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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]
CR2 (Complement C3d Receptor 2) is a Protein Coding gene. Diseases associated with CR2 include Immunodeficiency, Common Variable, 7 and Systemic Lupus Erythematosus 9. Among its related pathways are Immune response Lectin induced complement pathway and Hematopoietic cell lineage. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transmembrane signaling receptor activity. An important paralog of this gene is CSMD3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001618 | virus receptor activity | IEA | -- |
GO:0001848 | complement binding | IDA | 11034390 |
GO:0003677 | DNA binding | IDA | 22885687 |
GO:0004875 | complement receptor activity | NAS | 2827171 |
GO:0004888 | transmembrane signaling receptor activity | NAS | 2827171 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | NAS,TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 2827171 |
GO:0043235 | receptor complex | IDA | 23382219 |
GO:0070062 | extracellular exosome | HDA | 20458337 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Immune response Lectin induced complement pathway |
Immune response Alternative complement pathway
.56
Immune response Lectin induced complement pathway
.56
|
Immune response Classical complement pathway
.55
|
2 | B cell receptor signaling pathway (KEGG) | ||
3 | Complement and coagulation cascades | ||
4 | 4-1BB Pathway |
NF-KappaB Activation by EBV
.42
|
NF-kappaB Activation by Viruses
.42
|
5 | Measles |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IEA | -- |
GO:0002430 | complement receptor mediated signaling pathway | IEA | -- |
GO:0006955 | immune response | NAS | 2827171 |
GO:0006958 | complement activation, classical pathway | IEA | -- |
GO:0016032 | viral process | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · | 13c | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: |
ExUns: | 19 | ^ | 20 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: | |||
SP6: | |||
SP7: | |||
SP8: | |||
SP9: | |||
SP10: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CR2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CR2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | CR2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cr2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cr2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CR2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | selp 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG10186 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636387 | Uncertain Significance: not provided | 207,469,691(+) | C/T | INTRON_VARIANT | |
636451 | Uncertain Significance: not provided | 207,470,917(+) | G/A | SPLICE_DONOR_VARIANT | |
636497 | Uncertain Significance: not provided | 207,473,713(+) | G/A | MISSENSE_VARIANT,INTRON_VARIANT | |
638326 | Pathogenic: Common variable immunodeficiency 7 | 207,468,543(+) | T/A | NONSENSE | |
638835 | Uncertain Significance: Common variable immunodeficiency 7 | 207,485,486(+) | C/T | NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758993 | CNV | gain+loss | 17122850 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency, common variable, 7 |
|
|
systemic lupus erythematosus 9 |
|
|
common variable immunodeficiency |
|
|
immunodeficiency, common variable, 2 |
|
|
systemic lupus erythematosus |
|