DGAT2

diacylglycerol O-acyltransferase 2, the group of Diacylglycerol O-acyltransferase 2 family

Basic information

Region (hg38): 11:75759512-75801535

Links

ENSG00000062282 ∙ NCBI:84649 ∙ OMIM:606983 ∙ HGNC:16940 ∙ Uniprot:Q96PD7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Charcot-Marie-Tooth disease (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DGAT2 gene.

• not_specified (64 variants)
• not_provided (25 variants)
• Charcot-Marie-Tooth_disease_type_2A1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DGAT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032564.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				8	2	10
missense			61	9	1	71
nonsense			1	1		2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	63	18	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DGAT2	protein_coding	protein_coding	ENST00000228027	8	42023

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125565	0	183	125748	0.000728

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.823	180	214	0.842	0.0000112	2490
Missense in Polyphen		44	59.739	0.73653		719
Synonymous	-0.663	94	86.2	1.09	0.00000464	782
Loss of Function	0.658	19	22.4	0.850	0.00000136	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00129	0.00129
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000489	0.000489
Finnish	0.000139	0.000139
European (Non-Finnish)	0.00104	0.00104
Middle Eastern	0.000489	0.000489
South Asian	0.000392	0.000392
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Function: 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). {ECO:0000250}.
• Pathway: Glycerolipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Triacylglyceride Synthesis;Metabolism of lipids;Acyl chain remodeling of DAG and TAG;Metabolism;Glycerophospholipid metabolism;Triglyceride biosynthesis;Triglyceride metabolism;triacylglycerol biosynthesis;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.138

Intolerance Scores

• loftool: 0.851
• rvis_EVS: 0.35
• rvis_percentile_EVS: 74.37

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.902

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Zebrafish Information Network

• Gene name: dgat2
• Affected structure: liver
• Phenotype tag: abnormal
• Phenotype quality: fatty

Gene ontology

• Biological process: glycerol metabolic process;positive regulation of triglyceride biosynthetic process;triglyceride biosynthetic process;lipid storage;low-density lipoprotein particle clearance;long-chain fatty-acyl-CoA metabolic process;cellular triglyceride homeostasis;acylglycerol acyl-chain remodeling;retinol metabolic process;cholesterol homeostasis;positive regulation of gluconeogenesis;negative regulation of fatty acid oxidation;diacylglycerol metabolic process;regulation of lipoprotein metabolic process;fatty acid homeostasis;fat pad development;cellular response to oleic acid;regulation of cholesterol metabolic process;regulation of plasma lipoprotein particle levels
• Cellular component: mitochondrion;endoplasmic reticulum;endoplasmic reticulum membrane;lipid droplet;integral component of membrane;integral component of endoplasmic reticulum membrane;perinuclear region of cytoplasm;perinuclear endoplasmic reticulum membrane
• Molecular function: 2-acylglycerol O-acyltransferase activity;diacylglycerol O-acyltransferase activity;protein homodimerization activity;retinol O-fatty-acyltransferase activity