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CLU - ENSG00000120885

clusterin

Also known as: SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2

Location: chr8:27,454,434-27,472,548 reverse strand

Gene Type: protein coding

More information
NCBI Gene
1191
HUGO
HGNC:2095
Ensembl
ENSG00000120885
VEGA
OTTHUMG00000102114
OMIM
185430
UniProtKB
P10909

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 Meta 2 0.018 N/A 0 2.8e-04 6.0 PCs and sequencing center VEP HIGH
NG00065 Meta 2 0.018 N/A 0 2.8e-04 6.0 PCs and sequencing center LOF
NG00065 Meta 2 0.019 N/A 1 2.8e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 Meta 2 0.019 N/A 0 2.8e-04 6.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Meta 2 0.026 N/A 1 2.8e-04 6.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 Meta 2 0.026 N/A 0 2.8e-04 6.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 Caribbean Hispanic 1 0.038 N/A 0 3.8e-03 3.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 Caribbean Hispanic 1 0.038 N/A 0 3.8e-03 3.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 Caribbean Hispanic 1 0.042 N/A 0 3.8e-03 3.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 Caribbean Hispanic 1 0.042 N/A 0 3.8e-03 3.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Caribbean Hispanic 1 0.044 N/A 0 3.8e-03 3.0 PCs and sequencing center LOF
NG00065 Caribbean Hispanic 1 0.044 N/A 0 3.8e-03 3.0 PCs and sequencing center VEP HIGH
NG00065 Caribbean Hispanic 10 0.095 N/A 0 0.032 25.2 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 10 0.099 N/A 0 0.032 25.2 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Caribbean Hispanic 10 0.102 N/A 0 0.032 25.2 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 45 0.102 N/A 0 0.012 260.3 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 Meta 50 0.148 N/A 0 0.016 353.4 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 2 0.258 N/A 1 1.4e-04 3.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 European 2 0.259 N/A 0 1.4e-04 3.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 European 2 0.292 N/A 1 1.4e-04 3.0 PCs and sequencing center VEP HIGH
NG00065 European 2 0.293 N/A 0 1.4e-04 3.0 PCs and sequencing center LOF
NG00065 European 45 0.354 N/A 0 0.012 260.3 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 2 0.366 N/A 1 1.4e-04 3.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 2 0.369 N/A 0 1.4e-04 3.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 45 0.392 N/A 0 0.012 260.3 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 50 0.446 N/A 0 0.016 353.4 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 Meta 50 0.484 N/A 0 0.016 353.4 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the CLU gene.

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The CLU gene contains 1,491 variants records (corresponding to 1,404 unique genomic positions).

The following variants, contained within ±100kb of CLU, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of CLU that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

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Relative Position Variant ADSP? Allele p-Value Track Accession
in gene C 2.8e-25 IGAP 2013: Stages 1 and 2 NG00036
in gene A 4.1e-25 IGAP 2013: Stages 1 and 2 NG00036
in gene T 5.1e-25 IGAP 2013: Stages 1 and 2 NG00036
in gene A 9.2e-25 IGAP 2013: Stages 1 and 2 NG00036
in gene T 1.2e-24 IGAP 2013: Stages 1 and 2 NG00036
in gene T 2.1e-24 IGAP 2013: Stages 1 and 2 NG00036
in gene T 3.4e-24 IGAP 2013: Stages 1 and 2 NG00036
in gene T 1.2e-23 IGAP 2013: Stages 1 and 2 NG00036
in gene T 1.1e-21 IGAP 2013: Stages 1 and 2 NG00036
in gene A 2.5e-17 IGAP 2013: Stage 1 NG00036
in gene C 2.7e-17 IGAP 2013: Stage 1 NG00036
in gene T 2.8e-17 IGAP 2013: Stage 1 NG00036
in gene A 2.8e-17 IGAP 2013: Stage 1 NG00036
in gene T 3.8e-17 IGAP 2013: Stage 1 NG00036
in gene T 5.7e-17 IGAP 2013: Stage 1 NG00036
in gene C 9.6e-17 IGAP 2013: Stage 1 NG00036
in gene T 1.7e-16 IGAP 2013: Stage 1 NG00036
in gene T 1.7e-16 IGAP 2013: Stage 1 NG00036
in gene T 3.1e-16 IGAP 2013: Stage 1 NG00036
in gene T 1.7e-13 IGAP 2013: Stages 1 and 2 NG00036
in gene A 3.1e-13 IGAP 2013: Stages 1 and 2 NG00036
upstream T 1.4e-10 IGAP 2013: Stages 1 and 2 NG00036
upstream G 3.8e-10 IGAP 2013: Stages 1 and 2 NG00036
in gene T 4.7e-10 IGAP 2013: Stage 1 NG00036
in gene A 1.3e-9 IGAP 2013: Stage 1 NG00036
in gene C 1.3e-9 IGAP 2013: Stage 1 NG00036
upstream G 1.6e-9 IGAP 2013: Stages 1 and 2 NG00036
downstream G 8.7e-9 IGAP 2013: Stages 1 and 2 NG00036
downstream A 1.4e-8 IGAP 2013: Stages 1 and 2 NG00036
downstream C 1.4e-8 IGAP 2013: Stages 1 and 2 NG00036
upstream A 1.5e-8 IGAP 2013: Stages 1 and 2 NG00036
downstream C 2.0e-8 IGAP 2013: Stages 1 and 2 NG00036
downstream A 2.5e-8 IGAP 2013: Stages 1 and 2 NG00036
in gene G 3.8e-8 IGAP 2013: Stages 1 and 2 NG00036
downstream C 4.0e-8 IGAP 2013: Stages 1 and 2 NG00036

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of CLU that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of CLU, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of CLU that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of CLU that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the CLU gene (chr8:27454434-27472548)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0019730 antimicrobial humoral response TAS
BP GO:0006915 apoptotic process IEA
BP GO:0000902 cell morphogenesis IDA
BP GO:0032286 central nervous system myelin maintenance IMP
BP GO:0051131 chaperone-mediated protein complex assembly IDA
BP GO:0061077 chaperone-mediated protein folding IDA
BP GO:0006956 complement activation TAS
BP GO:0006958 complement activation, classical pathway IEA
BP GO:0002376 immune system process IEA
BP GO:0045087 innate immune response IEA
BP GO:0097193 intrinsic apoptotic signaling pathway IDA
BP GO:0006629 lipid metabolic process NAS
BP GO:0001774 microglial cell activation IDA
BP GO:0061518 microglial cell proliferation IDA
BP GO:1902430 negative regulation of beta-amyloid formation IDA
BP GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage IMP
BP GO:0032463 negative regulation of protein homooligomerization IMP
BP GO:0002576 platelet degranulation TAS
BP GO:0043065 positive regulation of apoptotic process IMP
BP GO:1902004 positive regulation of beta-amyloid formation IEA,ISS
BP GO:2001244 positive regulation of intrinsic apoptotic signaling pathway IMP
BP GO:1902998 positive regulation of neurofibrillary tangle assembly IMP
BP GO:1901216 positive regulation of neuron death IMP,IDA,IEA
BP GO:0051092 positive regulation of NF-kappaB transcription factor activity IMP
BP GO:0045429 positive regulation of nitric oxide biosynthetic process IDA
BP GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
BP GO:2000060 positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process IMP
BP GO:1902949 positive regulation of tau-protein kinase activity IMP
BP GO:0032760 positive regulation of tumor necrosis factor production IDA
BP GO:0017038 protein import IDA
BP GO:0050821 protein stabilization IDA
BP GO:1900221 regulation of beta-amyloid clearance IDA
BP GO:1902847 regulation of neuronal signal transduction IMP
BP GO:1901214 regulation of neuron death IMP,IDA
BP GO:0001836 release of cytochrome c from mitochondria IC
BP GO:0051788 response to misfolded protein IDA
BP GO:0009615 response to virus IEP
BP GO:0043691 reverse cholesterol transport TAS
CC GO:0097440 apical dendrite IDA
CC GO:0072562 blood microparticle IDA
CC GO:0009986 cell surface IDA
CC GO:0042583 chromaffin granule IEA
CC GO:0005737 cytoplasm IEA,IDA
CC GO:0031410 cytoplasmic vesicle IEA
CC GO:0005829 cytosol IEA
CC GO:0005783 endoplasmic reticulum IEA
CC GO:0070062 extracellular exosome IDA
CC GO:0031012 extracellular matrix IDA
CC GO:0005576 extracellular region IEA,TAS
CC GO:0005615 extracellular space IDA,IEA
CC GO:0005794 Golgi apparatus ISS
CC GO:0005622 intracellular IEA
CC GO:0043231 intracellular membrane-bounded organelle IEA
CC GO:0016020 membrane IEA
CC GO:0031966 mitochondrial membrane IEA
CC GO:0005739 mitochondrion IDA,IEA
CC GO:0097418 neurofibrillary tangle IDA
CC GO:0005634 nucleus IEA
CC GO:0048471 perinuclear region of cytoplasm IDA
CC GO:0031093 platelet alpha granule lumen TAS
CC GO:0043234 protein complex IDA
CC GO:0034366 spherical high-density lipoprotein particle IDA
MF GO:0016887 ATPase activity IDA
MF GO:0051087 chaperone binding ISS
MF GO:0051787 misfolded protein binding IDA,IPI
MF GO:0005515 protein binding IPI
MF GO:0031625 ubiquitin protein ligase binding IDA

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
Complement and coagulation cascades hsa04610