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FLASH GENE

Symbol

CD46

contributors: mct - updated : 25-06-2011

HGNC name	CD46 molecule, complement regulatory protein
HGNC id	6953

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1q32.2      Physical location : 207.925.382 - 207.968.860
Synonym name	antigen CD46, gp45-70 identified by monoclonal antibodies HuLym5 (E43), 122-2, J48
	membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)
	antigen identified by monoclonal antibody TRA-2-10
	CD46 antigen, complement regulatory protein
	trophoblast leukocyte common antigen
	measles virus receptor
Synonym symbol(s)	MCP, D1S2240E, TLX, MIC10, TRA2.10, MGC26544

DNA

TYPE	functioning gene
STRUCTURE	43.48 kb     14 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see RCA@

RNA

TRANSCRIPTS	type	messenger

text	multiple isoforms are created following alternative splicing, with two major isoforms produced that are characterized by different cytoplasmic tailsthat contain signaling motifs; referred to here as Cyt1 and Cyt2

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002389 14 - 3402 43.7 392 - 2005 16254377 NM_172351 13 - 3357 - 377 - 2005 16254377 NM_172359 13 - 3309 - 377 - 2005 16254377 NM_153826 12 - 3264 - 384 - 2005 16254377 NM_172352 12 - 3312 - 362 - 2005 16254377 NM_172353 11 - 3219 - 369 - 2005 16254377 NM_172361 10 - 3177 - 355 - 2005 16254377 NM_172350 10 - 3155 - 349 - 2005 16254377

EXPRESSION

Type

widely

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 Digestive liver       highly Endocrine pancreas         Reproductive female system placenta     highly Respiratory lung         Urinary bladder       highly   kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	placenta, trophoblast, pancreas

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four short consensus repeats
	sushi structure (SRC) in the ectodomain (see F13B,SRCP1)
	a serine-proline- rich domain
	a cytoplasmic tail
	two C-terminal splice variants Cyt1, and Cyt2

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

CATEGORY

immunity/defense , antigen , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	playing a role in T-cell regulation and in T cell-mediated inflammatory responses
	measles virus receptor
	complement regulatory receptor for C3b and involved in regulation of complement activation
	preventing complement activation in the syncytiotrophoblast layer of placenta
	importance of CD46 as a cell target that might confer pathogens some biological advantages over the host
	CD46-induced Tregs might play a role in intestinal immune homeostasis where they could dampen unwanted effector T cell responses through local IL10/granzyme B production
	CD46-induced Treg enhance B-cell responses
	surface receptor able to bind several different pathogens, and sufficient to induce autophagy
	upon microorganism recognition, cell surface pathogen receptor that can directly trigger autophagy, a critical step to control infection
	having complement and T cell regulatory functions in human cells
	functions primarily as a complement control protein by preventing host cell lysis by autologous complement
	ligation of CD46 influences T cell signaling, proliferation and fate
	C3AR1 and CD46 activation via intrinsic generation of their respective ligands is an integral part of human Th1 (but not Th2) immunity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

reproduction/sex

PATHWAY

metabolism

signaling

maybe involved in spermatozoa fusion with ovocyte during fertilization

a component

INTERACTION

DNA

RNA

small molecule

protein	multiple beta 1 integrins and tetraspans
	MCP/CD3 costimulating VAV,RAC and extracellular signal-related kinase mitogen-activated protein kinase
	CD46 ligation by complement or pathogens affects the biological functions of diverse immune cells such as macrophages, dendritic cells and T cells

cell & other

REGULATION

activated by	upregulated on keratinocytes by TGFB1,TGFB2,TGFB3
	HBXIP, that upregulates CD46, CD55 and CD59 through p-ERK1/2/NFKB signaling to protect breast cancer from complement-dependent cytotoxicity

Other	cleaved by presenilin/gamma-secretase in response to Neisseria infection

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to measles to familial hemolytic and uremic syndrome and meningococcal disease

Variant & Polymorphism SNP , insertion/deletion	T2232C increasing the risk of atypical hemolytic and uremic syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS