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HAO2 hydroxyacid oxidase 2 [ Homo sapiens (human) ]

Gene ID: 51179, updated on 17-Jun-2024

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; AllianceGenome:HGNC:4810
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:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (119368785..119394130)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (119375119..119407329)
105.20220307 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 small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:119836037-119836616 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:119836617-119837196 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:119837197-119837776 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:119868596-119869458 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:119869459-119870319 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:119870320-119871181 Neighboring gene long intergenic non-protein coding RNA 1780 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:119883491-119884293 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:119884294-119885095 Neighboring gene RNA, U1 small nuclear 75, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1593 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:119900810-119902009 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (S)-2-hydroxy-acid oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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 alpha-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
is_active_in peroxisomal matrix IBA
Inferred from Biological aspect of Ancestor
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
2-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_011539863.2
XP_024303252.1
XP_024303253.1
XP_024303254.1
XP_024303260.1
XP_024303263.1
XP_047278110.1
XP_054192883.1
XP_054192884.1
XP_054192885.1
XP_054192886.1
XP_054192887.1
XP_054192888.1
XP_054192889.1
XP_054192890.1

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  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  2-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  2-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
    Q2TU86, Q5QP00, Q9NYQ3, Q9UJS6
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    119368785..119394130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447484.2XP_024303252.1  2-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_024447492.2XP_024303260.1  2-Hydroxyacid oxidase 2 isoform X4

    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 ...
  3. XM_047422154.1XP_047278110.1  2-Hydroxyacid oxidase 2 isoform X5

  4. XM_024447486.2XP_024303254.1  2-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 ...
  5. XM_024447495.2XP_024303263.1  2-Hydroxyacid oxidase 2 isoform X6

    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 ...
  6. XM_024447485.2XP_024303253.1  2-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 ...
  7. XM_011541561.3XP_011539863.2  2-Hydroxyacid oxidase 2 isoform X7

    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 ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    119375119..119407329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336909.1XP_054192884.1  2-Hydroxyacid oxidase 2 isoform X8

  2. XM_054336908.1XP_054192883.1  2-Hydroxyacid oxidase 2 isoform X8

  3. XM_054336912.1XP_054192887.1  2-Hydroxyacid oxidase 2 isoform X11

  4. XM_054336913.1XP_054192888.1  2-Hydroxyacid oxidase 2 isoform X5

  5. XM_054336911.1XP_054192886.1  2-Hydroxyacid oxidase 2 isoform X10

  6. XM_054336914.1XP_054192889.1  2-Hydroxyacid oxidase 2 isoform X6

  7. XM_054336910.1XP_054192885.1  2-Hydroxyacid oxidase 2 isoform X9

  8. XM_054336915.1XP_054192890.1  2-Hydroxyacid oxidase 2 isoform X7