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

GRHPR Gene

protein-coding   GIFtS: 66
GCID: GC09P037412

glyoxylate reductase/hydroxypyruvate reductase


(Previous symbol: GLXR)
 Explore 8 diseases affiliated with
GRHPR via our new
 Human Malady Compendium 
Biological research products
for GRHPR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Glyoxylate Reductase/Hydroxypyruvate Reductase1 2     Glycerate-2-Dehydrogenase1
GLXR1 2 3 5     EC 1.1.1.793
PH21 2     EC 1.1.1.813
GLYD2     

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008413.18  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBQ7

  • GRHPR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_036335.1  
    ENSEMBL proteins: 
     ENSP00000367055   ENSP00000313432   ENSP00000432021  
    Reactome Protein details: Q9UBQ7
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    Uscn 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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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GRHPR for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB006139 D-isomer specific 2-hydroxyacid dehydrogenase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    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:0000166nucleotide binding ----
    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 IDA17510093
    GO:0030267glyoxylate reductase (NADP) activity NAS10524214


    GRHPR for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for GRHPR:
     Decreased DCP1a protein expres 

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

    GRHPR for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    2Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    3Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism1.00
    4Pyruvate metabolism
    Pyruvate metabolism1.00
    5glycine biosynthesis III
    Glyoxylate metabolism0.40

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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


    3         Kegg Pathways  (Kegg details for GRHPR):
        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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007588excretion IMP10484776
    GO:0008152metabolic process NAS10524214
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0046487glyoxylate 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, 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 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 235 Homo sapiens; Mar 10 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,
    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, 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
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000493368(uc010mlu.3) ENST00000377824(uc010mlv.1) ENST00000318158(uc003zzt.1 uc003zzu.1)
    ENST00000460882 ENST00000487399 ENST00000491488 ENST00000497693(uc003zzw.1)
    ENST00000480596 ENST00000494290(uc003zzv.1) ENST00000482603

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    Additional cDNA 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):

    BM712947 BI760532 BQ057359 CR597201 BQ919183 CA453913 T34009 NM_012203 
    BG055669 CR598870 CA397744 BF794690 CR591687 AI985881 AA256690 BQ063478 
    BE857144 AV656527 AI678784 BM725539 AF134895 CR599135 AI014882 CR602677 

    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
    CGAP TAG: TCCTTGTTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GRHPR

    (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 last universal common ancestor (LUCA).

    Orthologs for GRHPR gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    73(a)
    1 ↔ 1
    GL343201.1(3638486-3656570)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985082 similar to glyoxylate reductase/hydroxypyruvate reductase 74.5(n)    BC045097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb80f042 Danio rerio mRNA similar to glyoxylate reductase/hydroxypyruvate more 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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G798701 putative D-isomer specific 2-hydroxyacid dehydrogenase 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 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria ghrB6
    glyoxylate/hydroxypyruvate reductase B
    36(a)
    1 ↔ 1
    Chromosome(3715333-3716307)


    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/337 NCBI SNPs in GRHPR are shown (see all 337    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358917981,2
    C,non-pathogenic37422881(+) GACCG-/GAGAGC 1 -- int10--------
    rs1468960701,2
    C,non-pathogenic37428596(+) TTGCCC/TGCCCC 1 -- int10--------
    rs3094591,2
    C,F,A,H,non-pathogenic37429661(+) GTTCCG/AGAAAT 1 -- int1 ese333Minor allele frequency- A:0.14EA NA NS WA CSA 3596
    rs727396431,2
    C,,non-pathogenic37429978(+) TACCTG/TCCCCT 1 -- int10--------
    rs564015361,2
    C,F,non-pathogenic37430652(+) TCCTAG/AGGCCA 1 -- int14Minor allele frequency- A:0.02WA CSA EU 1445
    rs11352831,2
    Cnon-pathogenic37436663(+) TGATTC/TTGCCC 2 L syn11Minor allele frequency- T:0.00MN 184
    rs762992661,2
    C,F,non-pathogenic37436755(+) GAGCCG/AATGCC 2 /P syn13Minor allele frequency- A:0.01WA NA EU 5987
    rs803567081,2
    Cpathogenic37424861(+) AGTGG-/GACTCG 2 T D fra10--------
    rs1194901081,2
    Cpathogenic37426542(+) GGATCC/TGAGTT 2 R * stg10--------
    rs1801773251,2
    Cpathogenic37436757(+) GCCGAC/G/TGCCTA 3 T R M mis10--------

    HapMap Linkage Disequilibrium report for GRHPR (37422663 - 37436987 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for GRHPR: --
    Human Gene Mutation Database (HGMD): GRHPR

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GRHPR
    DNA2.0 Custom Variant and Variant Library Synthesis for GRHPR

    (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.)
    About This Section

    GRHPR for disorders           About GeneDecksing

    OMIM gene information: 604296   
    OMIM disorders: 260000  
    UniProtKB/Swiss-Prot: GRHPR_HUMAN, Q9UBQ7
  • Defects in GRHPR are the cause of hyperoxaluria primary type 2 (HP2) [MIM:260000]; also known as primary
  • hyperoxaluria type II (PH2). HP2 is a disorder where the main clinical manifestation is calcium oxalate
    nephrolithiasis though chronic as well as terminal renal insufficiency has been described. It is characterized by an
    elevated urinary excretion of oxalate and L-glycerate

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

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

    6 Novoseek 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
    Hyperoxaluria, Primary, Type 2

    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 41):
    (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. Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. (PubMed id 16756993)1, 2, 9 Booth M.P....Brady R.L. (2006)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. 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)
    8. 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, 9 Levin-Iaina N....Holtzman E.J. (2009)
    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
    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)
    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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