GediPNet logo

CR2 (complement C3d receptor 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1380
Gene nameGene Name - the full gene name approved by the HGNC.
Complement C3d receptor 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CR2
SynonymsGene synonyms aliases
C3DR, CD21, CR, CVID7, SLEB9
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.2
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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 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.
GO ID Ontology Definition Evidence Reference
GO:0001618 Function Virus receptor activity IEA
GO:0001848 Function Complement binding IDA 11034390
GO:0002430 Process Complement receptor mediated signaling pathway IEA
GO:0003677 Function DNA binding IDA 22885687
GO:0004875 Function Complement receptor activity NAS 2827171
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MGAAGLLGVFLALVAPGVLGISCGSPPPILNGRISYYSTPIAVGTVIRYSCSGTFRLIGE
KSLLCITKDKVDGTWDKPAPKC
EYFNKYSSCPEPIVPGGYKIRGSTPYRHGDSVTFACKT
NFSMNGNKSVWCQANNMWGPTRLPTC
VSVFPLECPALPMIHNGHHTSENVGSIAPGLSVT
YSCESGYLLVGEKIINCLSSGKWSAVPPTC
EEARCKSLGRFPNGKVKEPPILRVGVTANF
FCDEGYRLQGPPSSRCVIAGQGVAWTKMPVC
EEIFCPSPPPILNGRHIGNSLANVSYGSI
VTYTCDPDPEEGVNFILIGESTLRCTVDSQKTGTWSGPAPRC
ELSTSAVQCPHPQILRGR
MVSGQKDRYTYNDTVIFACMFGFTLKGSKQIRCNAQGTWEPSAPVC
EKECQAPPNILNGQ
KEDRHMVRFDPGTSIKYSCNPGYVLVGEESIQCTSEGVWTPPVPQC
KVAACEATGRQLLT
KPQHQFVRPDVNSSCGEGYKLSGSVYQECQGTIPWFMEIRLCKEITCPPPPVIYNGAHTG
SSLEDFPYGTTVTYTCNPGPERGVEFSLIGESTIRCTSNDQERGTWSGPAPLC
KLSLLAV
QCSHVHIANGYKISGKEAPYFYNDTVTFKCYSGFTLKGSSQIRCKADNTWDPEIPVCEKE
TCQHVRQSLQELPAGSRVELVNTSCQDGYQLTGHAYQMCQDAENGIWFKKIPLCKVIHCH
PPPVIVNGKHTGMMAENFLYGNEVSYECDQGFYLLGEKKLQCRSDSKGHGSWSGPSPQC
L
RSPPVTRCPNPEVKHGYKLNKTHSAYSHNDIVYVDCNPGFIMNGSRVIRCHTDNTWVPGV
PTC
IKKAFIGCPPPPKTPNGNHTGGNIARFSPGMSILYSCDQGYLLVGEALLLCTHEGTW
SQPAPHC
KEVNCSSPADMDGIQKGLEPRKMYQYGAVVTLECEDGYMLEGSPQSQCQSDHQ
WNPPLAVC
RSRSLAPVLCGIAAGLILLTFLIVITLYVISKHRARNYYTDTSQKEAFHLEA
REVYSVDPYNPAS
Sequence length 1033
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Complement and coagulation cascades
Hematopoietic cell lineage
B cell receptor signaling pathway
Epstein-Barr virus infection
  Regulation of Complement cascade
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Common variable immunodeficiency Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 7 rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365 22035880, 26325596
Gastrointestinal stromal tumor Gastrointestinal Stromal Tumors rs587776653, rs74315368, rs74315369, rs587776793, rs587776794, rs587776795, rs606231209, rs121908589, rs121913685, rs121913680, rs794726675, rs587776804, rs121913517, rs121913234, rs121913512, rs267607032, rs387906780, rs201286421, rs587778661, rs587781270, rs587782243, rs74315370, rs587782703, rs786203457, rs764575966, rs786203251, rs587782604, rs200245469, rs397516836, rs786202732, rs786201161, rs786201063, rs751000085, rs869025568, rs876660642, rs876658713, rs151170408, rs878854632, rs752360961, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs778582853, rs1060503757, rs1060502521, rs1060502543, rs898854295, rs981049067, rs916516745, rs1553887262, rs1057520032, rs1553887960, rs775143272, rs1560395607, rs1560418178, rs751904543, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1734957331
Unknown
Disease name Disease term dbSNP ID References
Brachycephaly Brachycephaly
Bronchitis Recurrent bronchitis
Conjunctivitis Conjunctivitis
Hypogammaglobulinemia Hypogammaglobulinemia 26325596

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412