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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	112817
Gene name Gene Name - the full gene name approved by the HGNC.	4-hydroxy-2-oxoglutarate aldolase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HOGA1
Synonyms (NCBI Gene) Gene synonyms aliases	C10orf65, DHDPS2, DHDPSL, HP3, NPL2
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.2
Summary Summary of gene provided in NCBI Entrez Gene.	The authors of PMID:20797690 cloned this gene while searching for genes in a region of chromosome 10 linked to primary hyperoxalurea type III. They noted that even though the encoded protein has been described as a mitochondrial dihydrodipicolinate syntha

Show/Hide all(38)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138207257	G>A,T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs149150736	C>T	Pathogenic	Coding sequence variant, missense variant
rs185803104	G>T	Pathogenic	Intron variant
rs200529020	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs201803986	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs202047589	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs267606763	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs267606764	T>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs397509360	AGG>-	Pathogenic	Coding sequence variant, inframe deletion
rs746419489	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs746776892	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs749315029	G>A,T	Likely-pathogenic	Splice donor variant
rs752277936	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs755562733	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs756489804	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs758304537	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, stop gained
rs764396564	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs767405535	C>A,T	Pathogenic	Coding sequence variant, intron variant, stop gained, missense variant
rs770050262	G>A,T	Pathogenic	Coding sequence variant, synonymous variant
rs776817346	A>G	Likely-pathogenic	Splice acceptor variant
rs777046879	G>A	Pathogenic	Coding sequence variant, missense variant
rs777683624	C>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796052085	C>A	Pathogenic	Coding sequence variant, missense variant
rs796052086	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs796052087	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052088	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796052089	A>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796052090	T>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796052091	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052092	TGC>-	Pathogenic	Coding sequence variant, inframe deletion
rs924232072	->TGGTC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs990830655	T>A,G	Likely-pathogenic	Intron variant, splice donor variant
rs1419840309	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1425736036	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554874130	G>A	Likely-pathogenic	Intron variant, splice acceptor variant
rs1554874148	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1564760008	GG>TT	Pathogenic	Coding sequence variant, splice donor variant
rs1589899290	CTGTGACCACCCCC>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049270	hsa-miR-92a-3p	CLASH	23622248
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052490	hsa-miR-4695-5p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052495	hsa-miR-665	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052500	hsa-miR-2114	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT1052503	hsa-miR-3161	CLIP-seq
MIRT1052504	hsa-miR-3202	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052510	hsa-miR-3940-5p	CLIP-seq
MIRT1052511	hsa-miR-4308	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052515	hsa-miR-4507	CLIP-seq
MIRT1052516	hsa-miR-4533	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT1052522	hsa-miR-562	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052523	hsa-miR-585	CLIP-seq
MIRT1052524	hsa-miR-629	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT2011898	hsa-miR-3591-5p	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT2011899	hsa-miR-4255	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052490	hsa-miR-4695-5p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052495	hsa-miR-665	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT2244206	hsa-miR-1587	CLIP-seq
MIRT2244207	hsa-miR-378g	CLIP-seq
MIRT2244208	hsa-miR-4284	CLIP-seq
MIRT2244209	hsa-miR-4492	CLIP-seq
MIRT2244210	hsa-miR-4498	CLIP-seq
MIRT2244211	hsa-miR-4656	CLIP-seq
MIRT2244212	hsa-miR-4675	CLIP-seq
MIRT2244213	hsa-miR-4741	CLIP-seq
MIRT2244214	hsa-miR-762	CLIP-seq
MIRT1052516	hsa-miR-4533	CLIP-seq
MIRT2451296	hsa-miR-3120-5p	CLIP-seq
MIRT2451297	hsa-miR-3121-3p	CLIP-seq
MIRT2451298	hsa-miR-3613-3p	CLIP-seq
MIRT2451299	hsa-miR-3664-5p	CLIP-seq
MIRT2451300	hsa-miR-371-5p	CLIP-seq
MIRT2451301	hsa-miR-371b-5p	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT2451302	hsa-miR-4738-3p	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT2451297	hsa-miR-3121-3p	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT2451296	hsa-miR-3120-5p	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT2451298	hsa-miR-3613-3p	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT2547152	hsa-miR-3647-3p	CLIP-seq
MIRT2451299	hsa-miR-3664-5p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT2451300	hsa-miR-371-5p	CLIP-seq
MIRT2451301	hsa-miR-371b-5p	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052512	hsa-miR-4433	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT2451302	hsa-miR-4738-3p	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052523	hsa-miR-585	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052497	hsa-miR-1207-5p	CLIP-seq
MIRT1052498	hsa-miR-1268	CLIP-seq
MIRT1052499	hsa-miR-1268b	CLIP-seq
MIRT1052484	hsa-miR-1827	CLIP-seq
MIRT1052501	hsa-miR-2682	CLIP-seq
MIRT2451296	hsa-miR-3120-5p	CLIP-seq
MIRT1052502	hsa-miR-3122	CLIP-seq
MIRT2451298	hsa-miR-3613-3p	CLIP-seq
MIRT1052505	hsa-miR-3622a-3p	CLIP-seq
MIRT1052506	hsa-miR-3622b-3p	CLIP-seq
MIRT2451299	hsa-miR-3664-5p	CLIP-seq
MIRT1052507	hsa-miR-3689a-3p	CLIP-seq
MIRT1052508	hsa-miR-3689c	CLIP-seq
MIRT2451300	hsa-miR-371-5p	CLIP-seq
MIRT2451301	hsa-miR-371b-5p	CLIP-seq
MIRT1052509	hsa-miR-3913-5p	CLIP-seq
MIRT1052485	hsa-miR-3929	CLIP-seq
MIRT1052486	hsa-miR-4419b	CLIP-seq
MIRT1052487	hsa-miR-4459	CLIP-seq
MIRT1052488	hsa-miR-4478	CLIP-seq
MIRT1052513	hsa-miR-4486	CLIP-seq
MIRT1052514	hsa-miR-449c	CLIP-seq
MIRT1052489	hsa-miR-4649-3p	CLIP-seq
MIRT1052491	hsa-miR-4722-5p	CLIP-seq
MIRT1052517	hsa-miR-4728-5p	CLIP-seq
MIRT1052518	hsa-miR-4736	CLIP-seq
MIRT2451302	hsa-miR-4738-3p	CLIP-seq
MIRT1052519	hsa-miR-4763-3p	CLIP-seq
MIRT1052492	hsa-miR-4768-3p	CLIP-seq
MIRT1052493	hsa-miR-485-5p	CLIP-seq
MIRT1052520	hsa-miR-544b	CLIP-seq
MIRT1052521	hsa-miR-548c-3p	CLIP-seq
MIRT1052494	hsa-miR-566	CLIP-seq
MIRT1052523	hsa-miR-585	CLIP-seq
MIRT1052496	hsa-miR-940	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	27499296, 28514442, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS	21998747
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IBA
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IDA	21998747
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	IEA
GO:0008700	Function	(R,S)-4-hydroxy-2-oxoglutarate aldolase activity	ISS
GO:0009436	Process	Glyoxylate catabolic process	IBA
GO:0009436	Process	Glyoxylate catabolic process	IEA
GO:0009436	Process	Glyoxylate catabolic process	IMP	20797690
GO:0016829	Function	Lyase activity	IEA
GO:0019470	Process	Trans-4-hydroxy-L-proline catabolic process	IDA	21998747
GO:0033609	Process	Oxalate metabolic process	IMP	21896830
GO:0042803	Function	Protein homodimerization activity	IDA	21998747
GO:0042866	Process	Pyruvate biosynthetic process	IDA	21998747
GO:0046487	Process	Glyoxylate metabolic process	IDA	21998747
GO:0106009	Function	(4S)-4-hydroxy-2-oxoglutarate aldolase activity	IEA

MIM	HGNC	e!Ensembl
613597	25155	ENSG00000241935

Protein

UniProt ID

Q86XE5

Protein name

4-hydroxy-2-oxoglutarate aldolase, mitochondrial (EC 4.1.3.16) (Dihydrodipicolinate synthase-like) (DHDPS-like protein) (Probable 2-keto-4-hydroxyglutarate aldolase) (Probable KHG-aldolase) (Protein 569272)

Protein function

Catalyzes the final step in the metabolic pathway of hydroxyproline.

PDB

3S5N , 3S5O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00701	DHDPS	34 → 323	Dihydrodipicolinate synthetase family	Domain

Sequence

MLGPQVWSSVRQGLSRSLSRNVGVWASGEGKKVDIAGIYPPVTTPFTATAEVDYGKLEEN
LHKLGTFPFRGFVVQGSNGEFPFLTSSERLEVVSRVRQAMPKNRLLLAGSGCESTQATVE
MTVSMAQVGADAAMVVTPCYYRGRMSSAALIHHYTKVADLSPIPVVLYSVPANTGLDLPV
DAVVTLSQHPNIVGMKDSGGDVTRIGLIVHKTRKQDFQVLAGSAGFLMASYALGAVGGVC
ALANVLGAQVCQLERLCCTGQWEDAQKLQHRLIEPNAAVTRRFGIPGLKKIMDWFGYYGG
PCRAPLQELSPAEEEALRMDFTSNGWL

Sequence length

327

Interactions

View interactions

	KEGG		Reactome
	Arginine and proline metabolism Glyoxylate and dicarboxylate metabolism Metabolic pathways		Glyoxylate metabolism and glycine degradation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hyperoxaluria	primary hyperoxaluria type 3	rs767405535, rs777046879, rs752277936, rs2041105506, rs796052090, rs796052091, rs749315029, rs267606763, rs202047589, rs796052092, rs1564753668, rs267606764, rs185803104, rs1419840309, rs924232072 View all (24 more)	N/A

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Genetic Diseases Inborn	Associate	22232173
Hyperoxaluria	Associate	21896830, 25972204
Hyperoxaluria Primary	Associate	20797690, 25644115, 35612621, 35661454, 36151119, 39933499, 40225159
Kidney Calculi	Associate	22232173, 35612621
Kidney Diseases	Associate	27561601
Neoplasms	Associate	36434634
Nephrocalcinosis	Associate	35612621
Nephrolithiasis Calcium Oxalate	Associate	21896830
Philadelphia Chromosome	Associate	27561601, 33274618, 36151119
Primary hyperoxaluria type 1	Associate	25972204, 27096395, 27561601, 31401635, 34245816
Rufous oculocutaneous albinism	Associate	22781098
Urinary Tract Infections	Associate	25972204
Urolithiasis	Associate	27561601

HOGA1 (4-hydroxy-2-oxoglutarate aldolase 1)