Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9380
Gene name	Glyoxylate and hydroxypyruvate reductase
Gene symbol	GRHPR
Synonyms (NCBI Gene)	GLXRGLYDPH2
Chromosome	9
Chromosome location	9p13.2
Summary	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

Show/Hide all (63)

SNP ID	Visualize variation	Clinical significance	Consequence
rs309458	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs34302950	TCTCTCTCTC>-,TC,TCTC,TCTCTC,TCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTC,TCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTC,TCTCTCTCTCTCTCTCTCTCTCTCTC	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs80356708	G>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, intron variant, coding sequence variant
rs111256477	G>C,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs119490108	C>T	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, intron variant, coding sequence variant
rs142835989	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs148049120	G>A	Likely-pathogenic	Splice donor variant, non coding transcript variant
rs180177304	G>A	Likely-pathogenic	5 prime UTR variant, intron variant, stop gained, non coding transcript variant, coding sequence variant
rs180177305	T>C	Pathogenic	5 prime UTR variant, intron variant, missense variant, non coding transcript variant, coding sequence variant
rs180177307	G>A,T	Likely-pathogenic	5 prime UTR variant, intron variant, stop gained, missense variant, non coding transcript variant, coding sequence variant
rs180177308	G>-	Pathogenic	5 prime UTR variant, intron variant, frameshift variant, non coding transcript variant, coding sequence variant
rs180177309	AAGT>-	Pathogenic-likely-pathogenic	5 prime UTR variant, intron variant, splice donor variant, non coding transcript variant, coding sequence variant
rs180177311	A>-	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs180177312	G>A	Pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs180177313	T>A,G	Likely-pathogenic	Splice donor variant, non coding transcript variant, 5 prime UTR variant
rs180177314	G>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs180177315	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs180177316	CT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs180177317	G>A	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs180177319	A>G	Pathogenic	Intron variant, splice acceptor variant
rs180177320	CCCC>-	Pathogenic	Intron variant
rs180177321	TG>-	Pathogenic-likely-pathogenic, pathogenic	Inframe indel, frameshift variant, stop gained, non coding transcript variant, coding sequence variant
rs180177322	C>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs180177323	G>A	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs180177324	A>G	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs180177325	T>C,G	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs672601351	TG>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs751101495	G>-,GG	Likely-pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs757796926	G>A	Likely-pathogenic	Intron variant
rs771019056	->A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs779208888	G>A	Likely-pathogenic	Splice acceptor variant
rs796052077	GC>AT	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs796052078	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant, intron variant
rs796052079	T>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs796052080	CC>-	Pathogenic	Intron variant
rs796052081	AGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, splice acceptor variant, intron variant
rs796052082	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs979727637	C>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, synonymous variant
rs1057516292	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057516299	A>-	Likely-pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057516823	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057516831	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs1057516990	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517026	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1057517238	->A	Likely-pathogenic	5 prime UTR variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1057517333	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1057517398	T>G	Likely-pathogenic	Splice donor variant, intron variant
rs1244822375	G>C,T	Likely-pathogenic	Intron variant, splice donor variant
rs1257080057	A>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant
rs1422977131	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1554746094	A>G,T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, initiator codon variant
rs1554746097	T>G	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, initiator codon variant
rs1554746565	TG>-	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554746793	AG>-	Likely-pathogenic	Splice acceptor variant, intron variant
rs1554746962	->TACTTACCACCTGC	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554747871	C>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554747933	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, splice donor variant
rs1554748528	GG>TAC	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554748534	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1554748574	->G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554748598	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564300888	CTGCCCAATCTGATTTCATCGTCGTGGCCTGCTCCTTAACACCTGCAACCGAGGG>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588757756	AG>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

Show/Hide all (65)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040697	hsa-miR-92b-3p	CLASH	23622248
MIRT035939	hsa-miR-1180-3p	CLASH	23622248
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq
MIRT2239103	hsa-miR-3591-3p	CLIP-seq
MIRT2239104	hsa-miR-3657	CLIP-seq
MIRT2239105	hsa-miR-4501	CLIP-seq
MIRT2239106	hsa-miR-4504	CLIP-seq
MIRT2239107	hsa-miR-4669	CLIP-seq
MIRT2239108	hsa-miR-542-3p	CLIP-seq
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT2543032	hsa-miR-2115	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT2543033	hsa-miR-3675-3p	CLIP-seq
MIRT2543034	hsa-miR-3691-5p	CLIP-seq
MIRT2543035	hsa-miR-3977	CLIP-seq
MIRT2543036	hsa-miR-4290	CLIP-seq
MIRT2543037	hsa-miR-452	CLIP-seq
MIRT2543038	hsa-miR-4676-3p	CLIP-seq
MIRT2543039	hsa-miR-4684-5p	CLIP-seq
MIRT2543040	hsa-miR-4685-5p	CLIP-seq
MIRT2543041	hsa-miR-4752	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT2543042	hsa-miR-516a-3p	CLIP-seq
MIRT2543043	hsa-miR-564	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT2543044	hsa-miR-661	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq
MIRT1034150	hsa-miR-1228	CLIP-seq
MIRT1034151	hsa-miR-204	CLIP-seq
MIRT1034152	hsa-miR-211	CLIP-seq
MIRT2543032	hsa-miR-2115	CLIP-seq
MIRT1034153	hsa-miR-3194-3p	CLIP-seq
MIRT2543033	hsa-miR-3675-3p	CLIP-seq
MIRT2543034	hsa-miR-3691-5p	CLIP-seq
MIRT2543035	hsa-miR-3977	CLIP-seq
MIRT2543036	hsa-miR-4290	CLIP-seq
MIRT2543037	hsa-miR-452	CLIP-seq
MIRT2543038	hsa-miR-4676-3p	CLIP-seq
MIRT2543039	hsa-miR-4684-5p	CLIP-seq
MIRT2543040	hsa-miR-4685-5p	CLIP-seq
MIRT2543041	hsa-miR-4752	CLIP-seq
MIRT1034154	hsa-miR-4755-5p	CLIP-seq
MIRT1034155	hsa-miR-4780	CLIP-seq
MIRT2543042	hsa-miR-516a-3p	CLIP-seq
MIRT2543043	hsa-miR-564	CLIP-seq
MIRT1034156	hsa-miR-623	CLIP-seq
MIRT1034157	hsa-miR-760	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	23599041
GO:0005737	Component	Cytoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0008465	Function	Hydroxypyruvate reductase (NADH) activity	IBA
GO:0008465	Function	Hydroxypyruvate reductase (NADH) activity	IDA	10484776
GO:0008465	Function	Hydroxypyruvate reductase (NADH) activity	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0016618	Function	Hydroxypyruvate reductase [NAD(P)H] activity	IDA	10484776, 10524214, 17510093
GO:0016618	Function	Hydroxypyruvate reductase [NAD(P)H] activity	IEA
GO:0019752	Process	Carboxylic acid metabolic process	TAS
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	IBA
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	IDA	10484776, 10524214
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	IEA
GO:0030267	Function	Glyoxylate reductase (NADPH) activity	TAS
GO:0031406	Function	Carboxylic acid binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	16756993
GO:0043648	Process	Dicarboxylic acid metabolic process	IEA
GO:0046487	Process	Glyoxylate metabolic process	IDA	10484776, 10524214
GO:0050661	Function	NADP binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070402	Function	NADPH binding	IDA	16756993
GO:0120509	Function	Hydroxypyruvate reductase (NADPH) activity	IEA
GO:1902494	Component	Catalytic complex	IDA	16756993

MIM	HGNC	e!Ensembl
604296	4570	ENSG00000137106

Q9UBQ7

Protein name

Glyoxylate reductase/hydroxypyruvate reductase (EC 1.1.1.79) (EC 1.1.1.81)

Protein 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. {ECO:0000269|PubMed:104847

PDB

2GCG , 2H1S , 2Q50 , 2WWR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00389	2-Hacid_dh	9 → 327	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	Domain
PF02826	2-Hacid_dh_C	116 → 295	D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Most abundantly expressed in the liver. {ECO:0000269|PubMed:10679197}.

Sequence

MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKELERGVAGAHGLLCLLS
DHVDKRILDAAGANLKVISTMSVGIDHLALDEIKKRGIRVGYTPDVLTDTTAELAVSLLL
TTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIGLGRIGQAIARRLKPFGVQRF
LYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSLTPATEGLCNKDFFQKMKETAVF
INISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPLPTNHPLLTLKNCVILPHIGSATHR
TRNTMSLLAANNLLAGLRGEPMPSELKL

Sequence length

328

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Pyruvate metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways		Glyoxylate metabolism and glycine degradation

353

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	Pathogenic	rs119490108	RCV005859454
GRHPR-related disorder	Pathogenic; Likely pathogenic	rs180177314, rs774654020	RCV003927729 RCV003392593
Melanoma	Likely pathogenic; Pathogenic	rs148049120	RCV005902004
Nephrocalcinosis	Pathogenic; Likely pathogenic	rs80356708, rs757796926	RCV000662321 RCV000662322
Nephrolithiasis	Pathogenic; Likely pathogenic	rs80356708, rs757796926	RCV000662321 RCV000662322
Primary hyperoxaluria	Pathogenic	rs180177321, rs180177314, rs119490108	RCV000588010 RCV000585941 RCV000590094
Primary hyperoxaluria, type II	Likely pathogenic; Pathogenic	rs1564300408, rs771990662, rs180177321, rs672601351, rs180177322, rs2489243310, rs2489242953, rs2489235986, rs2489235913, rs2489242940, rs2118880130, rs1455078314, rs180177307, rs796052077, rs180177311 View all (101 more)	RCV003469664 RCV001536058 RCV000149441 RCV000149442 RCV000149443 RCV002308253 RCV002309066 RCV002309082 RCV002307103 RCV002310066 RCV002310328 RCV002470188 RCV000169087 RCV000186437 RCV000186452 RCV000186448 RCV000186438 RCV000186439 RCV000186440 RCV000186454 RCV000186456 RCV000186457 RCV000186450 RCV000186442 RCV000186458 RCV000186459 RCV000186460 RCV000186451 RCV000186445 RCV000186447 RCV000186446 RCV000005990 RCV000005991 RCV003445187 RCV004572502 RCV004572500 RCV003465897 RCV005050688 RCV003155621 RCV003445244 RCV003445247 RCV003445248 RCV003445249 RCV003445251 RCV003445252 RCV003445253 RCV003445255 RCV003447375 RCV003447377 RCV003447378 RCV003447379 RCV003447380 RCV003447382 RCV003447383 RCV003447387 RCV003447388 RCV003447389 RCV003468298 RCV003468299 RCV003468300 RCV003476415 RCV003468301 RCV003468302 RCV003468303 RCV003461714 RCV003468304 RCV003468305 RCV003468306 RCV003448961 RCV003448962 RCV003448963 RCV003448964 RCV003486491 RCV004574259 RCV005616744 RCV005047761 RCV005063146 RCV004759334 RCV004576701 RCV004576702 RCV004576703 RCV000411660 RCV000410412 RCV000411412 RCV000412226 RCV000410867 RCV000410868 RCV000411789 RCV000411634 RCV000409258 RCV000409935 RCV000409413 RCV000409992 RCV001835065 RCV000673070 RCV000666372 RCV000666459 RCV000664769 RCV000671056 RCV000666135 RCV000673330 RCV000669576 RCV000666214 RCV000673174 RCV000666341 RCV000673051 RCV000667472 RCV000672508 RCV000669610 RCV000665069 RCV000673957 RCV000666154 RCV000669152 RCV000668309 RCV000673697 RCV000666802 RCV003447157 RCV000735809 RCV000779582 RCV002507383 RCV001784426 RCV003467737 RCV001264362 RCV001264363 RCV001264364
Sarcoma	Likely pathogenic; Pathogenic	rs757796926	RCV005901427

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs796052080, rs1554746962	-
Hepatocellular carcinoma	Likely benign	rs2489242886	RCV005931587
Nephrolithiasis/nephrocalcinosis	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs1383422680, rs113602485, rs373541730, rs141330907, rs763052360, rs549318773, rs147053190, rs139689525, rs143337459, rs1205587022, rs769706192, rs370530139, rs750846577, rs781026957, rs2118891279 View all (38 more)	RCV004037999 RCV002456676 RCV002384560 RCV003298735 RCV004038423 RCV004995796 RCV005841804 RCV002414221 RCV002449346 RCV006357232 RCV004042901 RCV004041677 RCV004045338 RCV005841980 RCV004631962 RCV004045045 RCV002351876 RCV002394110 RCV002371432 RCV002367008 RCV004990817 RCV004112437 RCV004120163 RCV004187530 RCV004259176 RCV004298087 RCV003295994 RCV003296898 RCV004333270 RCV004335014 RCV003379976 RCV004621846 RCV002338963 RCV002418225 RCV002374610 RCV002418226 RCV004022118 RCV004393711 RCV004393712 RCV004519452 RCV003363002 RCV002363365 RCV004029729 RCV005572415 RCV002454222 RCV004030067 RCV004032894 RCV002393378 RCV004032901 RCV002365817 RCV005348393 RCV004994376 RCV005851779 RCV002447248 RCV004035496

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Glioma	Associate	37952042
Hyperoxaluria	Associate	11135054, 12110000, 18951670, 28569194
Hyperoxaluria Primary	Associate	11135054, 32221050, 35661454, 36151119, 40225159
Nephrocalcinosis	Associate	28569194
Obesity	Associate	28274171
Philadelphia Chromosome	Associate	15327387
Primary hyperoxaluria type 1	Associate	20797690
Primary hyperoxaluria type 2	Associate	25410531, 28569194
Primary hyperoxaluria type 2	Inhibit	28569194

GRHPR (glyoxylate and hydroxypyruvate reductase)