CDR2L
Cerebellar Degeneration-Related Protein 2-Like
Gene Information Card
| Symbol | CDR2L |
|---|---|
| Full Name | Cerebellar Degeneration-Related Protein 2-Like |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 30850 ncbi.nlm.nih.gov/gene/30850 |
| Ensembl ID | ENSG00000108848 |
| UniProt ID | Q86X02 |
| OMIM ID | 609722 |
| HGNC ID | 1800 |
| Aliases | C17orf36, FLJ10156, MGC138499 |
Description
CDR2L encodes a protein similar to cerebellar degeneration-related protein 2 (CDR2). It is a cytoplasmic protein expressed in various tissues and is recognized as a target of autoantibodies (anti-Yo) in paraneoplastic cerebellar degeneration associated with gynecological and breast cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Paraneoplastic cerebellar degeneration | Autoantibodies (anti-Yo) target CDR2L in Purkinje cells, leading to neuronal degeneration | ClinVar, OMIM |
| Ovarian cancer | CDR2L expression in tumor cells triggers immune response and autoantibody production | NCBI, OMIM |
| Breast cancer | Similar mechanism as ovarian cancer; CDR2L autoantibodies detected | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebellum | 12.5 | Medium |
| Ovary | 8.3 | Low |
| Breast | 6.1 | Low |
| Testis | 15.2 | Medium |
| Brain cortex | 10.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SK-OV-3 (ovarian cancer) | 14.8 | High expression |
| MCF7 (breast cancer) | 9.2 | Moderate expression |
| HEK293 | 7.5 | Low expression |
| SH-SY5Y (neuroblastoma) | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; rare variant |
| c.1022A>G (p.Glu341Gly) | Missense | <0.01% | Unknown; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • Cytoplasm | • Protein binding |
| • Cellular response to unfolded protein |
Pathways
• Paraneoplastic neurodegeneration
• Autoimmune response
Protein Summary
CDR2L is a 55 kDa cytoplasmic protein with leucine-rich repeats. It is involved in cellular stress responses and is a major autoantigen in paraneoplastic cerebellar degeneration. The protein is highly conserved and expressed in neurons and certain cancer cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDR2L Knockout HEK293 Cell Line | EDJ-KQ12850 | Human | 30850 | Details Get a Quote |
| CDR2L Knockout A-549 Cell Line | EDJ-KQ42004 | Human | 30850 | Details Get a Quote |
| CDR2L Knockout HCT 116 Cell Line | EDJ-KQ42005 | Human | 30850 | Details Get a Quote |
| CDR2L Knockout HeLa Cell Line | EDJ-KQ42006 | Human | 30850 | Details Get a Quote |
| CDR2L Knockout OVCAR-3 Cell Line | EDJ-KZ147 | Human | 30850 | Details Get a Quote |
