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

    Gene ID: 1380, updated on 27-Nov-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CR2 in Genome Data Viewer
    Location:
    1q32.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207454328..207489892)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206719629..206755209)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207627673..207663237)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904498 Neighboring gene uncharacterized LOC105372880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1771 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1772 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:207642622-207643821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2447 Neighboring gene complement C3b/C4b receptor 1 (Knops blood group) Neighboring gene NANOG hESC enhancer GRCh37_chr1:207773753-207774311 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:207806821-207807492 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207808163-207808834 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207808835-207809506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1773 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2448 Neighboring gene CD46 molecule pseudogene 1 Neighboring gene complement C3b/C4b receptor 1 like

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA 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
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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

    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)

    NEW Try the new Transcript table

    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

    1. NG_013006.1 RefSeqGene

      Range
      5001..40596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_348

    mRNA and Protein(s)

    1. NM_001006658.3NP_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:410467
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    2. NM_001877.5NP_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:410467
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      207454328..207489892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      206719629..206755209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)