AWAT2 (acyl-CoA wax alcohol acyltransferase 2)

2014-11-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
ARAT,DC4,DGAT2L4,MFAT,WS

Other Information

Locus ID:

NCBI: 158835
MIM: 300925
HGNC: 23251
Ensembl: ENSG00000147160

Variants:

dbSNP: 158835
ClinVar: 158835
TCGA: ENSG00000147160
COSMIC: AWAT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147160ENST00000276101Q6E213
ENSG00000147160ENST00000440401H0YAL0

Expression (GTEx)

0
1
2
3
4

Pathways

PathwaySourceExternal ID
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Acyl chain remodeling of DAG and TAGREACTOMER-HSA-1482883
Wax biosynthesisREACTOMER-HSA-8848584

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
156710382005Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily.31
161060502005A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters.25

Citation

Dessen P

AWAT2 (acyl-CoA wax alcohol acyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60671/awat2