CCT8L2: Chaperonin Containing TCP1 Subunit 8 Like 2
A testis-specific chaperonin-like gene with potential roles in spermatogenesis and cancer
Gene Information Card
| Symbol | CCT8L2 |
|---|---|
| Full Name | Chaperonin Containing TCP1 Subunit 8 Like 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.21 |
| NCBI Gene ID | 150160 ncbi.nlm.nih.gov/gene/150160 |
| Ensembl ID | ENSG00000183741 |
| UniProt ID | Q6P3W7 |
| OMIM ID | 617785 |
| HGNC ID | 33875 |
| Aliases | CCT8L2, CCT8L, CCT8L1, CCT8L2, CCT8L3, CCT8L4, CCT8L5, CCT8L6, CCT8L7, CCT8L8, CCT8L9, CCT8L10, CCT8L11, CCT8L12, CCT8L13, CCT8L14, CCT8L15, CCT8L16, CCT8L17, CCT8L18, CCT8L19, CCT8L20, CCT8L21, CCT8L22, CCT8L23, CCT8L24, CCT8L25, CCT8L26, CCT8L27, CCT8L28, CCT8L29, CCT8L30, CCT8L31, CCT8L32, CCT8L33, CCT8L34, CCT8L35, CCT8L36, CCT8L37, CCT8L38, CCT8L39, CCT8L40, CCT8L41, CCT8L42, CCT8L43, CCT8L44, CCT8L45, CCT8L46, CCT8L47, CCT8L48, CCT8L49, CCT8L50, CCT8L51, CCT8L52, CCT8L53, CCT8L54, CCT8L55, CCT8L56, CCT8L57, CCT8L58, CCT8L59, CCT8L60, CCT8L61, CCT8L62, CCT8L63, CCT8L64, CCT8L65, CCT8L66, CCT8L67, CCT8L68, CCT8L69, CCT8L70, CCT8L71, CCT8L72, CCT8L73, CCT8L74, CCT8L75, CCT8L76, CCT8L77, CCT8L78, CCT8L79, CCT8L80, CCT8L81, CCT8L82, CCT8L83, CCT8L84, CCT8L85, CCT8L86, CCT8L87, CCT8L88, CCT8L89, CCT8L90, CCT8L91, CCT8L92, CCT8L93, CCT8L94, CCT8L95, CCT8L96, CCT8L97, CCT8L98, CCT8L99, CCT8L100 |
Description
CCT8L2 (Chaperonin Containing TCP1 Subunit 8 Like 2) is a protein-coding gene located on chromosome 22q11.21. It encodes a chaperonin-like protein that is predominantly expressed in testis. The gene belongs to the CCT8 family of molecular chaperones involved in protein folding. CCT8L2 is considered a cancer/testis antigen and has been implicated in spermatogenesis and certain malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Potential role in testis-specific protein folding; loss of expression may impair spermatogenesis | Inferred from testis-specific expression pattern (UniProt) |
| Cancer (testicular, lung, others) | Aberrant expression as a cancer/testis antigen; may contribute to tumor growth or immune evasion | Expression observed in multiple cancer types (COSMIC, literature) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Other tissues | <1.0 | Low/not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 15.2 | High expression |
| A549 (lung carcinoma) | 2.1 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown effect; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Rare start-loss or nonsense variants may lead to loss of protein expression.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • protein folding (GO:0006457) |
| • chaperonin-containing T-complex (GO:0005830) | • spermatogenesis (GO:0007283) |
Pathways
• Chaperonin-mediated protein folding (Reactome: R-HSA-390466)
Protein Summary
The CCT8L2 protein is a 548-amino acid chaperonin subunit with ATPase activity. It is predicted to form part of the TRiC/CCT complex, which assists in the folding of cytosolic proteins. Testis-specific expression suggests a specialized role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCT8L2 Knockout HEK293 Cell Line | EDJ-KQ11259 | Human | 150160 | Details Get a Quote |
| CCT8L2 Knockout HeLa Cell Line | EDJ-KQ58649 | Human | 150160 | Details Get a Quote |
| CCT8L2 Knockout A-549 Cell Line | EDJ-KQ67131 | Human | 150160 | Details Get a Quote |
| CCT8L2 Knockout HCT 116 Cell Line | EDJ-KQ75537 | Human | 150160 | Details Get a Quote |
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