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Awat2 Gene Detail
Summary
  • Symbol
    Awat2
  • Name
    acyl-CoA wax alcohol acyltransferase 2
  • Synonyms
    9430062J17Rik, Dgat2l4
  • Feature Type
    protein coding gene
  • IDs
    MGI:3045345
    NCBI Gene: 245532
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:99445827-99486323 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 43.71 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    120 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3045345
 protein coding gene ChrX:99445827-99537885 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035939
 protein coding gene ChrX:96851933-96861979 (-)
A/J MGP_AJ_G0035924
 protein coding gene ChrX:96892107-96901828 (-)
AKR/J MGP_AKRJ_G0035840
 protein coding gene ChrX:99681305-99691056 (-)
BALB/cJ MGP_BALBcJ_G0035907
 protein coding gene ChrX:95649929-95659670 (-)
C3H/HeJ MGP_C3HHeJ_G0035616
 protein coding gene ChrX:97290159-97299902 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036436
 protein coding gene ChrX:99761970-99771719 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033266
 protein coding gene ChrX:94686544-94727491 (-)
CAST/EiJ MGP_CASTEiJ_G0034903
 protein coding gene ChrX:81595140-81605189 (-)
CBA/J MGP_CBAJ_G0035591
 protein coding gene ChrX:102846165-102859460 (-)
DBA/2J MGP_DBA2J_G0035745
 protein coding gene ChrX:96108847-96118598 (-)
FVB/NJ MGP_FVBNJ_G0035683
 protein coding gene ChrX:95510671-95520752 (-)
LP/J MGP_LPJ_G0035835
 protein coding gene ChrX:97822252-97832001 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035718
 protein coding gene ChrX:107369670-107379415 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036463
 protein coding gene ChrX:96558384-96601409 (-)
PWK/PhJ MGP_PWKPhJ_G0034602
 protein coding gene ChrX:79216583-79226343 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034430
 protein coding gene ChrX:82469562-82515081 (-)
WSB/EiJ MGP_WSBEiJ_G0035042
 protein coding gene ChrX:95287367-95297379 (-)



Homology
more
  • Human Ortholog
    AWAT2, acyl-CoA wax alcohol acyltransferase 2
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    AWAT2, acyl-CoA wax alcohol acyltransferase 2
  • Synonyms
    ARAT, DC4, DGAT2L4, MFAT, WS
  • Links
    NCBI Gene ID: 158835
    neXtProt AC: NX_Q6E213
    UniProt: Q6E213

  • Chr Location
    Xq13.1; chrX:70040542-70049938 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Awat2 mouse models

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    40 phenotypes from 3 alleles in 3 genetic backgrounds
    6 phenotypes from multigenic genotypes
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Null mice develop evaporative dry eye disease with progressive corneal damage, degeneration of Meibomian glands and inflammation. Wax esters are almost absent and cholesteryl esters are increased in meibum resulting in increased viscosity of meibum. Mice also show some skin abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    15
  • GO References
    8
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031220 Ensembl Gene Model | MGI Sequence Detail 40497 C57BL/6J ±  kb
    transcript ENSMUST00000033567 Ensembl | MGI Sequence Detail 1619 Not Applicable  
    polypeptide ENSMUSP00000033567 Ensembl | MGI Sequence Detail 333 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 5
      cDNA 5

      Microarray probesets 1
    References
    more
    • Summaries
      All 29
      Diseases 1
      Gene Ontology 8
      Phenotypes 8
    • Earliest
      J:92651 Cheng JB, et al., Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. J Biol Chem. 2004 Sep 3;279(36):37798-807
    • Latest
      J:344955 Widjaja-Adhi MAK, et al., Acyl-CoA:wax alcohol acyltransferase 2 modulates the cone visual cycle in mouse retina. FASEB J. 2022 Jul;36(7):e22390
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory