Hs06581138_cn

• Gene Symbol: HAO2
• Assay Reference Genome Location: Chr.1:119365339 on build GRCh38
• Cytoband: 1p12

Target Gene Details

• Entrez Gene ID: 51179
• Gene Name: hydroxyacid oxidase 2
• Gene Aliases: GIG16, HAOX2
• Location: Chr.1:119361913-119394130 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAO2	XM_017001421.1			XP_016856910.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2716751	Chr.1:119365280 - 119365403 on Build GRCh38	Deletion	HAO2
esv34089	Chr.1:119209489 - 119530338 on Build GRCh38	Loss	HAO2-IT1 HAO2 LOC101929147 HSD3B1 HSD3B2
esv2761649	Chr.1:119298022 - 119383313 on Build GRCh38	Gain	HAO2-IT1 HAO2
nsv1004662	Chr.1:119304824 - 119612175 on Build GRCh38	Gain	HAO2-IT1 HAO2 HSD3BP4 HSD3B1 LINC00622 HSD3B2
nsv524681	Chr.1:118890895 - 121570001 on Build GRCh38	Gain	NBPF26 REG4 HMGCS2 LOC105378933 LOC101929147 EMBP1 RNVU1-4 HSD3B2 HAO2 LOC100996721 NOTCH2 LOC100996720 FAM72B PHGDH SRGAP2C ADAM30 HSD3BP4 SEC22B LINC00623 TBX15 HSD3B1 LINC00622 WARS2-IT1 LOC105369199 LOC101929798 PPIAL4A FCGR1B LOC100996724 NBPF8 LOC101929796 HAO2-IT1 ZNF697 RNVU1-19 HIST2H2BA PFN1P2 SRGAP2-AS1 NBPF7 LOC100996318 WARS2

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxidoreductase

Gene Ontology Categories:

Process(es)

fatty acid oxidation
cellular lipid metabolic process

Function(s)

(S)-2-hydroxy-acid oxidase activity
receptor binding
FMN binding
very-long-chain-(S)-2-hydroxy-acid oxidase activity
long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity
medium-chain-(S)-2-hydroxy-acid oxidase activity