Hs05715121_cn

• Gene Symbol: HAO2
• Assay Reference Genome Location: Chr.1:119385673 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 Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HAO2	NM_001005783.2			NP_001005783.2
	NM_016527.3			NP_057611.1
	XM_011541558.1			XP_011539860.1
	XM_011541559.1			XP_011539861.1
	XM_011541560.1			XP_011539862.1
	XM_011541561.1	4	1098	XP_011539863.1
	XM_017001421.1			XP_016856910.1
	AF203975.1			AAF14000.1
	AF231917.1			AAF40200.1
	AK298289.1
	AY513277.1			AAT08030.1
	BC020863.1			AAH20863.1
	CB121424.1

Target Copy Number Variation Details

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

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

More Information

• Set Membership: Intragenic, 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