CD2 (CD2 Molecule) - Structure, Function, and Clinical Significance
A comprehensive overview of the CD2 gene, its protein product, expression patterns, associated diseases, and molecular characteristics.
Gene Information Card
| Symbol | CD2 |
|---|---|
| Full Name | CD2 molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.1 |
| NCBI Gene ID | 914 ncbi.nlm.nih.gov/gene/914 |
| Ensembl ID | ENSG00000116824 |
| UniProt ID | P06729 |
| OMIM ID | 186990 |
| HGNC ID | 1639 |
| Aliases | T11, SRBC, LFA-2, T-cell surface antigen T11/Leu-5 |
Description
The CD2 gene encodes a cell adhesion molecule and transmembrane glycoprotein expressed on the surface of T cells, natural killer (NK) cells, and thymocytes. CD2 functions as a ligand for LFA-3 (CD58) and CD48, mediating cell-cell adhesion and co-stimulatory signals for T-cell activation. It plays a critical role in immune synapse formation, T-cell receptor (TCR) signaling, and NK cell cytotoxicity. CD2 is also involved in T-cell development and differentiation. Aberrant CD2 expression or function has been implicated in autoimmune diseases, immunodeficiencies, and certain hematological malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autoimmune lymphoproliferative syndrome (ALPS) | CD2 mutations may impair T-cell apoptosis, leading to lymphoproliferation and autoimmunity. | Case reports and functional studies; limited evidence. |
| T-cell acute lymphoblastic leukemia (T-ALL) | CD2 is overexpressed on malignant T cells, contributing to adhesion and survival signals. | Expression studies; not a direct driver mutation. |
| Rheumatoid arthritis (RA) | CD2-mediated co-stimulation enhances autoreactive T-cell responses in synovial tissue. | Association studies; CD2 as a susceptibility locus. |
| Type 1 diabetes (T1D) | CD2 variants affect T-cell activation and immune regulation, increasing disease risk. | GWAS and functional studies. |
| NK cell deficiency | CD2 dysfunction impairs NK cell cytotoxicity, leading to recurrent infections. | Rare case reports; functional assays. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | High | High |
| Spleen | High | High |
| Blood | High | High |
| Bone marrow | Medium | Medium |
| Thymus | High | High |
| Lung | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | High | T-cell line; CD2 highly expressed. |
| Ramos (Burkitt lymphoma) | Low | B-cell line; CD2 not typically expressed. |
| K562 (chronic myelogenous leukemia) | Low | Myeloid line; CD2 absent. |
| NK-92 (NK cell line) | High | NK cell line; CD2 expressed. |
| HUT78 (T-cell lymphoma) | High | T-cell line; CD2 expressed. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of protein expression; functional impact unknown. |
| c.200C>T (p.Thr67Met) | Missense | Rare | May affect ligand binding; not well characterized. |
| c.450delC (frameshift) | Frameshift | Very rare | Predicted to cause premature truncation; likely loss-of-function. |
| c.600+1G>A (splice donor) | Splice site | Rare | May disrupt splicing; functional consequence not confirmed. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CD2 are rare and may impair T-cell adhesion and activation, potentially leading to immunodeficiency or autoimmunity. However, no definitive pathogenic loss-of-function variants have been established in large cohorts.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CD2. Overexpression in certain leukemias is likely due to transcriptional dysregulation rather than activating mutations.
Dominant Negative (DN)
No dominant-negative mutations have been described for CD2. The protein functions as a monomer; dominant-negative effects are unlikely.
View complete mutation data:
Gene Ontology (GO)
| • protein binding | • cell adhesion molecule binding |
| • receptor activity | • signaling receptor activity |
| • cell adhesion | • T cell costimulation |
| • cell surface receptor signaling pathway | • immune response |
| • cell-cell adhesion | • positive regulation of T cell activation |
Pathways
• T cell receptor signaling pathway
• Natural killer cell mediated cytotoxicity
• Cell adhesion molecules (CAMs)
• Costimulation by the CD28 family
• Immune synapse formation
Protein Summary
The CD2 protein is a type I transmembrane glycoprotein of approximately 55 kDa, composed of two extracellular immunoglobulin-like domains (V and C2), a transmembrane region, and a cytoplasmic tail. The extracellular domains mediate binding to CD58 (LFA-3) in humans and CD48 in rodents. The cytoplasmic tail contains proline-rich motifs that interact with intracellular signaling molecules such as Lck, Fyn, and CD2AP, linking adhesion to T-cell activation. CD2 is heavily glycosylated and expressed on the surface of T cells, NK cells, and thymocytes. Its primary functions include promoting cell-cell adhesion, enhancing TCR-mediated signaling, and facilitating NK cell cytotoxicity. CD2 also plays a role in T-cell development and memory T-cell responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD200 Knockout HEK293 Cell Line | EDJ-KQ2099 | Human | 4345 | Details Get a Quote |
| FANCD2 Knockout HEK293 Cell Line | EDJ-KQ2218 | Human | 2177 | Details Get a Quote |
| CD248 Knockout HEK293 Cell Line | EDJ-KQ2518 | Human | 57124 | Details Get a Quote |
| CD247 Knockout HEK293 Cell Line | EDJ-KQ2709 | Human | 919 | Details Get a Quote |
| CD2BP2 Knockout HEK293 Cell Line | EDJ-KQ3435 | Human | 10421 | Details Get a Quote |
| CD209 Knockout HEK293 Cell Line | EDJ-KQ3776 | Human | 30835 | Details Get a Quote |
| ABCD2 Knockout HEK293 Cell Line | EDJ-KQ4046 | Human | 225 | Details Get a Quote |
| CD2 Knockout HEK293 Cell Line | EDJ-KQ4209 | Human | 914 | Details Get a Quote |
| HACD2 Knockout HEK293 Cell Line | EDJ-KQ4909 | Human | 201562 | Details Get a Quote |
| WSCD2 Knockout HEK293 Cell Line | EDJ-KQ6687 | Human | 9671 | Details Get a Quote |
| C2CD2L Knockout HEK293 Cell Line | EDJ-KQ6782 | Human | 9854 | Details Get a Quote |
| CD226 Knockout HEK293 Cell Line | EDJ-KQ7125 | Human | 10666 | Details Get a Quote |
| FANCD2OS Knockout HEK293 Cell Line | EDJ-KQ7533 | Human | 115795 | Details Get a Quote |
| BICD2 Knockout HEK293 Cell Line | EDJ-KQ7953 | Human | 23299 | Details Get a Quote |
| CD2AP Knockout HEK293 Cell Line | EDJ-KQ8091 | Human | 23607 | Details Get a Quote |
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