Hs00199167_cn

• Gene Symbol: ADAMTSL2
• Assay Reference Genome Location: Chr.9:133534908 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: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ADAMTSL2	NM_001145320.1			NP_001138792.1
	NM_014694.3			NP_055509.2
	XM_005272237.3			XP_005272294.1
	XM_005272238.3			XP_005272295.1
	XM_005272239.2			XP_005272296.1
	XM_011519241.2			XP_011517543.2
	XM_011519242.2			XP_011517544.1
	AB011177.1
	BC050544.1			AAH50544.1

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

More Information

• Set Membership: Intragenic, 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