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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GRHPR Gene

protein-coding   GIFtS: 67
GCID: GC09P037412

Glyoxylate Reductase/Hydroxypyruvate Reductase


(Previous symbol: GLXR)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glyoxylate Reductase/Hydroxypyruvate Reductase1 2     PH22
GLXR1 2 3 5     glycerate-2-dehydrogenase2
Primary Hyperoxaluria Type 21     EC 1.1.1.793
GLYD2     EC 1.1.1.813

External Ids:    HGNC: 45701   Entrez Gene: 93802   Ensembl: ENSG000001371067   OMIM: 6042965   UniProtKB: Q9UBQ73   

Export aliases for GRHPR gene to outside databases

Previous GC identifers: GC09P037734 GC09P037592


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GRHPR Gene:
This gene encodes an enzyme with hydroxypyruvate reductase, glyoxylate reductase, and D-glycerate dehydrogenase
enzymatic activities. The enzyme has widespread tissue expression and has a role in metabolism. Type II
hyperoxaluria is caused by mutations in this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GRHPR Gene: 
GRHPR (glyoxylate reductase/hydroxypyruvate reductase) is a protein-coding gene. Diseases associated with GRHPR include primary hyperoxaluria type 2, and primary hyperoxaluria, and among its related super-pathways are Metabolic pathways and glycine biosynthesis III. GO annotations related to this gene include protein homodimerization activity and NADPH binding.

UniProtKB/Swiss-Prot: GRHPR_HUMAN, Q9UBQ7
Function: Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic
activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to
hydroxypyruvate

Gene Wiki entry for GRHPR Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008413.18  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GRHPR gene promoter:
         GR   AML1a   GR-beta   Arnt   Meis-1b   COMP1   GR-alpha   Meis-1a   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGRHPR promoter sequence
   Search SABiosciences Chromatin IP Primers for GRHPR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GRHPR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q12   Ensembl cytogenetic band:  9p13.2   HGNC cytogenetic band: 9q12

GRHPR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GRHPR gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P037412:  view genomic region     (about GC identifiers)

Start:
37,422,663 bp from pter      End:
37,436,987 bp from pter
Size:
14,325 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GRHPR_HUMAN, Q9UBQ7 (See protein sequence)
Recommended Name: Glyoxylate reductase/hydroxypyruvate reductase  
Size: 328 amino acids; 35668 Da
Subunit: Homodimer
Sequence caution: Sequence=AAD54066.1; Type=Frameshift; Positions=109, 137; Sequence=AAG39286.1; Type=Frameshift;
Positions=237;
4 PDB 3D structures from and Proteopedia for GRHPR:
2GCG (3D)        2H1S (3D)        2Q50 (3D)        2WWR (3D)    
Secondary accessions: Q5T945 Q9H3E9 Q9UKX1

Explore the universe of human proteins at neXtProt for GRHPR: NX_Q9UBQ7

Explore proteomics data for GRHPR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBQ7

  • GRHPR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GRHPR Protein Expression
    REFSEQ proteins: NP_036335.1  
    ENSEMBL proteins: 
     ENSP00000313432   ENSP00000475569   ENSP00000432021  
    Reactome Protein details: Q9UBQ7
    Human Recombinant Protein Products for GRHPR: 
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    Novus Biologicals GRHPR Proteins
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    Cloud-Clone Corp. Proteins for GRHPR 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005782peroxisomal matrix TAS--

    GRHPR for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GRHPR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006140 D-isomer_2_OHA_DH_NAD-bd
     IPR006139 D-isomer_2_OHA_DH_cat_dom
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q9UBQ7

    ProtoNet protein and cluster: Q9UBQ7

    1 Blocks protein domain: IPB006139 D-isomer specific 2-hydroxyacid dehydrogenase

    UniProtKB/Swiss-Prot: GRHPR_HUMAN, Q9UBQ7
    Similarity: Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family


    GRHPR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GRHPR_HUMAN, Q9UBQ7
    Function: Enzyme with hydroxy-pyruvate reductase, glyoxylate reductase and D-glycerate dehydrogenase enzymatic
    activities. Reduces hydroxypyruvate to D-glycerate, glyoxylate to glycolate oxidizes D-glycerate to
    hydroxypyruvate
    Catalytic activity: Glycolate + NADP(+) = glyoxylate + NADPH
    Catalytic activity: D-glycerate + NAD(P)(+) = hydroxypyruvate + NAD(P)H

         Genatlas biochemistry entry for GRHPR:
    glyoxylate reductase/hydroxypyruvate NADPH dependent,expressed in liver,kidney and blood

         Enzyme Numbers (IUBMB): EC 1.1.1.811 EC 1.1.1.791

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004616phosphogluconate dehydrogenase (decarboxylating) activity ----
    GO:0008465glycerate dehydrogenase activity IDA10484776
    GO:0016616oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor ----
    GO:0016618hydroxypyruvate reductase activity IDA10484776
    GO:0030267glyoxylate reductase (NADP) activity NAS10524214
         
    GRHPR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GRHPR:
     Decreased DCP1a protein expres 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Grhpr):
     homeostasis/metabolism  immune system  renal/urinary system 

    GRHPR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GRHPR 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GRHPR 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GRHPR 

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GRHPR About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2glycine biosynthesis III
    Glyoxylate metabolism0.40
    3Pyruvate metabolism
    Pyruvate metabolism
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    5Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for GRHPR
        Glyoxylate metabolism
    Metabolism
    Metabolism of amino acids and derivatives


    4         Kegg Pathways  (Kegg details for GRHPR):
        Glycine, serine and threonine metabolism
    Pyruvate metabolism
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways


    GRHPR for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GRHPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/43 Interacting proteins for GRHPR (Q9UBQ73 ENSP000003134324) via UniProtKB, MINT, STRING, and/or I2D (see all 43)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LSM1O151163, ENSP000003105964I2D: score=4 STRING: ENSP00000310596
    ISYNA1Q9NPH23, ENSP000003151474I2D: score=1 STRING: ENSP00000315147
    PIN1Q135263I2D: score=3 
    ACO2Q997983I2D: score=1 
    AKR1A1P145503I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006098pentose-phosphate shunt ----
    GO:0007588excretion IMP10484776
    GO:0008152metabolic process NAS10524214
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    GRHPR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GRHPR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GRHPR

    10/11 HMDB Compounds for GRHPR (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    D-Lactaldehyde(2R)-2-hydroxypropanal (see all 4)3946-09-6--
    Glyceric acidD-Glycerate (see all 7)473-81-4--
    Glycolic acid2-Hydroxyacetate (see all 18)79-14-1--
    Glyoxylic acidFormylformate (see all 16)298-12-4--
    Hydroxypyruvic acid3-Hydroxy-2-oxopropanoate (see all 8)1113-60-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    4 Novoseek inferred chemical compound relationships for GRHPR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxypyruvate 97.5 24 16756993 (3), 10484776 (2), 16597637 (1), 14635115 (1) (see all 12)
    glyoxylate 91.8 35 16198644 (4), 14635115 (3), 16756993 (3), 15840574 (2) (see all 13)
    oxalate 85.8 7 14635115 (1), 15840574 (1), 19296982 (1), 16198644 (1) (see all 5)
    polyglycolic acid 61.8 1 16198644 (1)

    Search CenterWatch for drugs/clinical trials and news about GRHPR

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GRHPR gene: 
    NM_012203.1  

    Unigene Cluster for GRHPR:

    Glyoxylate reductase/hydroxypyruvate reductase
    Hs.155742  [show with all ESTs]
    Unigene Representative Sequence: AK024386
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493368(uc010mlu.3) ENST00000318158(uc003zzt.1 uc003zzu.1)
    ENST00000460882 ENST00000487399 ENST00000377824(uc010mlv.1) ENST00000491488
    ENST00000607784 ENST00000497693(uc003zzw.1) ENST00000480596 ENST00000494290(uc003zzv.1)
    ENST00000482603 ENST00000512404
    miRNA
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    Additional mRNA sequence: 

    AF113215.1 AF113251.1 AF134895.1 AF146018.1 AK024386.1 AK025978.1 AK026287.1 AK026752.1 
    AK307325.1 AK307902.1 AK315690.1 BC000605.2 BC003131.1 BC088360.1 

    24/29 DOTS entries (see all 29):

    DT.100877522  DT.450034  DT.95373014  DT.121203439  DT.91979521  DT.100877527  DT.121203447  DT.121203396 
    DT.92454537  DT.97760135  DT.92454557  DT.100877532  DT.100711586  DT.100877530  DT.95215306  DT.100044466 
    DT.100877528  DT.121203383  DT.95373016  DT.100877526  DT.100877539  DT.100877540  DT.121203369  DT.121203381 

    24/631 AceView cDNA sequences (see all 631):

    BQ051637 CR616405 AV656527 BM675401 BF434724 CA397744 T34009 BE383001 
    CR598870 CD364933 BQ084401 BU733230 BG163849 CB529411 BQ058937 BQ055370 
    BI820225 AW069333 BM772899 CA431060 CR624268 CR599399 AI140292 CR591687 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for GRHPR (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e · 5f ^ 6a · 6b · 6c · 6d ^ 7a · 7b ·
    SP1:                                -                 -           -     -                                   -     -     -     -                                 
    SP2:                                                  -           -     -                                   -     -     -     -                                 
    SP3:                                                  -           -     -                                   -     -     -     -                 -     -         
    SP4:                                            -     -     -     -     -     -                             -     -     -     -                                 
    SP5:                                      -     -     -     -     -     -     -     -                       -     -     -     -                                 

    ExUns: 7c ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12
    SP1:  -     -                       -                                 
    SP2:  -     -                       -                                 
    SP3:  -     -                                                         
    SP4:  -     -                                                         
    SP5:  -     -                       -                                 


    ECgene alternative splicing isoforms for GRHPR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GRHPR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTTGTTGG
    GRHPR Expression
    About this image


    See GRHPR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GRHPR

    SOURCE GeneReport for Unigene cluster: Hs.155742

    UniProtKB/Swiss-Prot: GRHPR_HUMAN, Q9UBQ7
    Tissue specificity: Ubiquitous. Most abundantly expressed in the liver

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GRHPR gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Grhpr1 , 5 glyoxylate reductase/hydroxypyruvate reductase1, 5 85.77(n)1
    85.67(a)1
      4 (23.65 cM)5
    762381  NM_080289.11  NP_525028.11 
     449813955 
    chicken
    (Gallus gallus)
    Aves GRHPR1 glyoxylate reductase/hydroxypyruvate reductase 72.33(n)
    75.62(a)
      426806  XM_424417.3  XP_424417.3 
    lizard
    (Anolis carolinensis)
    Reptilia GRHPR6
    Uncharacterized protein
    73(a)
    1 ↔ 1
    GL343201.1(3638486-3656570)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985082 similar to glyoxylate reductase/hydroxypyruvate reductase less 74.5(n)    BC045097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb80f042 Danio rerio mRNA similar to glyoxylate reductase/hydroxypyruvate reductase (cDNA clone IMAGE5612466) less 72.76(n)    BC052108.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG12361 , 3 phosphoglycerate dehydrogenase3
    CG12361
    53(a)
    (best of 2)3
    57.29(n)1
    53.44(a)1
      83C13
    407081  NM_141322.11  NP_649579.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GOR1(YNL274C)4 Glyoxylate reductase; null mutation results in increased biomass after diauxic shift; the authentic, non-tagged protein is detected in highly purified mitochondria in high-throughput studies less   --   14(122170-121118) 855447  NP_014125.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G798701 putative D-isomer specific 2-hydroxyacid dehydrogenase less 46.83(n)
    40.08(a)
      844326  NM_106636.2  NP_178105.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02286001 hypothetical protein 50.06(n)
    40.86(a)
      4327189  NM_001049014.1  NP_001042479.1 


    ENSEMBL Gene Tree for GRHPR (if available)
    TreeFam Gene Tree for GRHPR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GRHPR gene
    1 SIMAP similar gene for GRHPR using alignment to 4 protein entries:     GRHPR_HUMAN (see all proteins):
    PHGDH

    GRHPR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/434 SNPs in GRHPR are shown (see all 434)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3094581,2
    C,F,O,A,Hnon-pathogenic137397740(+) GCAGCG/AGAATT 2 /A syn1 ese334Minor allele frequency- A:0.14MN NA NS EA WA CSA EU 8775
    rs803567081,2
    Cpathogenic137392787(+) AGTGG-/GACTCG 2 T D fra10--------
    rs1801773051,2
    Cpathogenic137392887(+) GATCCC/TGGATG 2 P L mis10--------
    rs1194901081,2
    Cpathogenic137394468(+) GGATCC/TGAGTT 2 R * stg10--------
    rs1801773091,2
    Cpathogenic137394576(+) TGAAG-/AAGT  
            
    AAGTG
    1 -- spd10--------
    rs1801773221,2
    Cpathogenic137404622(+) GAACCC/TGCAAC 2 R C mis10--------
    rs358917981,2
    Cuntested137390809(+) GACCG-/GAGAGC 1 -- int10--------
    rs27366641,2
    C,F,A,Huntested137394450(+) GATGTT/CTGATT 1 -- int126Minor allele frequency- C:0.09NS EA NA WA CSA EU 3035
    rs1468960701,2
    Cuntested137396522(+) TTGCCC/TGCCCC 1 -- int10--------
    rs3094591,2
    C,F,A,Huntested137397587(+) GTTCCG/AGAAAT 1 -- int1 ese333Minor allele frequency- A:0.14EA NA NS WA CSA 3596

    HapMap Linkage Disequilibrium report for GRHPR (37422663 - 37436987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GRHPR:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv893058CNV Gain21882294


    Human Gene Mutation Database (HGMD): GRHPR
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604296   
    OMIM disorders: 260000  
    UniProtKB/Swiss-Prot: GRHPR_HUMAN, Q9UBQ7
  • Hyperoxaluria primary 2 (HP2) [MIM:260000]: A disorder characterized by elevated urinary excretion of
    oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis,
    nephrocalcinosis, and end-stage renal disease. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 8 diseases for GRHPR:    About MalaCards
    primary hyperoxaluria type 2    primary hyperoxaluria    nephrocalcinosis    newcastle disease
    nephrolithiasis    follicular lymphoma    peptic ulcer    hepatitis

    3 diseases from the University of Copenhagen DISEASES database for GRHPR:
    Primary hyperoxaluria     Nephrocalcinosis     Nephrolithiasis

    GRHPR for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GRHPR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperoxaluria, primary, type ii 96.5 2 11030416 (1), 10484776 (1)
    hyperoxaluria primary 94.2 11 14635115 (2), 19296982 (2), 17510093 (1), 16306119 (1) (see all 8)
    hyperoxaluria 81.4 6 18951670 (1), 19245173 (1), 15021200 (1)
    nephrocalcinosis 78.6 1 19296982 (1)
    renal stone 64.5 3 15840574 (1), 19296982 (1)
    renal failure 39.6 1 19296982 (1)

    Genatlas disease: GRHPR
    hyperoxaluria primary type II,autosomal recessive,characterized by nephrolithiasis,nephorcalcinosis leading to
    oxalosis and renal failure

    GeneTests: GRHPR
    GeneReviews: GRHPR
    Genetic Association Database (GAD): GRHPR
    Human Genome Epidemiology (HuGE) Navigator: GRHPR (3 documents)

    Export disorders for GRHPR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GRHPR gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with GRHPR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. (PubMed id 10484776)1, 2, 3, 9 Cramer S.D.... Holmes R.P. (1999)
    2. Identification and expression of a cDNA for human hydroxypyruvate/glyoxylate reductase. (PubMed id 10524214)1, 2, 3, 9 Rumsby G. and Cregeen D.P. (1999)
    3. Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. (PubMed id 19296982)1, 4, 9 Levin-Iaina N....Holtzman E.J. (2009)
    4. Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. (PubMed id 16756993)1, 2, 9 Booth M.P....Brady R.L. (2006)
    5. Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. (PubMed id 15327387)1, 4, 9 Rumsby G....Coulter-Mackie M. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Cloning and characterization of a putative human D-2-hydroxyacid dehydrogenase in chromosome 9q. (PubMed id 10679197)1, 2 Huang T.... Shih V.E. (2000)
    9. Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2). (PubMed id 11030416)1, 9 Webster K.E....Cramer S.D. (2000)
    10. A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2. (PubMed id 17510093)1, 9 Takayama T....Cramer S.D. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9380 HGNC: 4570 AceView: GRHPR Ensembl:ENSG00000137106 euGenes: HUgn9380
    ECgene: GRHPR Kegg: 9380 H-InvDB: GRHPR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GRHPR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GRHPR

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GRHPR gene:
    Search GeneIP for patents involving GRHPR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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