Hs03832797_cn

• Gene Symbol: A2M
• Assay Reference Genome Location: Chr.12:9075958 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: Within Intron 28

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
	AK307832.1
	AK312482.1
	AY591530.1			AAT02228.1
	BC026246.1			AAH26246.1
	BC040071.1			AAH40071.1
	BX647329.1
	CR749334.1			CAH18188.1
	M11313.1			AAA51551.1
	M36501.1			AAA51552.1

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

More Information

• Set Membership: Intragenic, 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