Hs03014442_cn

• Gene Symbol: A2M
• Assay Reference Genome Location: Chr.12:9089972 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 Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
A2M	NM_000014.4	21	2761	NP_000005.2
	XM_006719056.2	21	2739	XP_006719119.1
	AB209614.2	21	2672	BAD92851.1
	AK307832.1	20	2498
	AK312482.1	21	2661
	AY591530.1	21	2726	AAT02228.1
	BC026246.1			AAH26246.1
	BC040071.1	21	2700	AAH40071.1
	BX647329.1	4	438
	CR749334.1	21	2719	CAH18188.1
	M11313.1	21	2691	AAA51551.1
	M36501.1	2	155	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	KLRB1 LOC105369728 LOC100506159 A2M LOC374443 LOC101928030 AICDA CD69 LOC105369649 PHC1 MIR1244-3 LOC642846 CLEC2A CLEC12A CLEC4D M6PR LOC105376678 MFAP5 A2MP1 KLRF2 LOC728715 A2ML1 CLEC6A RIMKLB LINC00612 CLEC2D CLEC2B PZP A2M-AS1 CLEC4E DDX12P CLECL1 KLRF1 OVOS LOC101930452 LOC400002 LINC00987 KLRG1
nsv832327	Chr.12:8929183 - 9093624 on Build GRCh38	Loss	A2M-AS1 PHC1 M6PR KLRG1 A2M LINC00612

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