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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AWAT2 Gene

protein-coding   GIFtS: 46
GCID: GC0XM069178

acyl-CoA wax alcohol acyltransferase 2

(Previous name: diacylglycerol O-acyltransferase 2-like 4 )
(Previous symbol: DGAT2L4)
 Explore 1 disease affiliated with
AWAT2 via our new
 Human Malady Compendium 
Biological research products
for AWAT2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Acyl-CoA Wax Alcohol Acyltransferase 21 2     ARAT2 3
DGAT2L41 2 3     DC42 3
MFAT1 2 3     WS2 3
Acyl-CoA Retinol O-Fatty-Acyltransferase2 3     Diacylglycerol O-Acyltransferase 2-Like 41
Diacylglycerol O-Acyltransferase 2-Like Protein 42 3     EC 2.3.1.753
Diacylglycerol O-Acyltransferase Candidate 42 3     EC 2.3.1.763
Long-Chain-Alcohol O-Fatty-Acyltransferase 22 3     HDC41
Multifunctional O-Acyltransferase2 3     HWS1
Retinol O-Fatty-Acyltransferase2 3     Wax Synthase3

External Ids:    HGNC: 232511   Entrez Gene: 1588352   Ensembl: ENSG000001471607   UniProtKB: Q6E2133   

Export aliases for AWAT2 gene to outside databases

Previous GC identifer: GC0XM063081


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AWAT2:
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)

UniProtKB/Swiss-Prot: AWAT2_HUMAN, Q6E213
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AWAT2 gene promoter:
         SRF   SRF (504 AA)   Brachyury   HNF-4alpha2   NF-AT   HNF-4alpha1   NF-AT2   FOXC1   SEF-1 (1)   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAWAT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for AWAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AWAT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

AWAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AWAT2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM069178:  view genomic region     (about GC identifiers)

Start:
69,260,392 bp from pter      End:
69,269,788 bp from pter
Size:
9,397 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AWAT2_HUMAN, Q6E213 (See protein sequence)
Recommended Name: Acyl-CoA wax alcohol acyltransferase 2  
Size: 333 amino acids; 38094 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: Q6IEE3 Q6P437

Explore the universe of human proteins at neXtProt for AWAT2: NX_Q6E213

AWAT2 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_001002254.1  
ENSEMBL proteins: 
 ENSP00000421172   ENSP00000427523  

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Uscn Proteins for AWAT2

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005789endoplasmic reticulum membrane IEA--
GO:0016021integral to membrane IEA--


AWAT2 for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AWAT2 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR007130 DAGAT

Graphical View of Domain Structure for InterPro Entry Q6E213

ProtoNet protein and cluster: Q6E213

UniProtKB/Swiss-Prot: AWAT2_HUMAN, Q6E213
Similarity: Belongs to the diacylglycerol acyltransferase family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     UniProtKB/Swiss-Prot: AWAT2_HUMAN, Q6E213
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
Catalytic activity: Acyl-CoA + a long-chain alcohol = CoA + a long-chain ester
Catalytic activity: Acyl-CoA + retinol = CoA + retinyl ester
Biophysicochemical properties: Kinetic parameters: Vmax=1232 pmol/min/mg enzyme with [14C]cetyl-CoA as substrate;

Enzyme Numbers (IUBMB): EC 2.3.1.761 EC 2.3.1.751

miRNA
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2 QIAGEN miScript miRNA Assays for microRNAs that regulate AWAT2:
hsa-miR-3128 hsa-miR-1827
SwitchGear 3'UTR luciferase reporter plasmidAWAT2 3' UTR sequence
Inhib. RNA
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In Situ Assay
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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
GO:0047196long-chain-alcohol O-fatty-acyltransferase activity IEA--
GO:0050252retinol O-fatty-acyltransferase activity IEA--


AWAT2 for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for AWAT2:
 Decreased cilium length after  


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Vitamin A and carotenoid metabolism
Vitamin A and carotenoid metabolism1.00
2Vitamin digestion and absorption
Vitamin digestion and absorption1.00
3Drug metabolism - cytochrome P450
Retinol metabolism0.40

Pathway sources
See GeneCards unified pathways
Show all pathways


1 BioSystems Pathway for AWAT2 
    Vitamin A and carotenoid metabolism


2         Kegg Pathways  (Kegg details for AWAT2):
    Retinol metabolism
Vitamin digestion and absorption


AWAT2 for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AWAT2

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0010025wax biosynthetic process IEA--


AWAT2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AWAT2

10/894 HMDB Compounds for AWAT2 (see all 894)    About this table
CompoundSynonyms CAS #PubMed Ids
DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
(2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
(2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
(2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
(2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
(2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
1-Butanol1-Butanol (see all 10)71-36-3--
1-Hexadecanol1-Cetanol (see all 82)36653-82-4--
1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
1-Pentanol1-Pentol (see all 34)71-41-0--
Search CenterWatch for drugs/clinical trials and news about AWAT2 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AWAT2 gene: 
NM_001002254.1  

Unigene Cluster for AWAT2:

Acyl-CoA wax alcohol acyltransferase 2
Hs.661507  [show with all ESTs]
Unigene Representative Sequence: NM_001002254
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000276101(uc004dxt.1) ENST00000440401 ENST00000443056

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hsa-miR-3128 hsa-miR-1827
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Inhib. RNA
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Additional cDNA sequence: 

AY605053.1 BC063698.1 

2 DOTS entries:

DT.406619  DT.95358368 

14 AceView cDNA sequences:

NM_001002254 BX096548 AY605053 AA629135 BC063698 BG743254 BX110378 BG740651 
BG742848 AA252887 BG743236 AA253425 BG674003 AA969335 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for AWAT2    About this scheme

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


ECgene alternative splicing isoforms for AWAT2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AWAT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
SOURCE GeneReport for Unigene cluster: Hs.661507

UniProtKB/Swiss-Prot: AWAT2_HUMAN, Q6E213
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

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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for AWAT2 gene from 4/19 species (see all 19)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
fruit fly
(Drosophila melanogaster)
Insecta CG19426
CG19416
(see all 3)
--
30(a)
29(a)
(see all 3)
possible ortholog
possible ortholog
(see all 3)
2R(3600128-3601695)
2R(3597379-3599494)
worm
(Caenorhabditis elegans)
Secernentea K07B1.46
F59A1.106
(see all 4)
Protein F59A1.10
(see all 4)
34(a)
34(a)
(see all 4)
possible ortholog
possible ortholog
(see all 4)
V(9328946-9331496)
V(17660278-17661785)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G515206
diacylglycerol O-acyltransferase 2
25(a)
possible ortholog
3(19110596-19112760)
rice
(Oryza sativa)
Liliopsida --
--
diacylglycerol O-acyltransferase, putative, expres...
diacylglycerol O-acyltransferase, putative, expres...
23(a)
22(a)
possible ortholog
possible ortholog
2(29593105-29595977)
6(12808567-12811496)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for AWAT2 gene
MOGAT32  DGAT2L7P2  MOGAT12  DGAT22  DGAT2L62  AWAT12  MOGAT22  
6 SIMAP similar genes for AWAT2 using alignment to 2 protein entries:     AWAT2_HUMAN (see all proteins):
AWAT1    DGAT2L6    DGAT2    MOGAT3    MOGAT1    MOGAT2

AWAT2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/151 NCBI SNPs in AWAT2 are shown (see all 151    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr X posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs59368261,2
C,H--63081165(+) GTTTTT/GTAAGG 1 -- ds50015Minor allele frequency- G:0.00NS EA NA 414
rs1510037361,2
C,--63081535(+) TCTTTA/GTGGCT 1 -- ut310--------
rs1501335501,2
C,--63082015(+) GGAAGC/TAGGAC 1 -- ut310--------
rs413121301,2
C,--63082698(+) CCAGAA/CTCTTC 1 -- int11Minor allele frequency- C:0.00NA 1
rs559254411,2
--63083147(+) TCAGAA/CCCCAG 1 -- int10--------
rs617356821,2
C,F,--63084311(+) GGGCAG/AATGTC 2 /I syn12Minor allele frequency- A:0.01NS NA 4424
rs1134632791,2
C,--63084411(+) AAAAGG/AACTGC 1 -- int11Minor allele frequency- A:0.50CSA 2
rs1506543901,2
C,--63085175(+) TCTCCA/GGAGTT 1 -- int10--------
rs735497551,2
C,--63085221(+) CCATAT/CCCACT 1 -- int14Minor allele frequency- C:0.20WA CSA 5
rs1118648111,2
C,--63085494(+) TTCACA/GTCCTC 1 -- int11Minor allele frequency- G:0.00CSA 1

HapMap Linkage Disequilibrium report for AWAT2 (69260392 - 69269788 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for AWAT2: --
Locus Specific Mutation Databases (LSDB): AWAT2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AWAT2 for disorders           About GeneDecksing

1 disease for AWAT2:    About MalaCards
alcoholism


Export disorders for AWAT2 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for AWAT2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with AWAT2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Identification of two novel human Acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. (PubMed id 15671038)1, 2, 3 Turkish A.R.... Sturley S.L. (2005)
  2. A human skin multifunctional O-acyltransferase that catalyzes the synthesis of acylglycerols, waxes, and retinyl esters. (PubMed id 16106050)1, 2, 3 Yen C.-L.E.... Farese R.V. Jr. (2005)
  3. Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals. (PubMed id 14970677)1, 2, 3 Winter A....Fries R. (2003)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  5. Mammalian wax biosynthesis. II. Expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. (PubMed id 15220349)1, 2 Cheng J.B. and Russell D.W. (2004)
  6. Comparative genomics and proteomics of vertebrate dia cylglycerol acyltransferase (DGAT), acyl CoA wax alcohol acyltransferase (AWAT) and monoacylglycerol acyltransferase (MGAT). (PubMed id 20374941)1, 9 Holmes R.S. (2010)
  7. Insights into the bile acid transportation system: the human ileal lipid-binding protein-cholyltaurine complex and its comparison with homologous structures. (PubMed id 12486725)6 Kurz M....Kramer W. (2003)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 158835 HGNC: 23251 AceView: DGAT2L4 Ensembl:ENSG00000147160 euGenes: HUgn158835
ECgene: AWAT2 Kegg: 158835 H-InvDB: AWAT2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for AWAT2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for AWAT2 gene:
Search GeneIP for patents involving AWAT2

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