ENSG00000137106
Homo sapiens | |
Features
| Gene ID: | ENSG00000137106 | | | | | Biological name : | GRHPR | | | | | Synonyms : | glyoxylate and hydroxypyruvate reductase / GRHPR / Q9UBQ7 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 9 | | Strand: | 1 | | Band: | p13.2 | | Gene start: | 37422666 | | Gene end: | 37436990 | | | | | Corresponding Affymetrix probe sets: | 201347_x_at (Human Genome U133 Plus 2.0 Array) 214864_s_at (Human Genome U133 Plus 2.0 Array) 216308_x_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000313432
Ensembl peptide - ENSP00000432021
Ensembl peptide - ENSP00000475569
NCBI entrez gene - 9380
See in Manteia.
OMIM - 604296
RefSeq - XM_017015323
RefSeq - NM_012203
RefSeq - XM_011518073
RefSeq - XM_017015320
RefSeq - XM_017015321
RefSeq - XM_005251631
RefSeq Peptide - NP_036335
swissprot - Q9UBQ7
swissprot - U3KQ56
Ensembl - ENSG00000137106
| | | | | Related genetic diseases (OMIM): | 260000 - Hyperoxaluria, primary, type II, 260000 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
No match
Protein motifs (from Interpro)
| IPR006139 | D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain | | IPR006140 | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain | | IPR029753 | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site | | IPR036291 | NAD(P)-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000010 | Recurrent urinary tract infections | "Repeated infections of the urinary tract." [HPO:curators] |
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| | HP:0000083 | Renal failure | |
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| | HP:0000121 | Nephrocalcinosis | |
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| | HP:0000787 | Kidney stones | |
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| | HP:0000790 | Hematuria | "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] |
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| | HP:0003159 | Hyperoxaluria | |
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| | HP:0003355 | Abnormal urinary amino-acid findings | |
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| | HP:0003828 | Variable expressivity | |
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| | HP:0006000 | Ureteral obstruction | |
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| | HP:0008672 | Calcium oxalate nephrolithiasis | |
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Interacting proteins (from Reactome)
No match
0 s.
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