• Gene id: 51179

Gene Summary

• Gene Symbol: HAO2   Gene   UCSC   Ensembl
• Aliases: GIG16, HAOX2
• Gene name: hydroxyacid oxidase 2
• Alternate names: hydroxyacid oxidase 2, (S)-2-hydroxy-acid oxidase, peroxisomal, cell growth-inhibiting gene 16 protein, glycolate oxidase, hydroxyacid oxidase 2 (long chain), long chain alpha-hydroxy acid oxidase, long-chain L-2-hydroxy acid oxidase,
• Gene location: 1p12 (119361912: 119394129)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 605176

Protein Summary

• Protein general information: Q9NYQ3  
  • Name: 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)
  • Length: 351  
  • Mass: 38839
  • Tissue specificity: Liver and kidney.
• Sequence:

  MSLVCLTDFQAHAREQLSKSTRDFIEGGADDSITRDDNIAAFKRIRLRPRYLRDVSEVDTRTTIQGEEISAPICI
  APTGFHCLVWPDGEMSTARAAQAAGICYITSTFASCSLEDIVIAAPEGLRWFQLYVHPDLQLNKQLIQRVESLGF
  KALVITLDTPVCGNRRHDIRNQLRRNLTLTDLQSPKKGNAIPYFQMTPISTSLCWNDLSWFQSITRLPIILKGIL
  TKEDAELAVKHNVQGIIVSNHGGRQLDEVLASIDALTEVVAAVKGKIEVYLDGGVRTGNDVLKALALGAKCIFLG
  RPILWGLACKGEHGVKEVLNILTNEFHTSMALTGCRSVAEINRNLVQFSRL

• Structural information:
  • Protein Domains: (2..35-)
    acid (/note="FMN-hydroxy)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00683"-)
  • Interpro: IPR013785  IPR012133  IPR000262  IPR037396  IPR008259  
  • Prosite: PS00557 PS51349
  • CDD: cd02809
  • STRING: ENSP00000483507
• Other Databases: GeneCards:  HAO2  Malacards:  HAO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004459	L-lactate dehydrogenase activity	IBA	molecular function
GO:0019516	lactate oxidation	IBA	biological process
GO:0035499	carnosine biosynthetic process	IBA	biological process
GO:0047730	carnosine synthase activity	IBA	molecular function
GO:0010181	FMN binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0052854	medium-chain-(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0052852	very-long-chain-(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0052853	long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity	IEA	molecular function
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IEA	molecular function
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005782	peroxisomal matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006625	protein targeting to peroxisome	TAS	biological process
GO:0009062	fatty acid catabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005777	peroxisome	IEA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0003973	(S)-2-hydroxy-acid oxidase activity	IDA	molecular function
GO:0052853	long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity	IDA	molecular function
GO:0019395	fatty acid oxidation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa04146	Peroxisome
hsa00630	Glyoxylate and dicarboxylate metabolism

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)