HAO2 hydroxyacid oxidase 2 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity of Hepatocellular Carcinoma and Is Negatively Regulated by miR-615-5p.
Title: Hydroxyacid Oxidase 2 (HAO2) Inhibits the Tumorigenicity of Hepatocellular Carcinoma and Is Negatively Regulated by miR-615-5p.
miR-1293 Suppresses Tumor Malignancy by Targeting Hydrocyanic Oxidase 2: Therapeutic Potential of a miR-1293/Hydrocyanic Oxidase 2 Axis in Renal Cell Carcinoma.
Title: miR-1293 Suppresses Tumor Malignancy by Targeting Hydrocyanic Oxidase 2: Therapeutic Potential of a miR-1293/Hydrocyanic Oxidase 2 Axis in Renal Cell Carcinoma.
Overexpression of HAO2 by plasmid promoted lipid catabolic process, eliminated lipid accumulation, inhibited KRAS expression, controlled the proliferation, migration, and invasion activity of clear cell renal cell carcinoma (ccRCC) tumor cells
Title: HAO2 inhibits malignancy of clear cell renal cell carcinoma by promoting lipid catabolic process.
Dysregulation of HAO2 is a very early event in the development of hepatocellular carcinoma (HCC).
Title: The metabolic gene HAO2 is downregulated in hepatocellular carcinoma and predicts metastasis and poor survival.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102259 (e-PCR)
- UniSTS:96593

AL009854 (e-PCR)
- UniSTS:24728

HAO2_8036 (e-PCR)
- UniSTS:467708

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

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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

EC 1.1.3.15

NP_001364401.1

EC 1.1.3.15

NP_057611.1

EC 1.1.3.15

XP_011539863.2

EC 1.1.3.15

XP_024303252.1

EC 1.1.3.15

XP_024303253.1

EC 1.1.3.15

XP_024303254.1

EC 1.1.3.15

XP_024303260.1

EC 1.1.3.15

XP_024303263.1

EC 1.1.3.15

XP_047278110.1

EC 1.1.3.15

XP_054192883.1

EC 1.1.3.15

XP_054192884.1

EC 1.1.3.15

XP_054192885.1

EC 1.1.3.15

XP_054192886.1

EC 1.1.3.15

XP_054192887.1

EC 1.1.3.15

XP_054192888.1

EC 1.1.3.15

XP_054192889.1

EC 1.1.3.15

XP_054192890.1

EC 1.1.3.15

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

NG_011967.1 RefSeqGene

Range

5007..30352

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001005783.3 → NP_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:21 → 356

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:27 → 360

FMN_dh; FMN-dependent dehydrogenase
NM_001377472.1 → NP_001364401.1 2-Hydroxyacid oxidase 2 isoform 3

Status: REVIEWED

Source sequence(s)

AL139346, AL359553

Conserved Domains (1) summary

cd02809
Location:21 → 286

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 ...
NM_016527.4 → NP_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:8 → 343

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

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

119368785..119394130

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447484.2 → XP_024303252.1 2-Hydroxyacid oxidase 2 isoform X1

Conserved Domains (1) summary

cd02809
Location:21 → 326

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 ...
XM_024447492.2 → XP_024303260.1 2-Hydroxyacid oxidase 2 isoform X4

Conserved Domains (1) summary

cd02809
Location:21 → 256

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 ...
XM_047422154.1 → XP_047278110.1 2-Hydroxyacid oxidase 2 isoform X5
XM_024447486.2 → XP_024303254.1 2-Hydroxyacid oxidase 2 isoform X3

Conserved Domains (1) summary

cd02809
Location:21 → 301

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 ...
XM_024447495.2 → XP_024303263.1 2-Hydroxyacid oxidase 2 isoform X6

Conserved Domains (1) summary

cd02809
Location:21 → 261

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 ...
XM_024447485.2 → XP_024303253.1 2-Hydroxyacid oxidase 2 isoform X2

Conserved Domains (1) summary

cd02809
Location:8 → 313

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 ...
XM_011541561.3 → XP_011539863.2 2-Hydroxyacid oxidase 2 isoform X7

Conserved Domains (1) summary

cd02809
Location:21 → 178

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 ...