CLU Gene (Clusterin)
A multifunctional glycoprotein involved in protein folding, apoptosis, and complement regulation, with roles in Alzheimer's disease, cancer, and cardiovascular disorders.
Gene Information Card
| Symbol | CLU |
|---|---|
| Full Name | Clusterin |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.1 |
| NCBI Gene ID | 1191 ncbi.nlm.nih.gov/gene/1191 |
| Ensembl ID | ENSG00000120885 |
| UniProt ID | P10909 |
| OMIM ID | 185430 |
| HGNC ID | 2095 |
| Aliases | AAG4, APOJ, CLI, CLU1, CLU2, KUB1, SGP-2, SP-40, TRPM2, gp80 |
Description
The CLU gene encodes clusterin, a secreted multifunctional glycoprotein involved in protein folding, chaperone activity, apoptosis regulation, complement inhibition, and lipid transport. It is expressed in many tissues and is implicated in Alzheimer's disease, cancer progression, myocardial infarction, and age-related macular degeneration. Alternative splicing produces nuclear and cytoplasmic isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | CLU modulates amyloid-beta aggregation and clearance; risk variants (e.g., rs11136000) increase susceptibility | Genome-wide association studies (GWAS) and functional studies (NCBI, OMIM) |
| Age-related macular degeneration | CLU protects retinal pigment epithelium from oxidative stress; altered expression linked to drusen formation | OMIM #185430, ClinVar |
| Myocardial infarction | CLU is upregulated in ischemic heart tissue; acts as a cardioprotective chaperone | NCBI Gene, PubMed |
| Prostate cancer | CLU overexpression promotes therapy resistance; nuclear CLU inhibits apoptosis | COSMIC, UniProt |
| Breast cancer | CLU expression correlates with poor prognosis; secreted CLU supports tumor cell survival | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Brain (cortex) | 32.1 | Medium |
| Heart | 28.5 | Medium |
| Kidney | 25.0 | Medium |
| Testis | 22.3 | Medium |
| Lung | 18.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 52.4 | Hepatocellular carcinoma cell line |
| SH-SY5Y (neuroblastoma) | 35.1 | Neuronal model |
| MCF7 (breast) | 22.8 | Breast cancer cell line |
| PC3 (prostate) | 19.5 | Prostate cancer cell line |
| A549 (lung) | 15.2 | Lung carcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11136000 (intronic) | SNP | ~0.38 (C allele) | Increased risk for Alzheimer's disease |
| rs9331888 (intronic) | SNP | ~0.22 | Associated with CLU expression levels |
| c.1027C>T (p.Arg343Cys) | Missense | Rare | Potential impact on protein stability (ClinVar) |
| c.1249G>A (p.Gly417Arg) | Missense | Rare | Uncertain significance (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CLU are rare; reduced secreted clusterin may impair chaperone activity and increase amyloid-beta aggregation.
Gain of Function (GOF)
Gain-of-function is not well documented; overexpression of nuclear CLU in cancer cells may confer anti-apoptotic properties.
Dominant Negative (DN)
No dominant-negative mutations have been reported for CLU.
View complete mutation data:
Gene Ontology (GO)
Pathways
• Complement and coagulation cascades (KEGG hsa04610)
• Alzheimer disease (KEGG hsa05010)
• Apoptosis (KEGG hsa04210)
• Protein processing in endoplasmic reticulum (KEGG hsa04141)
Protein Summary
Clusterin is a 449-amino-acid glycoprotein (UniProt P10909) synthesized as a precursor that is cleaved into alpha and beta chains, which are linked by disulfide bonds. It functions as an extracellular chaperone, inhibiting stress-induced protein aggregation, and modulates complement-mediated cell lysis. Intracellular isoforms (nuclear CLU) can promote cell survival or death depending on context. The protein is heavily glycosylated and secreted into plasma, cerebrospinal fluid, and seminal fluid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CLU Knockout HEK293 Cell Line | EDJ-KQ2717 | Human | 1191 | Details Get a Quote |
| CLUL1 Knockout HEK293 Cell Line | EDJ-KQ7939 | Human | 27098 | Details Get a Quote |
| CLUH Knockout HEK293 Cell Line | EDJ-KQ7941 | Human | 23277 | Details Get a Quote |
| CLU Knockout A-549 Cell Line | EDJ-KQ23567 | Human | 1191 | Details Get a Quote |
| CLU Knockout HCT 116 Cell Line | EDJ-KQ23568 | Human | 1191 | Details Get a Quote |
| CLU Knockout HeLa Cell Line | EDJ-KQ23569 | Human | 1191 | Details Get a Quote |
| CLUH Knockout A-549 Cell Line | EDJ-KQ33603 | Human | 23277 | Details Get a Quote |
| CLUH Knockout HCT 116 Cell Line | EDJ-KQ33604 | Human | 23277 | Details Get a Quote |
| CLUH Knockout HeLa Cell Line | EDJ-KQ33605 | Human | 23277 | Details Get a Quote |
| CLUL1 Knockout HeLa Cell Line | EDJ-KQ55999 | Human | 27098 | Details Get a Quote |
| CLUL1 Knockout A-549 Cell Line | EDJ-KQ64487 | Human | 27098 | Details Get a Quote |
| CLUL1 Knockout HCT 116 Cell Line | EDJ-KQ72944 | Human | 27098 | Details Get a Quote |
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