InnateDB Protein
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IDBP-106351.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CR2
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Protein Name
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complement component (3d/Epstein Barr virus) receptor 2
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Synonyms
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C3DR; CD21; CR; CVID7; SLEB9;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000356024
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InnateDB Gene
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IDBG-106349 (CR2)
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Protein Structure
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Function |
Receptor for complement C3Dd, for the Epstein-Barr virus on human B-cells and T-cells and for HNRPU. Participates in B lymphocytes activation. {ECO:0000269PubMed:7753047}.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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Disease Associations |
Systemic lupus erythematosus 9 (SLEB9) [MIM:610927]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269PubMed:17360460}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Immunodeficiency, common variable, 7 (CVID7) [MIM:614699]: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. {ECO:0000269PubMed:22035880}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Mature B-lymphocytes, T-lymphocytes, pharyngeal epithelial cells, astrocytes and follicular dendritic cells of the spleen.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
12
[view]
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Protein-DNA |
4
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
12 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000436
Sushi/SCR/CCP
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PFAM |
PF00084
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PRINTS |
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PIRSF |
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SMART |
SM00032
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TIGRFAMs |
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Modification |
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SwissProt |
P20023
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PhosphoSite |
PhosphoSite-P20023
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1380
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UniGene |
Hs.609955
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RefSeq |
NP_001006659
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HUGO |
HGNC:2336
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OMIM |
120650
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CCDS |
CCDS31007
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HPRD |
00399
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IMGT |
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EMBL |
AK223627
AK301496
AL391597
AL691452
BC090937
BC136394
EF064746
J03565
M24007
M24008
M24009
M24010
M24011
M26004
M26009
M26010
M26011
M26012
M26013
M26014
M26015
M26016
S62696
Y00649
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GenPept |
AAA35784
AAA35786
AAB04638
AAB27186
AAH90937
AAI36395
ABK41929
BAD97347
BAG63007
CAA68674
CAH72949
CAH72950
CAI16729
CAI16730
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