Human Gene G6PC2 (ENST00000375363.8_4) from GENCODE V47lift37
  Description: glucose-6-phosphatase catalytic subunit 2, transcript variant 1 (from RefSeq NM_021176.3)
Gencode Transcript: ENST00000375363.8_4
Gencode Gene: ENSG00000152254.11_7
Transcript (Including UTRs)
   Position: hg19 chr2:169,757,801-169,766,510 Size: 8,710 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr2:169,757,842-169,764,589 Size: 6,748 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:169,757,801-169,766,510)mRNA (may differ from genome)Protein (355 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: G6PC2_HUMAN
DESCRIPTION: RecName: Full=Glucose-6-phosphatase 2; Short=G-6-Pase 2; Short=G6Pase 2; EC=3.1.3.9; AltName: Full=Islet-specific glucose-6-phosphatase catalytic subunit-related protein;
FUNCTION: May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity).
CATALYTIC ACTIVITY: D-glucose 6-phosphate + H(2)O = D-glucose + phosphate.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=0.45 mM for glucose-6-phosphate (at pH 6.5);
PATHWAY: Carbohydrate biosynthesis; gluconeogenesis.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Specifically expressed in pancreas and also detected to a lower extent in testis. Expressed by most islet cells in the pancreas (at protein level).
PTM: N-glycosylated; the non-glycosylated form is more unstable and is degraded through the proteasome.
POLYMORPHISM: Genetic variations in G6PC2 define the fasting plasma glucose levels quantitative trait locus 1 (FGQTL1) [MIM: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.
SIMILARITY: Belongs to the glucose-6-phosphatase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: G6PC2
Diseases sorted by gene-association score: amelogenesis imperfecta, type iv (6), diabetes mellitus, insulin-dependent (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.74 RPKM in Pancreas
Total median expression: 6.57 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.4041-0.059 Picture PostScript Text
3' UTR -476.401921-0.248 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016275 - Glucose-6-phosphatase
IPR016118 - P_Acid_Pase/Cl_peroxidase_N
IPR000326 - P_Acid_Pase_2/haloperoxidase

Pfam Domains:
PF01569 - PAP2 superfamily

SCOP Domains:
48317 - Acid phosphatase/Vanadium-dependent haloperoxidase

ModBase Predicted Comparative 3D Structure on Q9NQR9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details  Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004346 glucose-6-phosphatase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006094 gluconeogenesis
GO:0016311 dephosphorylation
GO:0042593 glucose homeostasis
GO:0050796 regulation of insulin secretion
GO:0051156 glucose 6-phosphate metabolic process

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane


-  Descriptions from all associated GenBank mRNAs
  KJ894458 - Synthetic construct Homo sapiens clone ccsbBroadEn_03852 G6PC2 gene, encodes complete protein.
KR711574 - Synthetic construct Homo sapiens clone CCSBHm_00027138 G6PC2 (G6PC2) mRNA, encodes complete protein.
KR711575 - Synthetic construct Homo sapiens clone CCSBHm_00027139 G6PC2 (G6PC2) mRNA, encodes complete protein.
BC104778 - Homo sapiens glucose-6-phosphatase, catalytic, 2, mRNA (cDNA clone MGC:132438 IMAGE:8143781), complete cds.
BC113376 - Homo sapiens glucose-6-phosphatase, catalytic, 2, mRNA (cDNA clone MGC:141936 IMAGE:8322428), complete cds.
CR627438 - Homo sapiens mRNA; cDNA DKFZp781L0455 (from clone DKFZp781L0455).
HQ258182 - Synthetic construct Homo sapiens clone IMAGE:100072491 glucose-6-phosphatase, catalytic, 2 (G6PC2) gene, encodes complete protein.
AK310853 - Homo sapiens cDNA, FLJ17895.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY66-399 - gluconeogenesis

Reactome (by CSHL, EBI, and GO)

Protein Q9NQR9 (Reactome details) participates in the following event(s):

R-HSA-3266566 G6PC2 hydrolyzes glucose 6-phosphate to form glucose and orthophosphate (islet)
R-HSA-70263 Gluconeogenesis
R-HSA-70326 Glucose metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: E9PAX2, ENST00000375363.1, ENST00000375363.2, ENST00000375363.3, ENST00000375363.4, ENST00000375363.5, ENST00000375363.6, ENST00000375363.7, G6PC2_HUMAN, IGRP, NM_021176, Q6AHZ0, Q9NQR9, uc318mfg.1, uc318mfg.2
UCSC ID: ENST00000375363.8_4
RefSeq Accession: NM_021176.3
Protein: Q9NQR9 (aka G6PC2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.