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FLASH GENE

Symbol

B2M

contributors: mct - updated : 08-09-2017

HGNC name	beta-2-microglobulin
HGNC id	914

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AFHR amyloidosis familial, hemodialysis-related (B2M deposit) IMD43 Immunodeficiency 43
Location	15q21.1      Physical location : 45.003.684 - 45.010.356
Synonym name	beta chain of MHC class I molecules

DNA

TYPE	functioning gene
STRUCTURE	6.67 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004048 4 - 987 NP_004039 - 119 - 2017 28468825 a 20 aa signal peptide of 2 kda a 99 mature peptide of 11.7 kda

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel       highly Digestive esophagus       highly   mouth       highly   pancreas exocrine       highly   pharynx       predominantly   stomach       highly Endocrine adrenal gland       highly Lymphoid/Immune lymph node       highly Reproductive female system uterus       Respiratory lung       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     highly Connective adipose     highly Epithelial barrier/lining

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage
cell lines
fluid/secretion	highly in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 20 aa signal peptide of 2 kda
	an Ig-like C1-type (immunoglobulin-like) domain

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to rattus B2m (69.8 pc)
	homolog to murine B2m (68.1 pc)

Homologene

FAMILY	Ig superfamily
	beta-2-microglobulin family

CATEGORY

secretory , transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,cytosolic
text	secreted

basic FUNCTION

involved in antigen processing and presentation of peptide antigen via MHC class I

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

being a beta-chain of major histocompatibility complex class I molecules

INTERACTION

DNA

RNA

small molecule

protein	CD1A, CD1B, CD1C associated
	interacting with the NTR (netrin-like) domain of PCOLCE (Morimoto 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AFHR , IMD43

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     in tumoral cells with loss of HLA class 1 antigen

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS