublicationVSP_046180
    Alternative sequencei155 – 355201Missing in isoform 3. 1 PublicationVSP_046181Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF283835 Genomic DNA. Translation: AAF82810.1.
    BQ777188 mRNA. No translation available.
    CR627438 mRNA. Translation: CAH10524.1.
    AC069137 Genomic DNA. No translation available.
    CH471058 Genomic DNA. Translation: EAX11291.1.
    BC104778 mRNA. Translation: AAI04779.1.
    BC113376 mRNA. Translation: AAI13377.1.
    CCDSiCCDS2230.1. [Q9NQR9-1]
    CCDS46443.1. [Q9NQR9-3]
    RefSeqiNP_001075155.1. NM_001081686.1. [Q9NQR9-3]
    NP_066999.1. NM_021176.2. [Q9NQR9-1]
    UniGeneiHs.283963.

    Genome annotation databases

    EnsembliENST00000282075; ENSP00000282075; ENSG00000152254. [Q9NQR9-2]
    ENST00000375363; ENSP00000364512; ENSG00000152254. [Q9NQR9-1]
    ENST00000429379; ENSP00000396939; ENSG00000152254. [Q9NQR9-3]
    GeneIDi57818.
    KEGGihsa:57818.
    UCSCiuc002uem.3. human. [Q9NQR9-1]
    uc002uen.3. human.

    Polymorphism databases

    DMDMi74725272.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF283835 Genomic DNA. Translation: AAF82810.1 .
    BQ777188 mRNA. No translation available.
    CR627438 mRNA. Translation: CAH10524.1 .
    AC069137 Genomic DNA. No translation available.
    CH471058 Genomic DNA. Translation: EAX11291.1 .
    BC104778 mRNA. Translation: AAI04779.1 .
    BC113376 mRNA. Translation: AAI13377.1 .
    CCDSi CCDS2230.1. [Q9NQR9-1 ]
    CCDS46443.1. [Q9NQR9-3 ]
    RefSeqi NP_001075155.1. NM_001081686.1. [Q9NQR9-3 ]
    NP_066999.1. NM_021176.2. [Q9NQR9-1 ]
    UniGenei Hs.283963.

    3D structure databases

    ProteinModelPortali Q9NQR9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000364512.

    Polymorphism databases

    DMDMi 74725272.

    Proteomic databases

    PaxDbi Q9NQR9.
    PRIDEi Q9NQR9.

    Protocols and materials databases

    DNASUi 57818.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000282075 ; ENSP00000282075 ; ENSG00000152254 . [Q9NQR9-2 ]
    ENST00000375363 ; ENSP00000364512 ; ENSG00000152254 . [Q9NQR9-1 ]
    ENST00000429379 ; ENSP00000396939 ; ENSG00000152254 . [Q9NQR9-3 ]
    GeneIDi 57818.
    KEGGi hsa:57818.
    UCSCi uc002uem.3. human. [Q9NQR9-1 ]
    uc002uen.3. human.

    Organism-specific databases

    CTDi 57818.
    GeneCardsi GC02P169757.
    HGNCi HGNC:28906. G6PC2.
    MIMi 608058. gene.
    612108. phenotype.
    neXtProti NX_Q9NQR9.
    PharmGKBi PA134944773.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG82628.
    HOGENOMi HOG000264239.
    HOVERGENi HBG003560.
    InParanoidi Q9NQR9.
    KOi K01084.
    OMAi LIQISVC.
    PhylomeDBi Q9NQR9.
    TreeFami TF324388.

    Enzyme and pathway databases

    UniPathwayi UPA00138 .
    BioCyci MetaCyc:HS14422-MONOMER.
    Reactomei REACT_212. Glucose transport.
    SABIO-RK Q9NQR9.

    Miscellaneous databases

    GeneWikii G6PC2.
    GenomeRNAii 57818.
    NextBioi 64766.
    PROi Q9NQR9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NQR9.
    Bgeei Q9NQR9.
    CleanExi HS_G6PC2.
    Genevestigatori Q9NQR9.

    Family and domain databases

    Gene3Di 1.20.144.10. 1 hit.
    InterProi IPR016275. Glucose-6-phosphatase.
    IPR000326. P_Acid_Pase_2/haloperoxidase.
    [Graphical view ]
    Pfami PF01569. PAP2. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000905. Glucose-6-phosphatase. 1 hit.
    SMARTi SM00014. acidPPc. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48317. SSF48317. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes."
      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., Hutton J.C.
      J. Biol. Chem. 276:25197-25207(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], CHARACTERIZATION, TISSUE SPECIFICITY.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Pancreas.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Retina.
    4. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Cerebellum.
    7. "The islet-specific glucose-6-phosphatase-related protein, implicated in diabetes, is a glycoprotein embedded in the endoplasmic reticulum membrane."
      Shieh J.-J., Pan C.-J., Mansfield B.C., Chou J.Y.
      FEBS Lett. 562:160-164(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TOPOLOGY, MUTAGENESIS OF ASN-50; ASN-92 AND ASN-287, GLYCOSYLATION AT ASN-92.
    8. "Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP)."
      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.P., An W.F., Tartaglia L.A., Chen H., Hong S.-B.
      J. Biol. Chem. 279:13976-13983(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: CATALYTIC ACTIVITY.
    9. "Alternative splicing of G6PC2, the gene coding for the islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP), results in differential expression in human thymus and spleen compared with pancreas."
      Dogra R.S., Vaidyanathan P., Prabakar K.R., Marshall K.E., Hutton J.C., Pugliese A.
      Diabetologia 49:953-957(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING.
    10. Cited for: INVOLVEMENT IN FGQTL1.

    Entry informationi

    Entry nameiG6PC2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NQR9
    Secondary accession number(s): E9PAX2, Q6AHZ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 20, 2008
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3