CR2 complement C3d receptor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CR2provided by HGNC
Official Full Name: complement C3d receptor 2provided by HGNC
Primary source: HGNC:HGNC:2336
See related: Ensembl:ENSG00000117322 MIM:120650; AllianceGenome:HGNC:2336
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CR; C3DR; CD21; CVID7; SLEB9
Summary: This gene encodes a membrane protein, which functions as a receptor for Epstein-Barr virus (EBV) binding on B and T lymphocytes. Genetic variations in this gene are associated with susceptibility to systemic lupus erythematosus type 9 (SLEB9). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Expression: Biased expression in lymph node (RPKM 99.4), spleen (RPKM 44.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (207454328..207489892)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (206719629..206755209)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (207627673..207663237)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells.
Title: Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells.
Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the Dengue disease severity.
Title: Complement receptor type 1 and 2 (CR1 and CR2) gene polymorphisms and plasma protein levels are associated with the Dengue disease severity.
Identification and Characterization of chCR2, a Protein That Binds Chicken Complement Component 3d.
Title: Identification and Characterization of chCR2, a Protein That Binds Chicken Complement Component 3d.
The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
Title: The expansion of human T-bet(high)CD21(low) B cells is T cell dependent.
Revisiting the Coreceptor Function of Complement Receptor Type 2 (CR2, CD21); Coengagement With the B-Cell Receptor Inhibits the Activation, Proliferation, and Antibody Production of Human B Cells.
Title: Revisiting the Coreceptor Function of Complement Receptor Type 2 (CR2, CD21); Coengagement With the B-Cell Receptor Inhibits the Activation, Proliferation, and Antibody Production of Human B Cells.
Association Between Genetic Polymorphisms of CR2 Gene and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Han Male Population.
Title: Association Between Genetic Polymorphisms of CR2 Gene and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Chinese Han Male Population.
High proportion of anergic B cells in the bone marrow defined phenotypically by CD21(-/low)/CD38- expression predicts poor survival in diffuse large B cell lymphoma.
Title: High proportion of anergic B cells in the bone marrow defined phenotypically by CD21(-/low)/CD38- expression predicts poor survival in diffuse large B cell lymphoma.
Naive- and Memory-like CD21(low) B Cell Subsets Share Core Phenotypic and Signaling Characteristics in Systemic Autoimmune Disorders.
Title: Naive- and Memory-like CD21(low) B Cell Subsets Share Core Phenotypic and Signaling Characteristics in Systemic Autoimmune Disorders.
Notch signaling induces a transcriptionally permissive state at the Complement C3d Receptor 2 (CR2) promoter in a pre-B cell model.
Title: Notch signaling induces a transcriptionally permissive state at the Complement C3d Receptor 2 (CR2) promoter in a pre-B cell model.
Association of complement C3d receptor 2 genotypes with the acquisition of HIV infection in a trial of recombinant glycoprotein 120 vaccine.
Title: Association of complement C3d receptor 2 genotypes with the acquisition of HIV infection in a trial of recombinant glycoprotein 120 vaccine.

Submit: New GeneRIF Correction See all GeneRIFs (96)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency, common variable, 2 MedGen: C3150354 OMIM: 240500 GeneReviews: Not available	Compare labs
Immunodeficiency, common variable, 7 MedGen: C3542922 OMIM: 614699 GeneReviews: Not available	Compare labs
Systemic lupus erythematosus, susceptibility to, 9 MedGen: C1970455 OMIM: 610927 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 transmission to CD4+ T cells from follicular dendritic cells from lymph nodes of infected patients is inhibited by soluble CD21	PubMed
Knockdown of complement component receptor 2 (CR2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 particles (gp120/gp41) bind to MT-2 (CD4+ CR2+) and Raji-3 (CD4- CR2+) cells but not to CEM (CD4+ CR2-) cells, suggesting that the virus binds to CR2 independently of CD4	PubMed
Envelope surface glycoprotein gp160, precursor	env	The activation of mitogen-activated protein kinases (MAPKs, including ERK, JNK, and p38MAPK) is induced by incubation of HIV-1 gp160 with CD4+complement receptor type 2 (CR2)+ cells	PubMed
Vif	vif	HIV-1 Vif downregulates the expression of complement component receptor 2 (CR2) in Vif-expression T cells	PubMed
capsid	gag	HIV-1 CA p24 is localized to recycling endosomes by CR2 (CD21) and soluble CD21 frees virus from follicular dendritic cells from lymph nodes of HIV infected patients	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

CR2_6 (e-PCR)
- UniSTS:277125

SHGC-76269 (e-PCR)
- UniSTS:74997

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables complement binding	IDA Inferred from Direct Assay more info	PubMed
enables complement receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables immunoglobulin receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed
enables virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in B cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in T cell mediated immunity	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, alternative pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in complement receptor mediated signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of complement activation, classical pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: complement receptor type 2

Names: EBV receptor; complement component (3d/Epstein Barr virus) receptor 2; complement component 3d receptor 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_013006.1 RefSeqGene

Range

5001..40596

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_348

mRNA and Protein(s)

NM_001006658.3 → NP_001006659.1 complement receptor type 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_001006659.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK301496, AU133057, AW303499, BQ004295, Y00649

Consensus CDS

CCDS31007.1

UniProtKB/TrEMBL

Q5SR47

Related

ENSP00000356024.3, ENST00000367057.8

Conserved Domains (1) summary

cd00033
Location:410 → 467

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
NM_001877.5 → NP_001868.2 complement receptor type 2 isoform 2 precursor

See identical proteins and their annotated locations for NP_001868.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1, resulting in a shorter isoform (2) lacking an internal protein segment compared to isoform 1.

Source sequence(s)

AK301496, AU133057, AW303499, BQ004295, Y00649

Consensus CDS

CCDS1478.1

UniProtKB/Swiss-Prot

C9JHD2, P20023, Q13866, Q14212, Q53EL2, Q5BKT9, Q5SR46, Q5SR48

UniProtKB/TrEMBL

Q5SR47

Related

ENSP00000356025.3, ENST00000367058.7

Conserved Domains (1) summary

cd00033
Location:410 → 467

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system