DGAT2 diacylglycerol O-acyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DGAT2provided by HGNC
Official Full Name: diacylglycerol O-acyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:16940
See related: Ensembl:ENSG00000062282 MIM:606983; AllianceGenome:HGNC:16940
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARAT; HMFN1045; GS1999FULL
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 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]
Expression: Biased expression in fat (RPKM 381.0), liver (RPKM 87.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (75768778..75801534)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (75698501..75731257)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (75479823..75512579)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of DGAT1 and DGAT2 in regulating tumor cell growth and their potential clinical implications.
Title: The role of DGAT1 and DGAT2 in regulating tumor cell growth and their potential clinical implications.
The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background.
Title: The roles of DGAT1 and DGAT2 in human myotubes are dependent on donor patho-physiological background.
Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.
Title: Preferential lipolysis of DGAT1 over DGAT2 generated triacylglycerol in Huh7 hepatocytes.
DGAT2 Inhibition Potentiates Lipid Droplet Formation To Reduce Cytotoxicity in APOL1 Kidney Risk Variants.
Title: DGAT2 Inhibition Potentiates Lipid Droplet Formation To Reduce Cytotoxicity in APOL1 Kidney Risk Variants.
ACC inhibitor alone or co-administered with a DGAT2 inhibitor in patients with non-alcoholic fatty liver disease: two parallel, placebo-controlled, randomized phase 2a trials.
Title: ACC inhibitor alone or co-administered with a DGAT2 inhibitor in patients with non-alcoholic fatty liver disease: two parallel, placebo-controlled, randomized phase 2a trials.
Obesity promotes gastric cancer metastasis via diacylglycerol acyltransferase 2-dependent lipid droplets accumulation and redox homeostasis.
Title: Obesity promotes gastric cancer metastasis via diacylglycerol acyltransferase 2-dependent lipid droplets accumulation and redox homeostasis.
These data suggest that Dgat2 is an important regulator of HCC cell proliferation.
Title: Dgat2 reduces hepatocellular carcinoma malignancy via downregulation of cell cycle-related gene expression.
A binding assay utilizing (125)I-labeled imidazopyridine demonstrated that the level of imidazopyridine binding to DGAT2 mutant enzymes, H161A and H163A, dramatically decreased to 11-17% of that of the wild-type enzyme, indicating that these residues are critical for imidazopyridines to bind to DGAT2.
Title: Mechanistic Characterization of Long Residence Time Inhibitors of Diacylglycerol Acyltransferase 2 (DGAT2).
DGAT2 contains a C-terminal signal sequence that interacts with lipid droplets.
Title: Diacylglycerol acyltransferase-2 contains a c-terminal sequence that interacts with lipid droplets.
Study identified a large cohort of patients with congenital diarrheal disorders with mutations in DGAT1 that reduced expression of its product; dermal fibroblasts and intestinal organoids derived from these patients had altered lipid metabolism and were susceptible to lipid-induced cell death. Expression of full-length wildtype DGAT1 or DGAT2 restored normal lipid metabolism in these cells.
Title: Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D11S1008 (e-PCR)
- UniSTS:10573

D10S16 (e-PCR)
- UniSTS:155756

RH103080 (e-PCR)
- UniSTS:97414

G42985 (e-PCR)
- UniSTS:94858

RH17957 (e-PCR)
- UniSTS:44437

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-acylglycerol O-acyltransferase activity	IEA Inferred from Electronic Annotation more info
enables diacylglycerol O-acyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables diacylglycerol O-acyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables diacylglycerol O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables retinol O-fatty-acyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to oleic acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in diacylglycerol biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in diacylglycerol metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diacylglycerol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in fat pad development	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycerol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular triglyceride homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid storage	ISS Inferred from Sequence or Structural Similarity more info
involved_in long-chain fatty-acyl-CoA metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in low-density lipoprotein particle clearance	ISS Inferred from Sequence or Structural Similarity more info
involved_in monoacylglycerol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of plasma lipoprotein particle levels	ISS Inferred from Sequence or Structural Similarity more info
involved_in retinol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in triglyceride biosynthetic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IC Inferred by Curator more info	PubMed
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with lipid droplet	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: diacylglycerol O-acyltransferase 2

Names: acyl-CoA retinol O-fatty-acyltransferase; diacylglycerol O-acyltransferase homolog 2; diacylglycerol O-acyltransferase-like protein 2; diglyceride acyltransferase 2

NP_001240820.1

EC 2.3.1.20

EC 2.3.1.76

NP_115953.2

EC 2.3.1.20

EC 2.3.1.76

XP_011543606.1

EC 2.3.1.20

EC 2.3.1.76

XP_047283672.1

EC 2.3.1.20

EC 2.3.1.76

XP_054226179.1

EC 2.3.1.20

EC 2.3.1.76

XP_054226180.1

EC 2.3.1.20

EC 2.3.1.76

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046775.1 RefSeqGene

Range

5046..37802

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001253891.2 → NP_001240820.1 diacylglycerol O-acyltransferase 2 isoform 2

See identical proteins and their annotated locations for NP_001240820.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AI126704, AP001922, AP003031, AY780647

Consensus CDS

CCDS58162.1

UniProtKB/TrEMBL

S4R3S3

Related

ENSP00000365438.3, ENST00000376262.7

Conserved Domains (1) summary

pfam03982
Location:49 → 345

DAGAT; Diacylglycerol acyltransferase
NM_032564.5 → NP_115953.2 diacylglycerol O-acyltransferase 2 isoform 1

See identical proteins and their annotated locations for NP_115953.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).

Source sequence(s)

AL834287, DB462004

Consensus CDS

CCDS31642.1

UniProtKB/Swiss-Prot

A6ND76, Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q96PD7, Q9BYE5

Related

ENSP00000228027.6, ENST00000228027.12

Conserved Domains (1) summary

pfam03982
Location:92 → 388

DAGAT; Diacylglycerol acyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

75768778..75801534

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011545304.3 → XP_011543606.1 diacylglycerol O-acyltransferase 2 isoform X1

Conserved Domains (1) summary

pfam03982
Location:62 → 358

DAGAT; Diacylglycerol acyltransferase
XM_047427716.1 → XP_047283672.1 diacylglycerol O-acyltransferase 2 isoform X2