Hs06143507_cn

• Gene Symbol: PM20D2
• Assay Reference Genome Location: Chr.6:89137966 on build GRCh38
• Cytoband: 6q15

Target Gene Details

• Entrez Gene ID: 135293
• Gene Name: peptidase M20 domain containing 2
• Gene Aliases: ACY1L2, bA63L7.3
• Location: Chr.6:89096879-89165569 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PM20D2	XM_005248662.4			XP_005248719.1
	XM_011535481.2			XP_011533783.1
	XM_017010291.1			XP_016865780.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1023532	Chr.6:89093252 - 89253488 on Build GRCh38	Loss	SRSF12 GABRR1 PM20D2
esv3609897	Chr.6:89136169 - 89141974 on Build GRCh38	Loss	PM20D2
nsv1027007	Chr.6:89099218 - 89628146 on Build GRCh38	Gain	SRSF12 RRAGD ANKRD6 UBE2J1 GABRR2 GABRR1 PM20D2

More Information

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

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

proteolysis
regulation of cellular protein metabolic process

Function(s)

dipeptidase activity