CD6 Gene
CD6 Molecule: Immune Receptor and Therapeutic Target
Gene Information Card
| Symbol | CD6 |
|---|---|
| Full Name | CD6 Molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.2 |
| NCBI Gene ID | 923 ncbi.nlm.nih.gov/gene/923 |
| Ensembl ID | ENSG00000013725 |
| UniProt ID | P30203 |
| OMIM ID | 186720 |
| HGNC ID | 1691 |
| Aliases | TP120, T-cell differentiation antigen CD6 |
Description
The CD6 gene encodes a type I transmembrane glycoprotein expressed primarily on T cells and a subset of B cells. CD6 functions as a co-stimulatory receptor that modulates T-cell activation, adhesion, and proliferation. It binds to its ligand CD166 (ALCAM) and is involved in immune synapse formation. CD6 has been implicated in autoimmune diseases and is a target for therapeutic intervention.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Multiple sclerosis | CD6 variants associated with altered T-cell activation and immune regulation | GWAS and functional studies (NCBI, OMIM) |
| Rheumatoid arthritis | CD6 polymorphisms linked to increased disease susceptibility | Association studies (NCBI, OMIM) |
| Systemic lupus erythematosus | CD6 expression changes contribute to immune dysregulation | Expression analysis (NCBI, OMIM) |
| T-cell acute lymphoblastic leukemia | CD6 overexpression on malignant T cells | Expression profiling (COSMIC, NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Thymus | 9.2 | Medium |
| Bone marrow | 4.1 | Low |
| Lung | 1.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression |
| Raji (B-cell lymphoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
| K562 (chronic myeloid leukemia) | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11230563 | SNP | 0.15 (global) | Intronic variant associated with multiple sclerosis risk |
| rs17824933 | SNP | 0.10 (global) | Associated with altered CD6 splicing and autoimmune risk |
| c.1123G>A | Missense | <0.01 | p.Gly375Arg; functional impact unknown |
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 confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• T-cell receptor signaling pathway (Reactome: R-HSA-202403)
• Cell adhesion molecules (CAMs) (KEGG: hsa04514)
• Immune system (Reactome: R-HSA-168256)
Protein Summary
CD6 is a 668-amino acid transmembrane protein with three extracellular scavenger receptor cysteine-rich (SRCR) domains, a transmembrane region, and a cytoplasmic tail containing multiple serine/threonine phosphorylation sites. It interacts with CD166 (ALCAM) to mediate T-cell adhesion and co-stimulation. CD6 is a key regulator of T-cell activation and is being explored as a therapeutic target in autoimmune diseases and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD69 Knockout HEK293 Cell Line | EDJ-KQ1923 | Human | 969 | Details Get a Quote |
| PDCD6IP Knockout HEK293 Cell Line | EDJ-KQ2146 | Human | 10015 | Details Get a Quote |
| CD68 Knockout HEK293 Cell Line | EDJ-KQ2203 | Human | 968 | Details Get a Quote |
| CD6 Knockout HEK293 Cell Line | EDJ-KQ2286 | Human | 923 | Details Get a Quote |
| CD63 Knockout HEK293 Cell Line | EDJ-KQ3145 | Human | 967 | Details Get a Quote |
| PDCD6 Knockout HEK293 Cell Line | EDJ-KQ6863 | Human | 10016 | Details Get a Quote |
| CD63 Knockout HeLa Cell Line | EDJ-KQ18208 | Human | 967 | Details Get a Quote |
| CD63 Knockout HCT 116 Cell Line | EDJ-KQ23152 | Human | 967 | Details Get a Quote |
| PDCD6IP Knockout HCT 116 Cell Line | EDJ-KQ22324 | Human | 10015 | Details Get a Quote |
| PDCD6IP Knockout HeLa Cell Line | EDJ-KQ22325 | Human | 10015 | Details Get a Quote |
| CD68 Knockout A-549 Cell Line | EDJ-KQ22449 | Human | 968 | Details Get a Quote |
| CD68 Knockout HCT 116 Cell Line | EDJ-KQ22450 | Human | 968 | Details Get a Quote |
| CD68 Knockout HeLa Cell Line | EDJ-KQ22451 | Human | 968 | Details Get a Quote |
| CD63 Knockout A-549 Cell Line | EDJ-KQ24536 | Human | 967 | Details Get a Quote |
| PDCD6 Knockout A-549 Cell Line | EDJ-KQ31441 | Human | 10016 | Details Get a Quote |
Displaying Records 1 To 15 Of 26 Records
