1. Gene
  2. HAO2 - hydroxyacid oxidase 2 Gene

HAO2 - hydroxyacid oxidase 2 Gene

Homo sapiens

Also known as GIG16; HAOX2

Gene ID: 51179 | Gene type: protein coding

About HAO2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,368,785-119,394,130 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues and 2 paralogues. Biased expression in kidney (RPKM 63.1) and liver (RPKM 51.5).

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 variants. [provided by RefSeq, Jul 2014]

HAO2 Products(3)

mRNA Protein Name
NM_001005783.3 NP_001005783.2 2-Hydroxyacid oxidase 2 isoform 2
NM_001377472.1 NP_001364401.1 2-Hydroxyacid oxidase 2 isoform 3
NM_016527.4 NP_057611.1 2-Hydroxyacid oxidase 2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables (S)-2-hydroxy-acid oxidase activity IDA
IDA: Inferred from direct assay
10777549 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
Biological Process GO Annotation Evidence Reference Source
involved in fatty acid oxidation IDA
IDA: Inferred from direct assay
10777549 GOA
Cellular Component GO Annotation Evidence Reference Source
located in peroxisomal matrix IDA
IDA: Inferred from direct assay
10777549 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAO2 Protein Structure

FMN_dh

FMN_dh: FMN-dependent dehydrogenase (13 - 347)

  • 0
  • 100
  • 200
  • 300
  • 351 a.a.
Protein Preferred Names Protein Names

2-Hydroxyacid oxidase 2

(S)-2-hydroxy-acid oxidase, peroxisomal

HAO2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
HAO2 Q9NYQ3 SEC14L4 Homo sapiens Q9UDX3 32296183
Intra
HAO2 Q9NYQ3 SEC14L4 Homo sapiens Q9UDX3 32296183
Intra
HAO2 Q9NYQ3 SEC14L4 Homo sapiens Q9UDX3 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Histidinemia

Histidine Ammonia-Lyase Deficiency

Hal Deficiency

Histidase Deficiency

His Deficiency

Histidinuria

Hyperhistidinemia

HISTID

Histidinuria Renal Tubular Defect

Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta HAO2 VGNC VGNC:81416
Canis familiaris HAO2 VGNC VGNC:41591
Rattus norvegicus HAO2 RGD RGD:70972
Bos taurus HAO2 VGNC VGNC:29748
Mus musculus HAO2 MGD MGI:96012
Felis catus HAO2 VGNC VGNC:80227