CD2BP2 (CD2 Cytoplasmic Tail Binding Protein 2)
A gene encoding a proline-rich adaptor protein involved in pre-mRNA splicing and T-cell signaling.
Gene Information Card
| Symbol | CD2BP2 |
|---|---|
| Full Name | CD2 Cytoplasmic Tail Binding Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 10421 ncbi.nlm.nih.gov/gene/10421 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | O95400 |
| OMIM ID | 604470 |
| HGNC ID | 1657 |
| Aliases | LIN1, FWP010, Snu40, U5-52K |
Description
CD2BP2 encodes a proline-rich protein that binds to the cytoplasmic tail of CD2, a T-cell surface antigen. The protein is a component of the U5 small nuclear ribonucleoprotein (snRNP) complex and is involved in pre-mRNA splicing. It also plays a role in T-cell activation and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | No curated disease entries in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.5 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney cell line |
| Jurkat | 11.5 | T-cell leukemia cell line |
| HeLa | 9.2 | Cervical carcinoma cell line |
| K562 | 8.7 | Myelogenous leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% (gnomAD) | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% (gnomAD) | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA processing |
| • spliceosomal complex assembly | • protein binding |
| • U5 snRNP binding |
Pathways
• mRNA Splicing - Major Pathway
• Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
CD2BP2 is a 52 kDa protein that contains a GYF domain, which mediates binding to proline-rich sequences. It is a core component of the U5 snRNP, essential for spliceosome assembly and pre-mRNA splicing. The protein also interacts with CD2, contributing to T-cell adhesion and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD2BP2 Knockout HEK293 Cell Line | EDJ-KQ3435 | Human | 10421 | Details Get a Quote |
| CD2BP2 Knockout A-549 Cell Line | EDJ-KQ25161 | Human | 10421 | Details Get a Quote |
| CD2BP2 Knockout HCT 116 Cell Line | EDJ-KQ25162 | Human | 10421 | Details Get a Quote |
| CD2BP2 Knockout HeLa Cell Line | EDJ-KQ23780 | Human | 10421 | Details Get a Quote |
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