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GRHPR Gene

protein-coding   GIFtS: 69
GCID: GC09P037412

Glyoxylate Reductase/Hydroxypyruvate Reductase


(Previous symbol: GLXR)
  See GRHPR-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

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   
ORGUL members:         

Export aliases for GRHPR gene to outside databases

Previous GC identifers: GC09P037734 GC09P037592


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008413.19  NC_018920.2  
Regulatory elements:
   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 Chromatin IP Primers for GRHPR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GRHPR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_036335.1  
    ENSEMBL proteins: 
     ENSP00000313432   ENSP00000475569   ENSP00000432021  
    Reactome Protein details: Q9UBQ7

    GRHPR Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with GRHPR           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (see all 11):    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
         
    Find genes that share ontologies with GRHPR           About GenesLikeMe


    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 

    Find genes that share phenotypes with GRHPR           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GRHPR
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    hsa-mir-92b-3p (MIRT040697), hsa-mir-1180-3p (MIRT035939)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    peroxisome4
    mitochondrion3
    cytosol1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005782peroxisomal matrix TAS--
    GO:0005829cytosol IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with GRHPR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GRHPR About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Glyoxylate metabolism0.00
    3Pyruvate metabolism
    Pyruvate metabolism
    4Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism
    5Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism


    Find genes that share SuperPaths with GRHPR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for GRHPR
        Glyoxylate metabolism


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GRHPR
    Interactions:

        Search GeneGlobe Interaction Network for GRHPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GRHPR (Q9UBQ73 ENSP000003134324) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPRE1Q156913, ENSP000003647214I2D: score=1 STRING: ENSP00000364721
    LSM1O151163, ENSP000003105964I2D: score=4 STRING: ENSP00000310596
    ISYNA1Q9NPH23, ENSP000003151474I2D: score=1 STRING: ENSP00000315147
    PIN1Q135263I2D: score=3 
    ACO2Q997983I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    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:0043648dicarboxylic acid metabolic process IEA--

    Find genes that share ontologies with GRHPR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GRHPR

    Selected 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)



    Find genes that share compounds with GRHPR           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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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 

    Selected 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 

    Selected AceView cDNA sequences (see all 631):

    CR591687 AW250705 CA453913 BM746173 BC000605 BG055669 AI587030 AI740611 
    D25570 BM757365 BQ575716 CR610353 BC003131 BF434724 BQ063478 BF115443 
    CR602677 AF134895 CA431060 AV656527 BQ642630 BQ058210 BU733230 AI140292 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    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


    GRHPR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Ovary (Reproductive System)
    GRHPR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GRHPR Protein Expression

    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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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GRHPR gene from Selected species (see all 19)    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_424417.4  XP_424417.3 
    lizard
    (Anolis carolinensis)
    Reptilia GRHPR6
    glyoxylate reductase/hydroxypyruvate reductase
    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_141322.21  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 AT1G79870 46.83(n)
    40.08(a)
      844326  NM_106636.2  NP_178105.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g02286001 Os01g0228600 50.2(n)
    41.96(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)
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    Paralogs for GRHPR gene
    1 SIMAP similar gene for GRHPR using alignment to 5 protein entries:     GRHPR_HUMAN (see all proteins):
    PHGDH

    Find genes that share paralogs with GRHPR           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GRHPR (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GRHPR
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 2 diseases for GRHPR:    
    About MalaCards
    primary hyperoxaluria type 2    primary hyperoxaluria

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

    Find genes that share disorders with GRHPR           About GenesLikeMe

    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)
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    PubMed articles for GRHPR gene, integrated from 10 sources (see all 47):
    (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. (Hum. Mol. Genet. 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. (Biochim. Biophys. Acta 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. (J. Urol. 2009)
    4. Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. (PubMed id 16756993)1, 2, 9 Booth M.P.S.... Brady R.L. (J. Mol. Biol. 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. (Kidney Int. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Genome Res. 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. (Biochem. Biophys. Res. Commun. 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. (Hum. Genet. 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. (Nephrol. Dial. Transplant. 2007)

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

      Query String
    PubMed
    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)
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    Entrez Gene: 9380 HGNC: 4570 AceView: GRHPR Ensembl:ENSG00000137106 euGenes: HUgn9380
    ECgene: GRHPR Kegg: 9380 H-InvDB: GRHPR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GRHPR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GRHPR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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