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 vari... See more...

Aliases for DGAT2 Gene

Aliases for DGAT2 Gene

  • Diacylglycerol O-Acyltransferase 2 2 3 4 5
  • Acyl-CoA Retinol O-Fatty-Acyltransferase 3 4
  • Diglyceride Acyltransferase 2 3 4
  • EC 2.3.1.20 4 52
  • ARAT 3 4
  • Diacylglycerol O-Acyltransferase Homolog 2 (Mouse) 2
  • Diacylglycerol O-Acyltransferase-Like Protein 2 3
  • Diacylglycerol O-Acyltransferase Homolog 2 3
  • Retinol O-Fatty-Acyltransferase 4
  • EC 2.3.1.76 4
  • GS1999FULL 3
  • HMFN1045 3
  • EC 2.3.1 52

External Ids for DGAT2 Gene

Previous GeneCards Identifiers for DGAT2 Gene

  • GC11P077806
  • GC11P077018
  • GC11P075693
  • GC11P075206
  • GC11P075157
  • GC11P075479
  • GC11P071776

Summaries for DGAT2 Gene

Entrez Gene Summary for DGAT2 Gene

  • 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]

GeneCards Summary for DGAT2 Gene

DGAT2 (Diacylglycerol O-Acyltransferase 2) is a Protein Coding gene. Diseases associated with DGAT2 include Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Dgat2 Mutation and Pellagra. Among its related pathways are triacylglycerol biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 2-acylglycerol O-acyltransferase activity. An important paralog of this gene is DGAT2L6.

UniProtKB/Swiss-Prot Summary for DGAT2 Gene

  • 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 (PubMed:27184406). 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).

Tocris Summary for DGAT2 Gene

  • Diacylglycerol O-Acyltransferases (DGATs), EC 2.3.1.20, are enzymes that catalyze the final step of triglyceride (TG) synthesis, the covalent attachment of fatty acyl-CoA and diacylglycerol (DAG). There have been two DGAT isoforms identified to date, DGAT1 and DGAT2.

Additional gene information for DGAT2 Gene

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGAT2 Gene

Genomics for DGAT2 Gene

GeneHancer (GH) Regulatory Elements for DGAT2 Gene

Promoters and enhancers for DGAT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J075767 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.9 +9.9 9936 3.1 FOXK2 HNRNPK ZNF217 EP300 CTCF NRF1 TCF12 POLR2G USF1 SP1 DGAT2 LOC283214 SERPINH1 RPS3 EMSY ENSG00000254814 MOGAT2 LINC02757 ENSG00000254826
GH11J075821 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 21.1 +65.1 65086 7.1 ZBTB40 SP1 EP300 RELA MEF2C TRIM22 BCL11A ZNF384 SRF ARNT DGAT2 ENSG00000254814 MOGAT2 THAP12 UVRAG ARRB1 UVRAG-DT ENSG00000200256
GH11J075785 Enhancer 1 Ensembl ENCODE dbSUPER 21.2 +27.0 27004 2.2 USF1 TFDP1 RBM22 NBN POLR2A EHMT2 RXRA HDGF HNF4A BHLHE40 DGAT2 ENSG00000255421 MOGAT2 RF01045-027 ENSG00000254814
GH11J075273 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -481.9 -481909 7.7 ZNF217 CTCF GABPA REST RAD21 CTBP1 TRIM22 SMC3 ZNF341 NR2F2 ARRB1 MIR326 DGAT2 lnc-KLHL35-5 lnc-KLHL35-6
GH11J075812 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 8 +55.7 55688 6.2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G USF1 SP1 PHF8 JUND UVRAG UVRAG-DT EMSY THAP12 DGAT2 ENSG00000255326
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGAT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGAT2

Top Transcription factor binding sites by QIAGEN in the DGAT2 gene promoter:
  • C/EBPbeta
  • E2F
  • E2F-1
  • GATA-6
  • HOXA5
  • Pax-4a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for DGAT2 Gene

Genomic Locations for DGAT2 Gene
chr11:75,759,512-75,801,536
(GRCh38/hg38)
Size:
42,025 bases
Orientation:
Plus strand
chr11:75,470,557-75,512,579
(GRCh37/hg19)
Size:
42,023 bases
Orientation:
Plus strand

Genomic View for DGAT2 Gene

Genes around DGAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGAT2 Gene

Proteins for DGAT2 Gene

  • Protein details for DGAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PD7-DGAT2_HUMAN
    Recommended name:
    Diacylglycerol O-acyltransferase 2
    Protein Accession:
    Q96PD7
    Secondary Accessions:
    • A6ND76
    • Q5U810
    • Q68CL3
    • Q68DJ0
    • Q8NDB7
    • Q96BS0
    • Q9BYE5

    Protein attributes for DGAT2 Gene

    Size:
    388 amino acids
    Molecular mass:
    43831 Da
    Quaternary structure:
    • Forms multimeric complexes consisting of several DGAT2 subunits.
    SequenceCaution:
    • Sequence=BAD38635.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAD38961.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DGAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DGAT2 Gene

Selected DME Specific Peptides for DGAT2 Gene

Q96PD7:
  • QKKFQKY
  • LQVISVLQ
  • VSKKFPGI
  • GGAAESL
  • YSFGENEVYKQ
  • VLQWVLSFL
  • LATLAGNFR
  • WVRNWAVWRYFRDYFP
  • PITTVVG

Post-translational modifications for DGAT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for DGAT2 Gene

Gene Families for DGAT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DGAT2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DGAT2 Gene

GenScript: Design optimal peptide antigens:
  • Diglyceride acyltransferase 2 (DGAT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PD7

UniProtKB/Swiss-Prot:

DGAT2_HUMAN :
  • Belongs to the diacylglycerol acyltransferase family.
Family:
  • Belongs to the diacylglycerol acyltransferase family.
genes like me logo Genes that share domains with DGAT2: view

Function for DGAT2 Gene

Molecular function for DGAT2 Gene

UniProtKB/Swiss-Prot 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 (PubMed:27184406). 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA; Xref=Rhea:RHEA:10868, ChEBI:CHEBI:17815, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:64615; EC=2.3.1.20; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=all-trans-retinol + an acyl-CoA = an all-trans-retinyl ester + CoA; Xref=Rhea:RHEA:11488, ChEBI:CHEBI:17336, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:63410; EC=2.3.1.76; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by niacin.

Enzyme Numbers (IUBMB) for DGAT2 Gene

Phenotypes From GWAS Catalog for DGAT2 Gene

Gene Ontology (GO) - Molecular Function for DGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003846 2-acylglycerol O-acyltransferase activity IEA --
GO:0004144 diacylglycerol O-acyltransferase activity EXP,IDA 11481335
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 --
genes like me logo Genes that share ontologies with DGAT2: view
genes like me logo Genes that share phenotypes with DGAT2: view

Animal Models for DGAT2 Gene

MGI Knock Outs for DGAT2:

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DGAT2 Gene

Localization for DGAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGAT2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Lipid droplet. Cytoplasm, perinuclear region.

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 DGAT2 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 4
peroxisome 3
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 colocalizes_with mitochondrion ISS --
GO:0005783 endoplasmic reticulum IDA 14521909
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with DGAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGAT2 Gene

Pathways & Interactions for DGAT2 Gene

genes like me logo Genes that share pathways with DGAT2: view

UniProtKB/Swiss-Prot Q96PD7-DGAT2_HUMAN

  • Pathway: Glycerolipid metabolism; triacylglycerol biosynthesis.

Gene Ontology (GO) - Biological Process for DGAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006071 glycerol metabolic process IEA --
GO:0006629 lipid metabolic process IEA --
GO:0010867 positive regulation of triglyceride biosynthetic process IEA --
GO:0019432 triglyceride biosynthetic process TAS --
GO:0019915 lipid storage ISS --
genes like me logo Genes that share ontologies with DGAT2: view

No data available for SIGNOR curated interactions for DGAT2 Gene

Drugs & Compounds for DGAT2 Gene

(11) Drugs for DGAT2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Inositol nicotinate Approved, Withdrawn Pharma Enzyme, inhibitor 0
Omega-3-carboxylic acids Approved, Investigational Pharma Target, antagonist 0
Fish oil Approved Nutra Target, agonist 0
Vitamin A Approved, Vet_approved Nutra 658
Hexanoyl-CoA Experimental Pharma 0

(41) Additional Compounds for DGAT2 Gene - From: HMDB and Novoseek

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
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
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-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with DGAT2: view

Transcripts for DGAT2 Gene

mRNA/cDNA for DGAT2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DGAT2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - - -
SP2: - - - -
SP3: -
SP4: - - - - - -
SP5:
SP6:

Relevant External Links for DGAT2 Gene

GeneLoc Exon Structure for
DGAT2

Expression for DGAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DGAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DGAT2 Gene

This gene is overexpressed in Whole Blood (x12.3), Adipose - Visceral (Omentum) (x8.6), Liver (x5.2), Adipose - Subcutaneous (x4.9), Breast - Mammary Tissue (x4.4), and Skin - Sun Exposed (Lower leg) (x4.3).

Protein differential expression in normal tissues from HIPED for DGAT2 Gene

This gene is overexpressed in Salivary gland (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DGAT2 Gene



Protein tissue co-expression partners for DGAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGAT2

SOURCE GeneReport for Unigene cluster for DGAT2 Gene:

Hs.129798

mRNA Expression by UniProt/SwissProt for DGAT2 Gene:

Q96PD7-DGAT2_HUMAN
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.

Evidence on tissue expression from TISSUES for DGAT2 Gene

  • Lymph node(4.1)
  • Pancreas(4.1)
  • Liver(3.4)
  • Skin(2.8)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with DGAT2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DGAT2 Gene

Orthologs for DGAT2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DGAT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DGAT2 31 30
  • 99.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DGAT2 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DGAT2 31 30
  • 92.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DGAT2 31 30
  • 90.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dgat2 30
  • 90.29 (n)
mouse
(Mus musculus)
Mammalia Dgat2 17 31 30
  • 89.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves DGAT2 31 30
  • 79.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DGAT2 31
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dgat2 30
  • 73.06 (n)
MGC76066 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68683 30
zebrafish
(Danio rerio)
Actinopterygii dgat2 31 30
  • 69.07 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1941 32
  • 39 (a)
CG1942 32
  • 38 (a)
CG1946 32
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea Y53G8B.2 32
  • 47 (a)
W01A11.2 32
  • 45 (a)
F59A1.10 32
  • 44 (a)
Species where no ortholog for DGAT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for DGAT2 Gene

ENSEMBL:
Gene Tree for DGAT2 (if available)
TreeFam:
Gene Tree for DGAT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DGAT2: view image

Paralogs for DGAT2 Gene

Paralogs for DGAT2 Gene

(6) SIMAP similar genes for DGAT2 Gene using alignment to 5 proteins:

  • DGAT2_HUMAN
  • S4R383_HUMAN
  • S4R3S3_HUMAN
  • S4R3Z3_HUMAN
  • S4R449_HUMAN
genes like me logo Genes that share paralogs with DGAT2: view

Variants for DGAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGAT2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
708403 Benign: not provided 75,797,213(+) T/C SYNONYMOUS_VARIANT
782870 Benign: not provided 75,790,710(+) T/C SYNONYMOUS_VARIANT
rs869025595 Uncertain Significance: not provided. - 75,797,190(+) T/Cp.Tyr223His MISSENSE_VARIANT
rs34113941 - p.Met361Ile
rs34421064 - p.Arg317Gly

Additional dbSNP identifiers (rs#s) for DGAT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DGAT2 Gene

Variant ID Type Subtype PubMed ID
nsv477609 CNV novel sequence insertion 20440878

Variation tolerance for DGAT2 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGAT2 Gene

Human Gene Mutation Database (HGMD)
DGAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGAT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGAT2 Gene

Disorders for DGAT2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DGAT2 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation
  • cmt2 due to dgat2 mutation
pellagra
  • niacin deficiency
mental retardation, autosomal dominant 38
  • mrd38
platelet glycoprotein iv deficiency
  • bleeding disorder, platelet-type, 10; bdplt10
fanconi anemia, complementation group d2
  • fancd2
- elite association - COSMIC cancer census association via MalaCards
Search DGAT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DGAT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DGAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGAT2 Gene

Publications for DGAT2 Gene

  1. Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members. (PMID: 11481335) Cases S … Farese RV (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13. (PMID: 17477860) Friedel S … Hebebrand J (BMC genetics 2007) 3 23 41 54
  3. A novel diacylglycerol acyltransferase (DGAT2) is decreased in human psoriatic skin and increased in diabetic mice. (PMID: 14521909) Wakimoto K … Imai Y (Biochemical and biophysical research communications 2003) 3 4 23 54
  4. Biochemical characterization of human acyl coenzyme A: 2-monoacylglycerol acyltransferase-3 (MGAT3). (PMID: 27184406) Brandt C … Stone SJ (Biochemical and biophysical research communications 2016) 3 4 54
  5. DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease. (PMID: 26786738) Hong YB … Chung KW (Human mutation 2016) 3 4 54

Products for DGAT2 Gene

  • Signalway ELISA kits for DGAT2
  • Signalway Proteins for DGAT2

Sources for DGAT2 Gene