Hs02513792_cn

• Gene Symbol: ADAM17
• Assay Reference Genome Location: Chr.2:9490343 on build GRCh38
• Cytoband: 2p25.1

Target Gene Details

• Entrez Gene ID: 6868
• Gene Name: ADAM metallopeptidase domain 17
• Gene Aliases: ADAM18, CD156B, CSVP, NISBD, NISBD1, TACE
• Location: Chr.2:9488486-9555820 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADAM17	NM_003183.5	19	2524	NP_003174.3
	XM_011510375.2	19	2543	XP_011508677.1
	XM_011510376.2	19	2512	XP_011508678.1
	XM_011510377.2	14	1897	XP_011508679.1
	XM_017004785.1	19	2545	XP_016860274.1
	XM_017004786.1	18	2237	XP_016860275.1
	AY422721.1	3	346
	BC136783.1	19	2386
	BX339672.2	2	495
	GQ402545.1	19	2492
	U69611.1	19	2423	AAB51514.1
	U69612.1	18	2381	AAB53014.1
	U86755.1	19	2472	AAB51586.1
	U92649.1	19	2473	AAC39721.1

Target Gene Details

• Entrez Gene ID: 285148
• Gene Name: isoamyl acetate-hydrolyzing esterase 1 homolog
• Gene Aliases: -
• Location: Chr.2:9473638-9512403 on Build GRCh38
• Assay Gene Location:

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IAH1	AK297648.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv580915	Chr.2:9168019 - 9704049 on Build GRCh38	Gain	ITGB1BP1 LOC105373418 LOC101926982 ASAP2 ADAM17 CPSF3 IAH1 YWHAQ

More Information

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

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

response to hypoxia
positive regulation of protein phosphorylation
neutrophil mediated immunity
germinal center formation
positive regulation of leukocyte chemotaxis
proteolysis
membrane protein ectodomain proteolysis
cell adhesion
epidermal growth factor receptor signaling pathway
Notch signaling pathway
Notch receptor processing
positive regulation of cell proliferation
positive regulation of T cell chemotaxis
B cell differentiation
positive regulation of cell growth
positive regulation of cell migration
positive regulation of transforming growth factor beta receptor signaling pathway
negative regulation of transforming growth factor beta receptor signaling pathway
membrane protein intracellular domain proteolysis
positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
response to lipopolysaccharide
positive regulation of chemokine production
regulation of mast cell apoptotic process
T cell differentiation in thymus
tumor necrosis factor-mediated signaling pathway
cell adhesion mediated by integrin
wound healing, spreading of epidermal cells
epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway
response to drug
positive regulation of epidermal growth factor-activated receptor activity
spleen development
cell motility
defense response to Gram-positive bacterium
PMA-inducible membrane protein ectodomain proteolysis
positive regulation of cellular component movement
response to high density lipoprotein particle

Function(s)

metalloendopeptidase activity
Notch binding
interleukin-6 receptor binding
integrin binding
protein binding
metallopeptidase activity
zinc ion binding
SH3 domain binding
PDZ domain binding