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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51179
Gene name Gene Name - the full gene name approved by the HGNC.	Hydroxyacid oxidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HAO2
Synonyms (NCBI Gene) Gene synonyms aliases	GIG16, HAOX2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variant

Show/Hide all(10)

miRTarBase ID	miRNA	Experiments
MIRT1040611	hsa-miR-3154	CLIP-seq
MIRT1040612	hsa-miR-3622b-5p	CLIP-seq
MIRT1040613	hsa-miR-4253	CLIP-seq
MIRT1040614	hsa-miR-4276	CLIP-seq
MIRT1040615	hsa-miR-4697-3p	CLIP-seq
MIRT1040616	hsa-miR-4761-3p	CLIP-seq
MIRT1040617	hsa-miR-520d-5p	CLIP-seq
MIRT1040618	hsa-miR-524-5p	CLIP-seq
MIRT2240955	hsa-miR-4476	CLIP-seq
MIRT2240956	hsa-miR-4533	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IDA	10777549
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005777	Component	Peroxisome	IDA	10777549
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	TAS
GO:0009062	Process	Fatty acid catabolic process	TAS
GO:0010181	Function	FMN binding	IEA
GO:0019395	Process	Fatty acid oxidation	IDA	10777549
GO:0052852	Function	Very-long-chain-(S)-2-hydroxy-acid oxidase activity	IEA
GO:0052853	Function	Long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity	IDA	10777549
GO:0052854	Function	Medium-chain-(S)-2-hydroxy-acid oxidase activity	IEA

MIM	HGNC	e!Ensembl
605176	4810	ENSG00000116882

Protein

UniProt ID

Q9NYQ3

Protein name

2-Hydroxyacid oxidase 2 (HAOX2) (EC 1.1.3.15) ((S)-2-hydroxy-acid oxidase, peroxisomal) (Cell growth-inhibiting gene 16 protein) (Long chain alpha-hydroxy acid oxidase) (Long-chain L-2-hydroxy acid oxidase)

Protein function

Oxidase that catalyzes the oxidation of medium and long chain hydroxyacids such as 2-hydroxyhexadecanoate and 2-hydroxyoctanoate, to the correspondong 2-oxoacids (PubMed:10777549). Its role in the oxidation of 2-hydroxy fatty acids may contribut

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01070	FMN_dh	13 → 348	FMN-dependent dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the liver and kidney. {ECO:0000269|PubMed:10777549}.

Sequence

MSLVCLTDFQAHAREQLSKSTRDFIEGGADDSITRDDNIAAFKRIRLRPRYLRDVSEVDT
RTTIQGEEISAPICIAPTGFHCLVWPDGEMSTARAAQAAGICYITSTFASCSLEDIVIAA
PEGLRWFQLYVHPDLQLNKQLIQRVESLGFKALVITLDTPVCGNRRHDIRNQLRRNLTLT
DLQSPKKGNAIPYFQMTPISTSLCWNDLSWFQSITRLPIILKGILTKEDAELAVKHNVQG
IIVSNHGGRQLDEVLASIDALTEVVAAVKGKIEVYLDGGVRTGNDVLKALALGAKCIFLG
RPILWGLACKGEHGVKEVLNILTNEFHTSMALTGCRSVAEINRNLVQFSRL

Sequence length

351

Interactions

View interactions

	KEGG		Reactome
	Glyoxylate and dicarboxylate metabolism Metabolic pathways Carbon metabolism Peroxisome		Peroxisomal lipid metabolism Peroxisomal protein import

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	27989131

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Renal Cell	Associate	32737333, 36516496
Hyperoxaluria Primary	Associate	19758989
Primary hyperoxaluria type 1	Associate	40120493
Primary hyperoxaluria type 2	Associate	20054120

HAO2 (hydroxyacid oxidase 2)