Hs00128408_cn

• Gene Symbol: B2M
• Assay Reference Genome Location: Chr.15:44717554 on build GRCh38
• Cytoband: 15q21.1

Target Gene Details

• Entrez Gene ID: 567
• Gene Name: beta-2-microglobulin
• Gene Aliases: IMD43
• Location: Chr.15:44711487-44718159 on Build GRCh38
• Assay Gene Location: Within Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B2M	NM_004048.2			NP_004039.1
	XM_005254549.3	2	2254	XP_005254606.1
	AB021288.1			BAA35182.1
	AI686916.1
	AK026463.1	1	1758
	AY007153.1			AAG02006.1
	BC032589.1			AAH32589.1
	BC064910.1			AAH64910.1
	BU658737.1
	S54761.1			AAB25312.1
	S82297.1			AAD14387.1
	S82300.1			AAD14388.1
	V00567.1			CAA23830.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832990	Chr.15:44698567 - 44870516 on Build GRCh38	Gain	B2M PATL2 LOC100419583 TRIM69
esv2760029	Chr.15:44676670 - 45130644 on Build GRCh38	Gain+Loss	DUOX2 B2M DUOXA1 DUOX1 SORD TERB2 DUOXA2 PATL2 LOC100419583 TRIM69

More Information

Additional Information:

For this assay, SNP(s) [rs74009404] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

major histocompatibility complex protein

Gene Ontology Categories:

Process(es)

retina homeostasis
positive regulation of T cell mediated cytotoxicity
antigen processing and presentation of peptide antigen via MHC class I
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
positive regulation of T cell cytokine production
regulation of membrane depolarization
negative regulation of neuron projection development
antibacterial humoral response
antigen processing and presentation of endogenous peptide antigen via MHC class I
positive regulation of protein binding
T cell differentiation in thymus
protein refolding
response to drug
cellular protein metabolic process
innate immune response
response to cadmium ion
positive regulation of receptor-mediated endocytosis
regulation of defense response to virus by virus
regulation of immune response
defense response to Gram-negative bacterium
defense response to Gram-positive bacterium
iron ion homeostasis
interferon-gamma-mediated signaling pathway
cellular response to lipopolysaccharide
cellular response to iron ion
negative regulation of receptor binding
positive regulation of receptor binding
positive regulation of ferrous iron import into cell
positive regulation of ferrous iron binding
positive regulation of transferrin receptor binding

Function(s)

glycoprotein binding
protein binding
identical protein binding