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Aliases for AWAT2 Gene

Aliases for AWAT2 Gene

  • Acyl-CoA Wax Alcohol Acyltransferase 2 2 3 5
  • Multifunctional O-Acyltransferase 2 3 4
  • Diacylglycerol O-Acyltransferase 2-Like Protein 4 3 4
  • Diacylglycerol O-Acyltransferase Candidate 4 3 4
  • Long-Chain-Alcohol O-Fatty-Acyltransferase 2 3 4
  • Acyl-CoA Retinol O-Fatty-Acyltransferase 3 4
  • Retinol O-Fatty-Acyltransferase 3 4
  • DGAT2L4 3 4
  • ARAT 3 4
  • MFAT 3 4
  • DC4 3 4
  • WS 3 4
  • Diacylglycerol O-Acyltransferase 2-Like 4 2
  • Wax Synthase 4
  • EC 2.3.1.75 4
  • EC 2.3.1.76 4
  • HDC4 4
  • HWS 4

External Ids for AWAT2 Gene

Previous HGNC Symbols for AWAT2 Gene

  • DGAT2L4

Previous GeneCards Identifiers for AWAT2 Gene

  • GC0XM069178
  • GC0XM063081

Summaries for AWAT2 Gene

Entrez Gene Summary for AWAT2 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]

GeneCards Summary for AWAT2 Gene

AWAT2 (Acyl-CoA Wax Alcohol Acyltransferase 2) is a Protein Coding gene. Among its related pathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and long-chain-alcohol O-fatty-acyltransferase activity. An important paralog of this gene is DGAT2L6.

UniProtKB/Swiss-Prot for AWAT2 Gene

  • Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo.

Additional gene information for AWAT2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AWAT2 Gene

Genomics for AWAT2 Gene

Regulatory Elements for AWAT2 Gene

Enhancers for AWAT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH070029 0.6 ENCODE 0.4 +19.8 19778 0 SCRT1 CTCF ZNF654 TRIM22 REST RAD21 SCRT2 ZNF143 SMC3 ZNF350 MIR676 AWAT2
GH0XH070022 0.5 ENCODE 0.3 +26.4 26353 2 NFIC JUND HNF4A RARA MIR676 AWAT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AWAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AWAT2 Gene

Chromosome:
X
Start:
70,040,542 bp from pter
End:
70,049,965 bp from pter
Size:
9,424 bases
Orientation:
Minus strand

Genomic View for AWAT2 Gene

Genes around AWAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AWAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AWAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AWAT2 Gene

Proteins for AWAT2 Gene

  • Protein details for AWAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6E213-AWAT2_HUMAN
    Recommended name:
    Acyl-CoA wax alcohol acyltransferase 2
    Protein Accession:
    Q6E213
    Secondary Accessions:
    • Q6IEE3
    • Q6P437

    Protein attributes for AWAT2 Gene

    Size:
    333 amino acids
    Molecular mass:
    38094 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AWAT2 Gene

Post-translational modifications for AWAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AWAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AWAT2 Gene

Domains & Families for AWAT2 Gene

Gene Families for AWAT2 Gene

Protein Domains for AWAT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AWAT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6E213

UniProtKB/Swiss-Prot:

AWAT2_HUMAN :
  • Belongs to the diacylglycerol acyltransferase family.
Family:
  • Belongs to the diacylglycerol acyltransferase family.
genes like me logo Genes that share domains with AWAT2: view

Function for AWAT2 Gene

Molecular function for AWAT2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Vmax=1232 pmol/min/mg enzyme with [14C]cetyl-CoA as substrate {ECO:0000269 PubMed:15671038};
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + a long-chain alcohol = CoA + a long-chain ester.
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + retinol = CoA + retinyl ester.
UniProtKB/Swiss-Prot Function:
Acyltransferase that predominantly esterify long chain (wax) alcohols with acyl-CoA-derived fatty acids to produce wax esters. Wax esters are enriched in sebum, suggesting that it plays a central role in lipid metabolism in skin. Has no activity using decyl alcohol and significantly prefers the C16 and C18 alcohols. May also have 2-acylglycerol O-acyltransferase (MGAT) and acyl-CoA:retinol acyltransferase (ARAT) activities, to catalyze the synthesis of diacylglycerols and retinyl esters; however this activity is unclear in vivo.

Enzyme Numbers (IUBMB) for AWAT2 Gene

Gene Ontology (GO) - Molecular Function for AWAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003846 2-acylglycerol O-acyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
GO:0047196 long-chain-alcohol O-fatty-acyltransferase activity EXP 15220349
genes like me logo Genes that share ontologies with AWAT2: view
genes like me logo Genes that share phenotypes with AWAT2: view

Animal Model Products

CRISPR Products

miRNA for AWAT2 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AWAT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AWAT2 Gene

Localization for AWAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AWAT2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AWAT2 gene
Compartment Confidence
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for AWAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AWAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AWAT2 Gene

Pathways & Interactions for AWAT2 Gene

genes like me logo Genes that share pathways with AWAT2: view

Interacting Proteins for AWAT2 Gene

Gene Ontology (GO) - Biological Process for AWAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0010025 wax biosynthetic process TAS,IEA --
GO:0036155 acylglycerol acyl-chain remodeling TAS --
GO:0042572 retinol metabolic process IEA --
genes like me logo Genes that share ontologies with AWAT2: view

No data available for SIGNOR curated interactions for AWAT2 Gene

Drugs & Compounds for AWAT2 Gene

(7) Drugs for AWAT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved Pharma 0
Vitamin A Approved, Vet_approved Nutra 511
1-Butanol Experimental Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(48) Additional Compounds for AWAT2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (E)-S-2-decenoate
  • (E)-S-2-decenoate CoA
  • (E)-S-2-decenoate Coenzyme A
  • (E)-S-2-decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
4460-95-1
(2E)-Octenoyl-CoA
  • (E)-S-2-octenoate
  • (E)-S-2-octenoate CoA
  • (E)-S-2-octenoate Coenzyme A
  • (E)-S-2-octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with AWAT2: view

Transcripts for AWAT2 Gene

mRNA/cDNA for AWAT2 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AWAT2 Gene

Acyl-CoA wax alcohol acyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AWAT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AWAT2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b
SP1: - - -
SP2: -
SP3: - - -
SP4:
SP5:

Relevant External Links for AWAT2 Gene

GeneLoc Exon Structure for
AWAT2
ECgene alternative splicing isoforms for
AWAT2

Expression for AWAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AWAT2 Gene

mRNA differential expression in normal tissues according to GTEx for AWAT2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x32.0) and Skin - Sun Exposed (Lower leg) (x16.4).

NURSA nuclear receptor signaling pathways regulating expression of AWAT2 Gene:

AWAT2

SOURCE GeneReport for Unigene cluster for AWAT2 Gene:

Hs.661507

mRNA Expression by UniProt/SwissProt for AWAT2 Gene:

Q6E213-AWAT2_HUMAN
Tissue specificity: Abundant in tissues rich in sebaceous glands such as the preputial gland and eyelid. Highly expressed in skin, where it is primarily restricted to undifferentiated peripheral sebocytes. Also expressed at lower level in other tissues except pancreas.

Evidence on tissue expression from TISSUES for AWAT2 Gene

  • Skin(4)
genes like me logo Genes that share expression patterns with AWAT2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AWAT2 Gene

Orthologs for AWAT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for AWAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AWAT2 33 34
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia AWAT2 33 34
  • 86.69 (n)
mouse
(Mus musculus)
Mammalia Awat2 33 16 34
  • 85.99 (n)
cow
(Bos Taurus)
Mammalia AWAT2 33 34
  • 84.74 (n)
rat
(Rattus norvegicus)
Mammalia Awat2 33
  • 84.38 (n)
oppossum
(Monodelphis domestica)
Mammalia AWAT2 34
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1942 34
  • 29 (a)
ManyToMany
CG1941 34
  • 28 (a)
ManyToMany
CG1946 34
  • 28 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y53G8B.2 34
  • 34 (a)
ManyToMany
dgat-2 34
  • 33 (a)
ManyToMany
dgtr-1 34
  • 33 (a)
ManyToMany
K07B1.4 34
  • 32 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DGA1 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 39 (a)
OneToMany
Species where no ortholog for AWAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for AWAT2 Gene

ENSEMBL:
Gene Tree for AWAT2 (if available)
TreeFam:
Gene Tree for AWAT2 (if available)

Paralogs for AWAT2 Gene

Paralogs for AWAT2 Gene

(6) SIMAP similar genes for AWAT2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AWAT2: view

Variants for AWAT2 Gene

Sequence variations from dbSNP and Humsavar for AWAT2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000110599 -- 70,051,476(+) AGAAA(-/C)CCCCA upstream-variant-2KB
rs1000279198 -- 70,041,475(+) GCACA(C/T)GCAGT utr-variant-3-prime
rs1000405795 -- 70,050,187(+) TTTGC(A/G)CACTT upstream-variant-2KB
rs1000797425 -- 70,041,131(+) TTGGA(A/G)AAGAA utr-variant-3-prime
rs1001570251 -- 70,048,407(+) CCAAT(G/T)CTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AWAT2 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv3574029 CNV loss 25503493
nsv6949 CNV insertion 18451855

Variation tolerance for AWAT2 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.72; 15.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AWAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AWAT2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AWAT2 Gene

Disorders for AWAT2 Gene

Relevant External Links for AWAT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AWAT2

No disorders were found for AWAT2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AWAT2 Gene

Publications for AWAT2 Gene

  1. Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. (PMID: 15671038) Turkish AR … Sturley SL (The Journal of biological chemistry 2005) 2 3 4 60
  2. A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters. (PMID: 16106050) Yen CL … Farese RV (Journal of lipid research 2005) 2 3 4 60
  3. Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals. (PMID: 14970677) Winter A … Fries R (Cytogenetic and genome research 2003) 2 3 4 60
  4. Comparative genomics and proteomics of vertebrate diacylglycerol acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT) and monoacylglycerol acyltransferase (MGAT). (PMID: 20374941) Holmes RS (Comparative biochemistry and physiology. Part D, Genomics & proteomics 2010) 3 22 60
  5. Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. (PMID: 15220349) Cheng JB … Russell DW (The Journal of biological chemistry 2004) 3 4 60

Products for AWAT2 Gene

Sources for AWAT2 Gene

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