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This gene encodes a bi-functional protein. In the cytoplasm, the encoded protein binds the cytoplasmic tail of human surface antigen CD2 via its C-terminal GYF domain, and regulate CD2-triggered T lymphocyte activation. In the nucleus, this protein is a component of the U5 small nuclear ribonucleoprotein complex and is involved in RNA splicing. A pseudogene has been identified on chromosome 7. Alternative splicing results in multiple transcript variants but their biological validity has not been determined. [provided by RefSeq, Nov 2008]
CD2BP2 (CD2 Cytoplasmic Tail Binding Protein 2) is a Protein Coding gene. Diseases associated with CD2BP2 include Lobular Neoplasia. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include ribonucleoprotein complex binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 9843987 |
GO:0043021 | ribonucleoprotein complex binding | IDA | 15840814 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IEA,IDA | 15840814 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005682 | U5 snRNP | IDA | 15840814 |
GO:0005737 | cytoplasm | TAS | 9843987 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.41
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000244 | spliceosomal tri-snRNP complex assembly | NAS | 15840814 |
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | IEA | -- |
GO:0010923 | negative regulation of phosphatase activity | IDA | 19389623 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CD2BP2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CD2BP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CD2BP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cd2bp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cd2bp2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CD2BP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CD2BP2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CD2BP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clip4 30 |
|
||
MGC76157 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | cd2bp2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cd2bp2 30 31 |
|
OneToOne | |
zgc56165 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011494 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | holn1 30 31 |
|
OneToOne | |
CG5198 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | teg-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4310 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs13330462 | - | p.Gly231Asp | |||
rs34391305 | - | p.Thr262Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2758642 | CNV | gain | 17122850 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lobular neoplasia |
|
|