Hs06875314_cn

• Gene Symbol: ADAMTSL2
• Assay Reference Genome Location: Chr.9:133534099 on build GRCh38
• Cytoband: 9q34.2

Target Gene Details

• Entrez Gene ID: 9719
• Gene Name: ADAMTS like 2
• Gene Aliases: GPHYSD1
• Location: Chr.9:133532164-133575519 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADAMTSL2	NM_001145320.1			NP_001138792.1
	AB011177.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	MIR3689D2 PPP1R26 RXRA RPL7A ADAMTSL2 SNORD36C MIR3689F OBP2B GFI1B LOC101928525 MRPS2 SURF6 MIR6877 SNORD24 LCN1 FCN1 AK8 CACFD1 LOC100996574 MIR4669 FAM163B LOC101928193 GBGT1 FCN2 MIR548AW RALGDS C9orf116 SURF2 ABO VAV2 CELP LOC100130548 LOC101448202 MED22 DBH-AS1 SPACA9 GTF3C5 BRD3 ADAMTS13 SNORD36A MIR3689A C9orf62 SURF4 COL5A1-AS1 COL5A1 LOC105376306 TMEM8C MIR3689E LOC401557 SNORD36B TSC1 SURF1 STKLD1 OLFM1 MIR3689C LINC00094 SNORD141A SLC2A6 REXO4 MIR3689B CEL PPP1R26-AS1 RNU6ATAC MIR3689D1 WDR5 DBH SARDH
nsv951799	Chr.9:133473579 - 133617678 on Build GRCh38	Deletion	FAM163B ADAMTSL2 TMEM8C SLC2A6
nsv615637	Chr.9:133532712 - 133539394 on Build GRCh38	Loss	ADAMTSL2

More Information

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

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
extracellular matrix organization
negative regulation of transforming growth factor beta receptor signaling pathway
lobar bronchus epithelium development

Function(s)

metalloendopeptidase activity
protein binding
zinc ion binding
microfibril binding