CR2 (complement C3d receptor 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1380
Gene name Complement C3d receptor 2
Gene symbol CR2
Synonyms (NCBI Gene)
C3DRCD21CRCVID7SLEB9
Chromosome 1
Chromosome location 1q32.2
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). Alternative
SNPs SNP information provided by dbSNP.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
SNP ID Visualize variation Clinical significance Consequence
rs17615 G>A Benign, risk-factor Coding sequence variant, missense variant
rs1048971 G>A,T Benign, risk-factor Coding sequence variant, synonymous variant
rs3813946 T>C Risk-factor Genic upstream transcript variant, 5 prime UTR variant
rs75282758 C>G,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs143614333 G>A,C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT021795 hsa-miR-132-3p Microarray 17612493
MIRT907918 hsa-miR-548ag CLIP-seq
MIRT907919 hsa-miR-548ai CLIP-seq
MIRT907920 hsa-miR-548m CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
Transcription factor Regulation Reference
ARID3A Unknown 19487031
CEBPB Unknown 19487031
CUX1 Unknown 19487031
NFKB1 Unknown 12444129
RBPJ Unknown 19487031
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0001618 Function Virus receptor activity NAS 2827171
GO:0001848 Function Complement binding IDA 11034390
GO:0001848 Function Complement binding IEA
GO:0002376 Process Immune system process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120650 2336 ENSG00000117322
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20023
Protein name Complement receptor type 2 (Cr2) (Complement C3d receptor) (Epstein-Barr virus receptor) (EBV receptor) (CD antigen CD21)
Protein function Serves as a receptor for various ligands including complement component CD3d, HNRNPU OR IFNA1 (PubMed:1849076, PubMed:21527715, PubMed:7753047). When C3d is bound to antigens, attaches to C3d on B-cell surface and thereby facilitates the recogni
PDB 1GHQ , 1LY2 , 1W2R , 1W2S , 2ATY , 2GSX , 3OED , 8SM0 , 8ZNI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 23 → 82 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 91 → 146 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 154 → 210 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 215 → 271 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 276 → 342 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 351 → 406 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 410 → 466 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 527 → 593 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 602 → 657 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 719 → 779 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 788 → 843 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 851 → 907 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 912 → 968 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Mature B-lymphocytes, T-lymphocytes, pharyngeal epithelial cells, astrocytes and follicular dendritic cells of the spleen.
Sequence 
MGAAGLLGVFLALVAPGVLGISCGSPPPILNGRISYYSTPIAVGTVIRYSCSGTFRLIGE
KSLLCITKDKVDGTWDKPAPKCEYFNKYSSCPEPIVPGGYKIRGSTPYRHGDSVTFACKT
NFSMNGNKSVWCQANNMWGPTRLPTCVSVFPLECPALPMIHNGHHTSENVGSIAPGLSVT
YSCESGYLLVGEKIINCLSSGKWSAVPPTCEEARCKSLGRFPNGKVKEPPILRVGVTANF
FCDEGYRLQGPPSSRCVIAGQGVAWTKMPVCEEIFCPSPPPILNGRHIGNSLANVSYGSI
VTYTCDPDPEEGVNFILIGESTLRCTVDSQKTGTWSGPAPRCELSTSAVQCPHPQILRGR
MVSGQKDRYTYNDTVIFACMFGFTLKGSKQIRCNAQGTWEPSAPVCEKECQAPPNILNGQ
KEDRHMVRFDPGTSIKYSCNPGYVLVGEESIQCTSEGVWTPPVPQCKVAACEATGRQLLT
KPQHQFVRPDVNSSCGEGYKLSGSVYQECQGTIPWFMEIRLCKEITCPPPPVIYNGAHTG
SSLEDFPYGTTVTYTCNPGPERGVEFSLIGESTIRCTSNDQERGTWSGPAPLCKLSLLAV
QCSHVHIANGYKISGKEAPYFYNDTVTFKCYSGFTLKGSSQIRCKADNTWDPEIPVCEKE
TCQHVRQSLQELPAGSRVELVNTSCQDGYQLTGHAYQMCQDAENGIWFKKIPLCKVIHCH
PPPVIVNGKHTGMMAENFLYGNEVSYECDQGFYLLGEKKLQCRSDSKGHGSWSGPSPQCL
RSPPVTRCPNPEVKHGYKLNKTHSAYSHNDIVYVDCNPGFIMNGSRVIRCHTDNTWVPGV
PTCIKKAFIGCPPPPKTPNGNHTGGNIARFSPGMSILYSCDQGYLLVGEALLLCTHEGTW
SQPAPHCKEVNCSSPADMDGIQKGLEPRKMYQYGAVVTLECEDGYMLEGSPQSQCQSDHQ
WNPPLAVCRSRSLAPVLCGIAAGLILLTFLIVITLYVISKHRARNYYTDTSQKEAFHLEA
REVYSVDPYNPAS
Sequence length 1033
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades
Hematopoietic cell lineage
B cell receptor signaling pathway
Epstein-Barr virus infection 		  Regulation of Complement cascade
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CR2-related disorder Likely pathogenic; Pathogenic rs200320927, rs747832403 RCV004548694
RCV004548147
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 2 Likely pathogenic rs1658388636 RCV001195879
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency, common variable, 7 Pathogenic; Likely pathogenic rs868255776, rs1658223688, rs766671758, rs1658357615, rs1334688271, rs764859619, rs200320927, rs1365226221, rs1658562210, rs2102307813, rs2102308703, rs747832403, rs867610056, rs747713309, rs2527225441
View all (27 more)		 RCV001316364
RCV001317243
RCV001321094
RCV001352395
RCV001370615
View all (38 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic lupus erythematosus, susceptibility to, 9 Likely pathogenic rs2527215447 RCV003989426
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (13)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMMON VARIABLE IMMUNODEFICIENCY — CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY PHENOTYPE DUE TO CD21 DEFICIENCY — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (116)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 22382878
★★★★★
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 15514968
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 26325596 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 26625115 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioedemas Hereditary Angioedema Pubtator 22288585 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioimmunoblastic Lymphadenopathy Angioimmunoblastic T-cell lymphoma BEFREE 27158755, 31283630
★★★★★
★☆☆☆☆
Found in Text Mining only
Antibody Deficiency due to Defect in CD19 Antibody deficiency Pubtator 26325596 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only