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FLASH GENE

Symbol

CR2

contributors: mct/shn - updated : 17-12-2011

HGNC name	complement component (3d/Epstein Barr virus) receptor 2
HGNC id	2336

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CR2 complement component receptor 2 deficiency CVID7 common variable immune deficiency-7
Location	1q32.2      Physical location : 207.627.644 - 207.663.238
Synonym name	cell differentiation antigen CD21, 140 kD, C3d/EBV receptor, identified by monoclonal antibodies B2,HB-5,
	CD21 antigen
	complement C3d receptor
	complement receptor type 1
	Epstein-Barr virus receptor
	EBV receptor
	complement receptor type 2
Synonym symbol(s)	CD21, C3DR, SLEB9, RP11-78B10.1, CR

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	35.60 kb     20 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   transcription factor
text structure	four sites within very close proximity to the transcriptional initiation site, a binding site for the transcription factors USF1 and AP2-like and Sp1 binding site

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D1S2735 - D1S2727 - CR2 CR2 - D1S2796 - D1S2782 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001006658 20 splicing 4170 NP_001006659 - 1092 - - NM_001877 19 splicing 3993 NP_001868 113 1033 - -

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 Digestive intestine small intestine     highly Lymphoid/Immune lymph node       highly   spleen       highly Urinary 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

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 20-amino acid hydrophobic signal peptide
	1005 amino acids having a repeating motif: 16 tandemly arranged repeating elements
	a 28-amino acid probable transmembrane domain
	a 34-amino acid cytoplasmic tail
	(

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to Cr2, Mus musculus
	ortholog to Cr2, Rattus norvegicus
	ortholog to CR2, Pan troglodytes

Homologene

FAMILY

receptors of complement activation (RCA) family

CATEGORY

immunity/defense , antigen , receptor

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	enhancing B cell responses to antigens, and playing a major role in immunity
	B lymphocyte membrane glycoprotein that plays a central role in the immune responses to foreign Ags as well as the development of autoimmunity to nuclear Ags in systemic lupus erythematosus

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	CD23 (
	p53 anti-oncoprotein, p68 calcium binding protein and nuclear p120 ribonucleoprotein (
	complement C3d and Epstein-Barr virus glycoprotein 350/220 (
	CD19 (
	complement component (3b/4b) receptor 1 (Knops blood group) (
	iC3b (
	Interferon alpha, IFN alpha (
	formin (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CVID7 , CR2

Susceptibility

to infections, recurrent, pyogenic to systemic lupus erythematosus (

Variant & Polymorphism SNP	three-single-nucleotide polymorphism increasing the risk of lupus

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice deficient in CR1/2 have a significantly increased acute CVB3 myocarditis and pericardial fibrosis resulting in early progression to dilated cardiomyopathy and heart failure (