Hs01103204_cn

• Gene Symbol: A2M
• Assay Reference Genome Location: Chr.12:9068849 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 Intron 33 - Exon 34

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

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