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FLASH GENE

Symbol

MS4A1

contributors: - updated : 05-09-2007

HGNC name	membrane-spanning 4-domains, subfamily A, member 1
HGNC id	7315

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CVID5 common variable immunodeficiency 5
Location	11q12.2      Physical location : 60.223.281 - 60.238.224
Synonym name	B-lymphocyte cell-surface antigen B1
	CD20 antigen
	B-lymphocyte antigen CD20
	membrane-spanning 4-domains, subfamily A, member 2
	leukocyte surface antigen Leu-16
Synonym symbol(s)	B1CD20, B1, Bp35, MS4A2, CD20, LEU-16, MGC3969, S7

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	14.94 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

Promoter (TATA box)

MAPPING

cloned

Y

linked

Y

status

confirmed

Map

see SEA

RNA

TRANSCRIPTS	type	messenger

text	two transcripts encode the same protein

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_021950 7 - 3331 NP_068769 - 297 - - NM_152866 8 - 3594 NP_690605 - 297 - -

EXPRESSION

Type

widely

constitutive of

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 heart       lowly Digestive pharynx       highly Lymphoid/Immune lymph node       highly   spleen       highly   thymus       highly Nervous brain       lowly Reproductive male system testis     lowly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic         Connective         Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol   mast cell Lymphoid/Immune B cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a short intracellular domain
	four transmembrane segments (4TM)
	a long cytoplasmic tail, involved in intracellular signaling

mono polymer

homomer , dimer

HOMOLOGY

interspecies

homolog to murine Ms4a2 (83 pc)

Homologene

FAMILY

MS4A family

CATEGORY

signaling , receptor membrane

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in the regulation of B cell activation and proliferation
	B cell-specific membrane protein that functions in store-operated calcium entry and serves as a useful target for antibody-mediated therapeutic depletion of B cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

signal transduction

a component

component of oligomeric cell surface complex involved in signal transduction

INTERACTION

DNA

RNA

small molecule

protein

cell & other

constitutively raft-associated

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CVID5

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS