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.

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 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
Displaying Records 1 To 12 Of 12 Records
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