DGAT2 (diacylglycerol O-acyltransferase 2)

Gene

• Entrez ID: 84649
• Gene name: Diacylglycerol O-acyltransferase 2
• Gene symbol: DGAT2
• Synonyms (NCBI Gene): ARAT, GS1999FULL, HMFN1045
• Chromosome: 11
• Chromosome location: 11q13.5
• Summary: 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 magne

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT567789	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT567788	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT567787	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT567786	hsa-miR-3609	PAR-CLIP	20371350
MIRT567785	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT567784	hsa-miR-4476	PAR-CLIP	20371350
MIRT567783	hsa-miR-6876-5p	PAR-CLIP	20371350
MIRT567782	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT567781	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT567780	hsa-miR-3664-3p	PAR-CLIP	20371350
MIRT567779	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT567778	hsa-miR-3975	PAR-CLIP	20371350
MIRT567777	hsa-miR-2467-5p	PAR-CLIP	20371350
MIRT567776	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT567775	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT567774	hsa-miR-3188	PAR-CLIP	20371350
MIRT567773	hsa-miR-4316	PAR-CLIP	20371350
MIRT497958	hsa-miR-3133	PAR-CLIP	22291592
MIRT497957	hsa-miR-4511	PAR-CLIP	22291592
MIRT497956	hsa-miR-320e	PAR-CLIP	22291592
MIRT497955	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT440825	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440825	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT567789	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT567788	hsa-miR-548az-5p	PAR-CLIP	20371350
MIRT567787	hsa-miR-548t-5p	PAR-CLIP	20371350
MIRT567786	hsa-miR-3609	PAR-CLIP	20371350
MIRT567785	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT567784	hsa-miR-4476	PAR-CLIP	20371350
MIRT567783	hsa-miR-6876-5p	PAR-CLIP	20371350
MIRT567782	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT567781	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT567780	hsa-miR-3664-3p	PAR-CLIP	20371350
MIRT567779	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT567778	hsa-miR-3975	PAR-CLIP	20371350
MIRT567777	hsa-miR-2467-5p	PAR-CLIP	20371350
MIRT567776	hsa-miR-485-5p	PAR-CLIP	20371350
MIRT567775	hsa-miR-6884-5p	PAR-CLIP	20371350
MIRT567774	hsa-miR-3188	PAR-CLIP	20371350
MIRT567773	hsa-miR-4316	PAR-CLIP	20371350
MIRT497958	hsa-miR-3133	PAR-CLIP	22291592
MIRT497957	hsa-miR-4511	PAR-CLIP	22291592
MIRT497956	hsa-miR-320e	PAR-CLIP	22291592
MIRT497955	hsa-miR-203a-3p	PAR-CLIP	22291592
MIRT933603	hsa-miR-1205	CLIP-seq
MIRT933604	hsa-miR-1273d	CLIP-seq
MIRT933605	hsa-miR-1295	CLIP-seq
MIRT933606	hsa-miR-1909	CLIP-seq
MIRT933607	hsa-miR-1912	CLIP-seq
MIRT933608	hsa-miR-3185	CLIP-seq
MIRT933609	hsa-miR-3202	CLIP-seq
MIRT933610	hsa-miR-331-3p	CLIP-seq
MIRT933611	hsa-miR-3679-3p	CLIP-seq
MIRT933612	hsa-miR-4663	CLIP-seq
MIRT933613	hsa-miR-4747-3p	CLIP-seq
MIRT933614	hsa-miR-616	CLIP-seq
MIRT933615	hsa-miR-668	CLIP-seq
MIRT933616	hsa-miR-873	CLIP-seq
MIRT2211795	hsa-miR-1910	CLIP-seq
MIRT2211796	hsa-miR-2110	CLIP-seq
MIRT2211797	hsa-miR-3157-5p	CLIP-seq
MIRT2211798	hsa-miR-324-5p	CLIP-seq
MIRT2211799	hsa-miR-4271	CLIP-seq
MIRT2211800	hsa-miR-4661-3p	CLIP-seq
MIRT2211801	hsa-miR-4667-5p	CLIP-seq
MIRT2211802	hsa-miR-4691-3p	CLIP-seq
MIRT2211803	hsa-miR-4700-5p	CLIP-seq
MIRT2211804	hsa-miR-4716-5p	CLIP-seq
MIRT2211805	hsa-miR-4725-3p	CLIP-seq
MIRT2211806	hsa-miR-4747-5p	CLIP-seq
MIRT2211807	hsa-miR-486-3p	CLIP-seq
MIRT2211808	hsa-miR-548ag	CLIP-seq
MIRT2211809	hsa-miR-548ai	CLIP-seq
MIRT2211810	hsa-miR-637	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003846	Function	2-acylglycerol O-acyltransferase activity	IEA
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	EXP	11481335
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IBA
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IDA	11481335, 27184406
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	30970241
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	14521909
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IC	14521909
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	27184406
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA	27184406
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006071	Process	Glycerol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006640	Process	Monoacylglycerol biosynthetic process	IDA	28420705
GO:0006651	Process	Diacylglycerol biosynthetic process	IEA
GO:0006651	Process	Diacylglycerol biosynthetic process	ISS
GO:0007584	Process	Response to nutrient	IEA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0010867	Process	Positive regulation of triglyceride biosynthetic process	IEA
GO:0016020	Component	Membrane	IDA	11481335
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IBA
GO:0019432	Process	Triglyceride biosynthetic process	IDA	11481335, 27184406
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0019915	Process	Lipid storage	IEA
GO:0019915	Process	Lipid storage	ISS
GO:0034383	Process	Low-density lipoprotein particle clearance	IEA
GO:0034383	Process	Low-density lipoprotein particle clearance	ISS
GO:0035336	Process	Long-chain fatty-acyl-CoA metabolic process	IDA	11481335
GO:0035336	Process	Long-chain fatty-acyl-CoA metabolic process	IEA
GO:0035356	Process	Intracellular triglyceride homeostasis	IEA
GO:0035356	Process	Intracellular triglyceride homeostasis	ISS
GO:0042572	Process	Retinol metabolic process	IEA
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0045722	Process	Positive regulation of gluconeogenesis	IEA
GO:0046322	Process	Negative regulation of fatty acid oxidation	IEA
GO:0046339	Process	Diacylglycerol metabolic process	IBA
GO:0046339	Process	Diacylglycerol metabolic process	IDA	11481335
GO:0046339	Process	Diacylglycerol metabolic process	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0050252	Function	Retinol O-fatty-acyltransferase activity	IEA
GO:0050746	Process	Regulation of lipoprotein metabolic process	IEA
GO:0055089	Process	Fatty acid homeostasis	IEA
GO:0055089	Process	Fatty acid homeostasis	ISS
GO:0060613	Process	Fat pad development	IEA
GO:0060613	Process	Fat pad development	ISS
GO:0071400	Process	Cellular response to oleic acid	IEA
GO:0071400	Process	Cellular response to oleic acid	ISS
GO:0090181	Process	Regulation of cholesterol metabolic process	IEA
GO:0097006	Process	Regulation of plasma lipoprotein particle levels	IEA
GO:0097006	Process	Regulation of plasma lipoprotein particle levels	ISS
GO:1990578	Component	Perinuclear endoplasmic reticulum membrane	IDA	27184406

Other IDs

• MIM: 606983
• HGNC: 16940
• e!Ensembl: ENSG00000062282

Protein

• UniProt ID: Q96PD7
• Protein name: Diacylglycerol O-acyltransferase 2 (EC 2.3.1.20) (Acyl-CoA retinol O-fatty-acyltransferase) (ARAT) (Retinol O-fatty-acyltransferase) (EC 2.3.1.76) (Diglyceride acyltransferase 2)
• Protein 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:271844
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03982	DAGAT	92 → 388	Diacylglycerol acyltransferase	Family

• Tissue specificity: 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. {ECO:0000269|PubMe
• Sequence:

  MKTLIAAYSGVLRGERQAEADRSQRSHGGPALSREGSGRWGTGSSILSALQDLFSVTWLN
  RSKVEKQLQVISVLQWVLSFLVLGVACSAILMYIFCTDCWLIAVLYFTWLVFDWNTPKKG
  GRRSQWVRNWAVWRYFRDYFPIQLVKTHNLLTTRNYIFGYHPHGIMGLGAFCNFSTEATE
  VSKKFPGIRPYLATLAGNFRMPVLREYLMSGGICPVSRDTIDYLLSKNGSGNAIIIVVGG
  AAESLSSMPGKNAVTLRNRKGFVKLALRHGADLVPIYSFGENEVYKQVIFEEGSWGRWVQ
  KKFQKYIGFAPCIFHGRGLFSSDTWGLVPYSKPITTVVGEPITIPKLEHPTQQDIDLYHT
  MYMEALVKLFDKHKTKFGLPETEVLEVN

• Sequence length: 388

Pathways

KEGG:

Glycerolipid metabolism
Metabolic pathways
Fat digestion and absorption

Reactome:

Acyl chain remodeling of DAG and TAG
Triglyceride biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO DGAT2 MUTATION	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	ClinVar, Disgenet, GenCC ClinVar, Disgenet, GenCC ClinVar, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2A1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	20739640		★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	37247276	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34440687	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	38644620	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36728187	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	31345219	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	26786738		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	CTD_human_DG	27989131		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	35462437	Inhibit	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	22315393, 25997070, 29706567		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	18980578, 20739640, 27497686, 28366540, 31081165		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	38644620, 39241103	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31776293		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	20739640		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	30422629		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	31019978		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31078041		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	32506038	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27113481		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30108796		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27113481		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	26786738		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31081165		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	17477860, 17726433, 28243972, 29706567		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17477860	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29568943	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31822493		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36741233	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31822493		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	32506038	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27113481		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	27113481		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	18980578, 20739640, 27497686, 28366540, 29797206, 30192394, 31081165		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32506038	Associate	★☆☆☆☆ Found in Text Mining only