Hs02000182_cn

• Gene Symbol: HTRA2
• Assay Reference Genome Location: Chr.2:74532837 on build GRCh38
• Cytoband: 2p13.1

Target Gene Details

• Entrez Gene ID: 27429
• Gene Name: HtrA serine peptidase 2
• Gene Aliases: OMI, PARK13, PRSS25
• Location: Chr.2:74529405-74533556 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HTRA2	NM_001321727.1			NP_001308656.1
	NM_001321728.1			NP_001308657.1
	NM_013247.4			NP_037379.1
	NM_145074.2			NP_659540.1
	NR_135769.1
	NR_135770.1
	NR_135771.1
	NR_135772.1
	AF020760.2			AAB94569.2
	AF141305.1			AAF66596.1
	AF141306.1			AAF66597.1
	AF141307.1			AAF66598.1
	AF184911.1			AAG13126.1
	AK225932.1
	AK291977.1
	BC000096.2			AAH00096.1

Target Gene Details

• Entrez Gene ID: 84695
• Gene Name: lysyl oxidase like 3
• Gene Aliases: LOXL
• Location: Chr.2:74532258-74555709 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOXL3	NM_001289164.1	12	2697	NP_001276093.1
	NM_001289165.1	10	2414	NP_001276094.1
	NM_032603.3	14	3132	NP_115992.1
	AF311313.1			AAK63205.1
	DQ378059.1	10	2414	ABD23013.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759061	Chr.2:74252797 - 74535298 on Build GRCh38	Loss	MRPL53 SLC4A5 PCGF1 INO80B TLX2 INO80B-WBP1 LBX2-AS1 DCTN1-AS1 AUP1 DQX1 CCDC142 DCTN1 C2orf81 WDR54 LOXL3 TTC31 HTRA2 WBP1 MOGS RTKN LBX2

More Information

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

Panther Classification:

Molecular Function -

serine protease, oxidase

Gene Ontology Categories:

Process(es)

proteolysis
ceramide metabolic process
mitochondrion organization
adult walking behavior
intrinsic apoptotic signaling pathway in response to DNA damage
response to herbicide
positive regulation of cell death
protein autoprocessing
pentacyclic triterpenoid metabolic process
forebrain development
cellular response to oxidative stress
cellular response to heat
cellular response to interferon-beta
regulation of multicellular organism growth
positive regulation of apoptotic process
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
cellular protein catabolic process
negative regulation of cell cycle
neuron development
cellular response to retinoic acid
cellular response to growth factor stimulus
execution phase of apoptosis
negative regulation of neuron death
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
regulation of mitophagy
positive regulation of protein targeting to mitochondrion
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
epithelial to mesenchymal transition
receptor-mediated endocytosis
negative regulation of transcription, DNA-templated
oxidation-reduction process

Function(s)

serine-type endopeptidase activity
protein binding
peptidase activity
serine-type peptidase activity
unfolded protein binding
protein-lysine 6-oxidase activity
scavenger receptor activity
copper ion binding