Hs01108230_cn

• Gene Symbol: HTRA2
• Assay Reference Genome Location: Chr.2:74533462 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: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HTRA2	NM_001321727.1	7	2390	NP_001308656.1
	NM_001321728.1	7	2360	NP_001308657.1
	NM_013247.4	8	2456	NP_037379.1
	NM_145074.2	6	2165	NP_659540.1
	NR_135769.1	8	2496
	NR_135770.1	9	1924
	NR_135771.1	9	1908
	NR_135772.1	9	1928
	BF939362.1	1	336

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	2072	NP_001276093.1
	NM_001289165.1	10	1789	NP_001276094.1
	NM_032603.3	14	2507	NP_115992.1
	XM_011533134.2	14	2467	XP_011531436.1
	XM_017005112.1	12	2111	XP_016860601.1
	AF282619.1	14	2480	AAK51671.1
	AF284815.1	14	2487	AAK91134.1
	AF311313.1	14	2478	AAK63205.1
	AK309478.1	12	2688
	BC033130.1	7	1013	AAH33130.1
	BC071865.1	12	2096	AAH71865.1
	DQ378059.1	10	1789	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	INO80B-WBP1 MRPL53 LBX2-AS1 RTKN LOXL3 MOGS DCTN1-AS1 PCGF1 LBX2 TLX2 C2orf81 SLC4A5 AUP1 CCDC142 DCTN1 INO80B DQX1 WDR54 TTC31 WBP1 HTRA2

More Information

• Set Membership: Intragenic, 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