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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CDR2
cerebellar degeneration related protein 2
Chromosome 16 · 16p12.2
NCBI Gene: 1039Ensembl: ENSG00000140743.9HGNC: HGNC:1799UniProt: Q01850
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmneurodegenerative diseaseAbruptio PlacentaeneoplasmParkinson disease
✦AI Summary

CDR2 (cerebellar degeneration related protein 2) is an onconeural antigen that functions as a dynein adaptor protein involved in endoplasmic reticulum (ER) organization 1. The protein is recruited by the integral ER membrane protein kinectin (KTN1) and, along with its paralog CDR2L, regulates ER sheet organization through dynein-mediated transport 1. CDR2 contains a dynein-binding CC1 box motif that is essential for its function in promoting centrosome-proximal clustering of ER sheets and preventing KTN1-dependent ER sheet stacking 1. In human brain tissue, CDR2 shows distinct cellular distribution compared to CDR2L, localizing primarily to vascular smooth muscle cells and cells lining the ventricular system, while CDR2L is found mainly in Purkinje cells and brainstem neurons 2. CDR2 and CDR2L serve as major targets of anti-Yo autoantibodies in paraneoplastic cerebellar degeneration, a cancer-related autoimmune disorder affecting cerebellar Purkinje cells 3. These onconeural antigens are expressed in both tumor cells and neurons, where they associate with ribosomes and play roles in transcription regulation and calcium homeostasis 3. CDR2 expression is significantly downregulated in Kawasaki disease, suggesting potential involvement in inflammatory vascular conditions 4.

Sources cited
1
CDR2 functions as a dynein adaptor recruited by kinectin to regulate ER sheet organization
PMID: 40637585
2
CDR2 localizes to vascular smooth muscle cells and ventricular lining cells, distinct from CDR2L distribution
PMID: 34823119
3
CDR2 and CDR2L are targets of anti-Yo antibodies in paraneoplastic cerebellar degeneration and play roles in transcription and calcium homeostasis
PMID: 39795928
4
CDR2 expression is significantly downregulated in Kawasaki disease
PMID: 35204331
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.35Weak
Abruptio PlacentaeOpen Targets
0.20Weak
neoplasmOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.06Suggestive
paraneoplastic neurologic syndromeOpen Targets
0.03Suggestive
gastric ulcerOpen Targets
0.02Suggestive
hemorrhageOpen Targets
0.02Suggestive
joint diseaseOpen Targets
0.02Suggestive
Subdural hemorrhageOpen Targets
0.02Suggestive
cerebellar degenerationOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
ovarian cancerOpen Targets
0.02Suggestive
Abnormal sperm morphologyOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
neuroendocrine neoplasmOpen Targets
0.02Suggestive
cerebellar ataxiaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
renal cell carcinomaOpen Targets
0.01Suggestive
gastric adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MYCProtein interaction87%BRSK1Protein interaction78%ITIH4Protein interaction77%WEE1Protein interaction72%LOC102723407Protein interaction72%KTN1Protein interaction70%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
71%
Liver
65%
Ovary
59%
Brain
44%
Heart
41%
Gene Interaction Network
Click a node to explore
CDR2MYCBRSK1ITIH4WEE1LOC102723407KTN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q01850
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.88]
RankingsWhere CDR2 stands among ~20K protein-coding genes
  • #8,181of 20,598
    Most Researched55
  • #7,807of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedCDR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Developing drug-like single-domain antibodies (VHH) from in vitro libraries.
PMID: 40562779
MAbs · 2025
1.00
2
Human Transcriptome Array Analysis Identifies CDR2 as a Novel Suppressed Gene for Kawasaki Disease.
PMID: 35204331
Diagnostics (Basel) · 2022
0.90
3
Human TCR as antigen: homologies and potentially cross-reactive HLA-DR2-restricted epitopes within the AV and BV CDR2 loops.
PMID: 10770270
Crit Rev Immunol · 2000
0.80
4
Expression of cerebellar degeneration-related proteins CDR2 and CDR2L in human and rat brain tissue.
PMID: 34823119
J Neuroimmunol · 2022
0.70
5
Roles of CDR2 and CDR2L in Anti-Yo Paraneoplastic Cerebellar Degeneration: A Literature Review.
PMID: 39795928
Int J Mol Sci · 2024
0.60