GeneBe

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 (49 variants)
  • not_provided (13 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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
1
clinvar
 4
missense
49
clinvar
3
clinvar
 52
nonsense
1
clinvar
1
clinvar
 2
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 50 7 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DGAT2protein_codingprotein_codingENST00000228027 842023
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
8.36e-120.14212556501831257480.000728
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8231802140.8420.00001122490
Missense in Polyphen4459.7390.73653719
Synonymous-0.6639486.21.090.00000464782
Loss of Function0.6581922.40.8500.00000136216

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001290.00129
Ashkenazi Jewish0.0002980.000298
East Asian0.0004890.000489
Finnish0.0001390.000139
European (Non-Finnish)0.001040.00104
Middle Eastern0.0004890.000489
South Asian0.0003920.000392
Other0.0009780.000978

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

Haploinsufficiency Scores

pHI
0.139
hipred
N
hipred_score
0.388
ghis
0.436

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dgat2
Phenotype
limbs/digits/tail phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

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