CR2 (complement C3d receptor 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1380
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C3d receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CR2
Synonyms (NCBI Gene) Gene synonyms aliases
C3DR, CD21, CR, CVID7, SLEB9
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120650 2336 ENSG00000117322
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Common variable immunodeficiency immunodeficiency, common variable, 7 rs1030733127, rs749636258, rs185689791, rs1572952530, rs1572950925, rs772481080, rs369363360, rs398122863, rs398122864, rs201017642, rs1558192723 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Systemic lupus erythematosus systemic lupus erythematosus N/A N/A GenCC
Show/Hide Text Mining Associations (78)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute On Chronic Liver Failure Associate 36505417
Agammaglobulinemia Associate 26325596
Alzheimer Disease Associate 26625115
Angioedemas Hereditary Associate 22288585
Antibody Deficiency due to Defect in CD19 Associate 26325596
Arthritis Rheumatoid Inhibit 11091285
Arthritis Rheumatoid Associate 19666505, 20231422, 2969703, 30649469, 31141193, 33459349
Asthma Associate 8222326
Autoimmune Diseases Associate 20231422, 27010233
Bronchiolitis Obliterans Syndrome Associate 25460358