VCP

valosin containing protein

Nominated Target, Selected for Target Enabling Resource Development

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients.

provided by RefSeq

Biological Domains

Apoptosis, Autophagy, Cell Cycle, DNA Repair, Endolysosome, Immune Response, Lipid Metabolism, Mitochondrial Metabolism, Proteostasis, Synapse

Pharos Class

Tchem

Also known as

ENSG00000165280 (Ensembl Release 115)

UNIPROTKB P55072

CDC48, FTDALS6, TERA, p97

Summary of Evidence

This tab shows an overview of how the selected gene is associated with AD.

  • Genetic Association with LOAD

    Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification Committee
    False

  • Brain eQTL

    Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium study
    False

  • RNA Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Protein Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Nominated Target

    Indicates whether or not this gene has been submitted as a nominated target to Agora.
    True

AD Risk Scores

About AD Risk Scores

The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.

AD Risk Scores for VCP

The TRS for VCP, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for VCP are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for VCP.

Biological Domain Classification

About Biological Domains

A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.

Biological Domains for VCP

Select a biological domain on the left to see the list of GO terms that link VCP to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of VCP's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms VCP is annotated with.