Hs02874979_cn

• Gene Symbol: A2M
• Assay Reference Genome Location: Chr.12:9067660 on build GRCh38
• Cytoband: 12p13.31

Target Gene Details

• Entrez Gene ID: 2
• Gene Name: alpha-2-macroglobulin
• Gene Aliases: A2MD, CPAMD5, FWP007, S863-7
• Location: Chr.12:9067708-9115962 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 35

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
A2M	NM_000014.4			NP_000005.2
	XM_006719056.2			XP_006719119.1
	AB209614.2			BAD92851.1
	BC040071.1			AAH40071.1

Target Gene Details

• Entrez Gene ID: 144571
• Gene Name: A2M antisense RNA 1 (head to head)
• Gene Aliases: -
• Location: Chr.12:9065177-9068055 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
A2M-AS1	NR_026971.1	3	1792
	AK056852.1	3	1792
	AK096375.1	1	1669

Target Gene Details

• Entrez Gene ID: 10219
• Gene Name: killer cell lectin like receptor G1
• Gene Aliases: 2F1, CLEC15A, MAFA, MAFA-2F1, MAFA-L, MAFA-LIKE
• Location: Chr.12:8989079-9255692 on Build GRCh38
• Assay Gene Location: Within Intron 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLRG1	XM_017018683.1			XP_016874172.1
	XM_017018684.1			XP_016874173.1
	XM_017018685.1			XP_016874174.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1051530	Chr.12:8442286 - 9951690 on Build GRCh38	Gain	LOC101930452 CLECL1 CLEC12A CLEC4E M6PR LINC00987 CLEC2A KLRF1 PHC1 CLEC4D KLRF2 LOC100506159 CLEC2D CD69 KLRB1 A2M-AS1 LOC400002 KLRG1 LOC105369649 LOC374443 A2M LOC728715 OVOS LOC642846 RIMKLB A2MP1 LINC00612 LOC105369728 PZP LOC105376678 A2ML1 MFAP5 MIR1244-3 LOC101928030 CLEC2B AICDA CLEC6A DDX12P
nsv832327	Chr.12:8929183 - 9093624 on Build GRCh38	Loss	A2M-AS1 M6PR PHC1 KLRG1 LINC00612 A2M

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor, transmembrane signal receptor

Gene Ontology Categories:

Process(es)

negative regulation of complement activation, lectin pathway
platelet degranulation
blood coagulation, intrinsic pathway
negative regulation of endopeptidase activity
extracellular matrix disassembly
positive regulation of GTPase activity
stem cell differentiation
regulation of small GTPase mediated signal transduction
inflammatory response
cellular defense response
cell surface receptor signaling pathway
innate immune response

Function(s)

protease binding
serine-type endopeptidase inhibitor activity
GTPase activator activity
receptor binding
protein binding
growth factor binding
enzyme binding
interleukin-8 binding
interleukin-1 binding
tumor necrosis factor binding
calcium-dependent protein binding
receptor activity
carbohydrate binding