AWAT2

acyl-CoA wax alcohol acyltransferase 2

This gene encodes an enzyme belonging to the diacylglycerol acyltransferase family. This enzyme produces wax esters by the esterification of long chain (or wax) alcohols with acyl-CoA-derived fatty acids. It functions in lipid metabolism in the skin, mostly in undifferentiated peripheral sebocytes. This enzyme may also have acyl-CoA:retinol acyltransferase activities, where it catalyzes the synthesis of diacylglycerols and retinyl esters.

provided by RefSeq

Biological Domains

Lipid Metabolism, Proteostasis

Pharos Class

Tbio

Also known as

ENSG00000147160 (Ensembl Release 115)

UNIPROTKB Q6E213

ARAT, DC4, DGAT2L4, MFAT, WS

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.
    No data

  • 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.
    No data

  • Nominated Target

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

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 AWAT2

The TRS for AWAT2, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for AWAT2 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 AWAT2.

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 AWAT2

Select a biological domain on the left to see the list of GO terms that link AWAT2 to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of AWAT2'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 AWAT2 is annotated with.