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HAO2 hydroxyacid oxidase 2 [ Homo sapiens (human) ]

Gene ID: 51179, updated on 25-Nov-2021

Summary

Official Symbol
HAO2provided by HGNC
Official Full Name
hydroxyacid oxidase 2provided by HGNC
Primary source
HGNC:HGNC:4810
See related
Ensembl:ENSG00000116882 MIM:605176
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GIG16; HAOX2
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]
Expression
Biased expression in kidney (RPKM 63.1) and liver (RPKM 51.5) See more
Orthologs
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Genomic context

See HAO2 in Genome Data Viewer
Location:
1p12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (119361913..119394130)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (119911408..119936753)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene WARS2 antisense RNA 1 Neighboring gene uncharacterized LOC107985192 Neighboring gene long intergenic non-protein coding RNA 1780 Neighboring gene RNA, U1 small nuclear 75, pseudogene Neighboring gene HAO2 intronic transcript 1 Neighboring gene HSD3B2 5' regulatory region Neighboring gene hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 74

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (S)-2-hydroxy-acid oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables FMN binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in fatty acid oxidation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
hydroxyacid oxidase 2
Names
(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
NP_001005783.2
NP_001364401.1
NP_057611.1
XP_011539860.1
XP_011539863.2
XP_016856910.1
XP_024303252.1
XP_024303253.1
XP_024303254.1
XP_024303260.1
XP_024303263.1
XP_024303266.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011967.1 RefSeqGene

    Range
    5007..30352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005783.3NP_001005783.2  hydroxyacid oxidase 2 isoform 2

    See identical proteins and their annotated locations for NP_001005783.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a longer N-terminus than isoform 1.
    Source sequence(s)
    AA919149, AF231917, AK298289, BC020863
    Consensus CDS
    CCDS76196.1
    UniProtKB/Swiss-Prot
    Q9NYQ3
    Related
    ENSP00000354314.4, ENST00000361035.8
    Conserved Domains (2) summary
    cd02809
    Location:21356
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
    pfam01070
    Location:27360
    FMN_dh; FMN-dependent dehydrogenase
  2. NM_001377472.1NP_001364401.1  hydroxyacid oxidase 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL139346, AL359553
    Conserved Domains (1) summary
    cd02809
    Location:21286
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  3. NM_016527.4NP_057611.1  hydroxyacid oxidase 2 isoform 1

    See identical proteins and their annotated locations for NP_057611.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript. The encoded isoform (1) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AA919149, AF231917, AK298289, BC020863
    Consensus CDS
    CCDS901.1
    UniProtKB/Swiss-Prot
    Q9NYQ3
    Related
    ENSP00000316339.3, ENST00000325945.4
    Conserved Domains (1) summary
    cd02809
    Location:8343
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    119361913..119394130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001421.1XP_016856910.1  hydroxyacid oxidase 2 isoform X1

    Conserved Domains (1) summary
    cd02809
    Location:21326
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  2. XM_011541558.2XP_011539860.1  hydroxyacid oxidase 2 isoform X4

    Conserved Domains (2) summary
    PLN02493
    Location:1311
    PLN02493; probable peroxisomal (S)-2-hydroxy-acid oxidase
    cd02809
    Location:8288
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  3. XM_024447486.1XP_024303254.1  hydroxyacid oxidase 2 isoform X3

    Conserved Domains (1) summary
    cd02809
    Location:21301
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  4. XM_024447485.1XP_024303253.1  hydroxyacid oxidase 2 isoform X2

    Conserved Domains (1) summary
    cd02809
    Location:8313
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  5. XM_024447492.1XP_024303260.1  hydroxyacid oxidase 2 isoform X5

    Conserved Domains (1) summary
    cd02809
    Location:21256
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  6. XM_024447484.1XP_024303252.1  hydroxyacid oxidase 2 isoform X1

    Conserved Domains (1) summary
    cd02809
    Location:21326
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  7. XM_024447495.1XP_024303263.1  hydroxyacid oxidase 2 isoform X7

    Conserved Domains (1) summary
    cd02809
    Location:21261
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
  8. XM_024447498.1XP_024303266.1  hydroxyacid oxidase 2 isoform X9

    Conserved Domains (1) summary
    cl28888
    Location:21153
    TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...
  9. XM_011541561.2XP_011539863.2  hydroxyacid oxidase 2 isoform X8

    Conserved Domains (1) summary
    cd02809
    Location:21178
    alpha_hydroxyacid_oxid_FMN; Family of homologous FMN-dependent alpha-hydroxyacid oxidizing enzymes. This family occurs in both prokaryotes and eukaryotes. Members of this family include flavocytochrome b2 (FCB2), glycolate oxidase (GOX), lactate monooxygenase (LMO), mandelate ...
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