HAO2 (hydroxyacid oxidase 2)

Gene

• Entrez ID: 51179
• Gene name: Hydroxyacid oxidase 2
• Gene symbol: HAO2
• Synonyms (NCBI Gene): GIG16, HAOX2
• Chromosome: 1
• Chromosome location: 1p12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IBA
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IDA	10777549
GO:0003973	Function	(S)-2-hydroxy-acid oxidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005777	Component	Peroxisome	IEA
GO:0005782	Component	Peroxisomal matrix	IBA
GO:0005782	Component	Peroxisomal matrix	IDA	10777549
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0010181	Function	FMN binding	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019395	Process	Fatty acid oxidation	IDA	10777549
GO:0019395	Process	Fatty acid oxidation	IEA

Other IDs

• MIM: 605176
• HGNC: 4810
• e!Ensembl: 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

Pathways

KEGG:

Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
Peroxisome

Reactome:

Peroxisomal lipid metabolism
Peroxisomal protein import

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32737333, 36516496	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	28752386		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31127626		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria	Hyperoxaluria	BEFREE	12110000, 28752386		★☆☆☆☆ Found in Text Mining only
Hyperoxaluria Primary	Hyperoxaluria	Pubtator	19758989	Associate	★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	26689264		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26658681		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31127626		★☆☆☆☆ Found in Text Mining only
Primary Hyperoxaluria	Hyperoxaluria	BEFREE	27432743, 29914758		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	40120493	Associate	★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	20054120	Associate	★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	24996905, 26689264, 26758691, 26854734, 30575740		★☆☆☆☆ Found in Text Mining only