Human Gene DGAT2 (uc001oxa.3)
  Description: Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.
RefSeq Summary (NM_032564): This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].
Transcript (Including UTRs)
   Position: hg19 chr11:75,479,778-75,512,581 Size: 32,804 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr11:75,480,037-75,511,553 Size: 31,517 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:75,479,778-75,512,581)mRNA (may differ from genome)Protein (388 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DGAT2_HUMAN
DESCRIPTION: RecName: Full=Diacylglycerol O-acyltransferase 2; EC=2.3.1.20; AltName: Full=Acyl-CoA retinol O-fatty-acyltransferase; Short=ARAT; Short=Retinol O-fatty-acyltransferase; EC=2.3.1.76; AltName: Full=Diglyceride acyltransferase 2;
FUNCTION: Essential acyltransferase that catalyzes the terminal and only committed step in triacylglycerol synthesis by using diacylglycerol and fatty acyl CoA as substrates. Required for synthesis and storage of intracellular triglycerides. Probably plays a central role in cytosolic lipid accumulation. In liver, is primarily responsible for incorporating endogenously synthesized fatty acids into triglycerides (By similarity). Functions also as an acyl-CoA retinol acyltransferase (ARAT).
CATALYTIC ACTIVITY: Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol.
CATALYTIC ACTIVITY: Acyl-CoA + retinol = CoA + retinyl ester.
ENZYME REGULATION: Inhibited by niacin (By similarity).
PATHWAY: Glycerolipid metabolism; triacylglycerol biosynthesis.
SUBUNIT: Forms multimeric complexes consisting of several DGAT2 subunits (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet (By similarity).
TISSUE SPECIFICITY: Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin.
SIMILARITY: Belongs to the diacylglycerol acyltransferase family.
SEQUENCE CAUTION: Sequence=BAD38635.1; Type=Erroneous initiation; Sequence=CAD38961.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DGAT2
CDC HuGE Published Literature: DGAT2

-  MalaCards Disease Associations
  MalaCards Gene Search: DGAT2
Diseases sorted by gene-association score: pellagra (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 91.59 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 637.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -136.20259-0.526 Picture PostScript Text
3' UTR -374.341028-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007130 - DAGAT

Pfam Domains:
PF03982 - Diacylglycerol acyltransferase

ModBase Predicted Comparative 3D Structure on Q96PD7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003846 2-acylglycerol O-acyltransferase activity
GO:0004144 diacylglycerol O-acyltransferase activity
GO:0016740 transferase activity
GO:0016746 transferase activity, transferring acyl groups
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups
GO:0042803 protein homodimerization activity
GO:0050252 retinol O-fatty-acyltransferase activity

Biological Process:
GO:0006071 glycerol metabolic process
GO:0006629 lipid metabolic process
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0019432 triglyceride biosynthetic process
GO:0019915 lipid storage
GO:0034383 low-density lipoprotein particle clearance
GO:0035336 long-chain fatty-acyl-CoA metabolic process
GO:0035356 cellular triglyceride homeostasis
GO:0036155 acylglycerol acyl-chain remodeling
GO:0042572 retinol metabolic process
GO:0042632 cholesterol homeostasis
GO:0045722 positive regulation of gluconeogenesis
GO:0046322 negative regulation of fatty acid oxidation
GO:0046339 diacylglycerol metabolic process
GO:0050746 regulation of lipoprotein metabolic process
GO:0055089 fatty acid homeostasis
GO:0060613 fat pad development
GO:0071400 cellular response to oleic acid
GO:0090181 regulation of cholesterol metabolic process
GO:0097006 regulation of plasma lipoprotein particle levels

Cellular Component:
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid particle
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC015234 - Homo sapiens diacylglycerol O-acyltransferase homolog 2 (mouse), mRNA (cDNA clone MGC:17861 IMAGE:3903313), complete cds.
AB048286 - Homo sapiens GS1999full mRNA, complete cds.
AY358532 - Homo sapiens clone DNA71184 DGAT2 (UNQ738) mRNA, complete cds.
AL834287 - Homo sapiens mRNA; cDNA DKFZp667C1711 (from clone DKFZp667C1711).
AF384161 - Homo sapiens diacylglycerol acyltransferase 2 mRNA, complete cds.
CU677247 - Synthetic construct Homo sapiens gateway clone IMAGE:100017152 5' read DGAT2 mRNA.
HQ448288 - Synthetic construct Homo sapiens clone IMAGE:100071691; CCSB000739_01 diacylglycerol O-acyltransferase homolog 2 (mouse) (DGAT2) gene, encodes complete protein.
KJ895013 - Synthetic construct Homo sapiens clone ccsbBroadEn_04407 DGAT2 gene, encodes complete protein.
AY780647 - Homo sapiens diacylglycerol O-acyltransferase-like protein 2 isoform 1 (DGAT2) mRNA, partial cds, alternatively spliced.
JD019922 - Sequence 946 from Patent EP1572962.
AB073384 - Homo sapiens infant liver cDNA, clone:HMFN1045, full insert sequence.
AY780646 - Homo sapiens diacylglycerol O-acyltransferase-like protein 2 (DGAT2) mRNA, partial sequence.
JD023058 - Sequence 4082 from Patent EP1572962.
JD495668 - Sequence 476692 from Patent EP1572962.
JD034992 - Sequence 16016 from Patent EP1572962.
JD021829 - Sequence 2853 from Patent EP1572962.
JD033282 - Sequence 14306 from Patent EP1572962.
CR749377 - Homo sapiens mRNA; cDNA DKFZp686A15125 (from clone DKFZp686A15125).
AK091870 - Homo sapiens cDNA FLJ34551 fis, clone HLUNG2009413.
AX747231 - Sequence 756 from Patent EP1308459.
AK074203 - Homo sapiens cDNA FLJ23623 fis, clone ADSE01532.
JD435674 - Sequence 416698 from Patent EP1572962.
JD549913 - Sequence 530937 from Patent EP1572962.
JD551737 - Sequence 532761 from Patent EP1572962.
JD191770 - Sequence 172794 from Patent EP1572962.
JD484084 - Sequence 465108 from Patent EP1572962.
JD520064 - Sequence 501088 from Patent EP1572962.
JD070985 - Sequence 52009 from Patent EP1572962.
JD204149 - Sequence 185173 from Patent EP1572962.
JD365263 - Sequence 346287 from Patent EP1572962.
JD377523 - Sequence 358547 from Patent EP1572962.
JD449019 - Sequence 430043 from Patent EP1572962.
JD449341 - Sequence 430365 from Patent EP1572962.
JD157927 - Sequence 138951 from Patent EP1572962.
JD276219 - Sequence 257243 from Patent EP1572962.
JD434385 - Sequence 415409 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00561 - Glycerolipid metabolism
hsa00830 - Retinol metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-5885 - wax esters biosynthesis II
TRIGLSYN-PWY - triacylglycerol biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q96PD7 (Reactome details) participates in the following event(s):

R-HSA-549192 1,2-diacyl-glycerol + acyl-CoA => triacylglycerol + CoASH [DGAT2]
R-HSA-1482889 DAG is acylated to TAG by DGAT1/2
R-HSA-75109 Triglyceride biosynthesis
R-HSA-1482883 Acyl chain remodeling of DAG and TAG
R-HSA-8979227 Triglyceride metabolism
R-HSA-1483206 Glycerophospholipid biosynthesis
R-HSA-556833 Metabolism of lipids
R-HSA-1483257 Phospholipid metabolism
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A6ND76, DGAT2_HUMAN, HMFN1045, NM_032564, NP_115953, Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q96PD7, Q9BYE5, UNQ738/PRO1433
UCSC ID: uc001oxa.3
RefSeq Accession: NM_032564
Protein: Q96PD7 (aka DGAT2_HUMAN)
CCDS: CCDS31642.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032564.4
exon count: 8CDS single in 3' UTR: no RNA size: 2465
ORF size: 1167CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2470.00frame shift in genome: no % Coverage: 99.55
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.