Seroatlas · Human Serome Atlas

AWAT2

Acyl-CoA wax alcohol acyltransferase 2

Also known as: AWAT2_HUMAN, DGAT2L4, MFAT

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6E213
Gene: AWAT2
Ensembl: ENSG00000147160
Chromosome: X
Canonical length: 333 aa
Protein class: Enzymes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

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, May 2010]

Canonical amino-acid sequenceUniProt

333 residues, UniProt reviewed canonical sequence.

>Q6E213|AWAT2
     1  MLLPSKKDLK TALDVFAVFQ WSFSALLITT TVIAVNLYLV VFTPYWPVTV LILTWLAFDW
    61  KTPQRGGRRF TCVRHWRLWK HYSDYFPLKL LKTHDICPSR NYILVCHPHG LFAHGWFGHF
   121  ATEASGFSKI FPGITPYILT LGAFFWMPFL REYVMSTGAC SVSRSSIDFL LTHKGTGNMV
   181  IVVIGGLAEC RYSLPGSSTL VLKNRSGFVR MALQHGVPLI PAYAFGETDL YDQHIFTPGG
   241  FVNRFQKWFQ SMVHIYPCAF YGRGFTKNSW GLLPYSRPVT TIVGEPLPMP KIENPSQEIV
   301  AKYHTLYIDA LRKLFDQHKT KFGISETQEL EII

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AWAT2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 3
Mean surface accessibility (rSASA): 0.26
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

skin: 11 nTPM
breast: 1.5 nTPM
testis: 0.6 nTPM
salivary gland: 0.2 nTPM
epididymis: 0.1 nTPM
lung: 0.1 nTPM

Single-cell type

early primary spermatocytes: 9.1 nCPM
medullary thymic epithelial cells: 4.8 nCPM
epididymal principal cells: 1.2 nCPM
late spermatids: 0.9 nCPM
innate lymphoid cells: 0.6 nCPM
breast lactating cells: 0.4 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 0.1 nTPM
hypothalamus: 0.1 nTPM
midbrain: 0.1 nTPM
white matter: 0.1 nTPM
amygdala: 0 nTPM
basal ganglia: 0 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.71
gnomAD pLI: 0.19
gnomAD missense Z: 1.28
DepMap mean gene effect: 0.1
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

endoplasmic reticulum membrane

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AWAT2 as an antibody target. Whether an autoantibody or antibody against AWAT2 could matter depends on whether native AWAT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AWAT2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label AWAT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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