Hs07149046_cn

• Gene Symbol: HPN
• Assay Reference Genome Location: Chr.19:35045496 on build GRCh38
• Cytoband: 19q13.11

Target Gene Details

• Entrez Gene ID: 3249
• Gene Name: hepsin
• Gene Aliases: TMPRSS1
• Location: Chr.19:35040506-35066573 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
HPN	NM_002151.2			NP_002142.1
	NM_182983.2			NP_892028.1
	XM_005258838.4			XP_005258895.2
	XM_006723181.3			XP_006723244.2
	XM_017026731.1			XP_016882220.1
	AK315655.1
	BC025716.1			AAH25716.1
	EU644753.1
	M18930.1			AAA36013.1
	X07732.1			CAA30558.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2718489	Chr.19:35045309 - 35046268 on Build GRCh38	Deletion	HPN

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

proteolysis
regulation of cell shape
positive regulation of gene expression
negative regulation of epithelial to mesenchymal transition
positive regulation of plasminogen activation
positive regulation of cell growth
basement membrane disassembly
negative regulation of apoptotic process
positive regulation by host of viral transcription
hepatocyte growth factor receptor signaling pathway
negative regulation of epithelial cell proliferation
detection of mechanical stimulus involved in sensory perception of sound
potassium ion transmembrane transport
cochlea morphogenesis
response to thyroid hormone
pilomotor reflex
positive regulation of hepatocyte proliferation
positive regulation of thyroid hormone generation

Function(s)

serine-type endopeptidase activity
protein binding
peptidase activity
serine-type peptidase activity
calcium-activated potassium channel activity
serine-type exopeptidase activity