Hs06604698_cn

• Gene Symbol: MASP2
• Assay Reference Genome Location: Chr.1:11046393 on build GRCh38
• Cytoband: 1p36.22

Target Gene Details

• Entrez Gene ID: 10747
• Gene Name: mannan binding lectin serine peptidase 2
• Gene Aliases: MAP19, MASP-2, MASP1P1, sMAP
• Location: Chr.1:11026523-11047239 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MASP2	NM_006610.3			NP_006601.2
	NM_139208.2			NP_631947.1
	XM_017000097.1			XP_016855586.1
	AB008047.1			BAA78616.1
	AK290823.1
	DA638135.1
	X98400.1			CAA67050.1
	Y09926.1			CAA71059.1
	Y18281.1			CAB50728.1
	Y18282.1			CAB50729.1
	Y18283.1			CAB50730.1
	Y18284.1			CAB50731.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832425	Chr.1:10843788 - 11062918 on Build GRCh38	Loss	SRM C1orf127 TARDBP MASP2
esv3585212	Chr.1:11037585 - 11046365 on Build GRCh38	Loss	MASP2
nsv953456	Chr.1:11038744 - 11060143 on Build GRCh38	Deletion	SRM MASP2
nsv545407	Chr.1:11000018 - 11377969 on Build GRCh38	Gain	MTOR ANGPTL7 LOC105376736 SRM EXOSC10 UBIAD1 MTOR-AS1 TARDBP MASP2

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

complement activation, lectin pathway
proteolysis
complement activation
complement activation, classical pathway

Function(s)

complement component C4b binding
serine-type endopeptidase activity
calcium ion binding
protein binding
peptidase activity
calcium-dependent protein binding