DGAT2L6

diacylglycerol O-acyltransferase 2 like 6, the group of Diacylglycerol O-acyltransferase 2 family

Basic information

Region (hg38): X:70177483-70205704

Links

ENSG00000184210 ∙ NCBI:347516 ∙ OMIM:300926 ∙ HGNC:23250 ∙ Uniprot:Q6ZPD8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DGAT2L6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DGAT2L6 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5		5
missense			21	4		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1		1	2
non coding						0
Total	0	0	21	9	0

Variants in DGAT2L6

This is a list of pathogenic ClinVar variants found in the DGAT2L6 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-70177608-T-C		not specified	Uncertain significance (Sep 01, 2024)
X-70177629-T-C		not specified	Uncertain significance (Apr 29, 2024)
X-70177662-T-C		not specified	Uncertain significance (Sep 10, 2024)
X-70199292-T-C		not specified	Uncertain significance (Mar 02, 2023)
X-70199318-T-A		DGAT2L6-related disorder	Likely benign (Dec 09, 2022)
X-70199356-C-T			Likely benign (Apr 01, 2023)
X-70199359-T-C		DGAT2L6-related disorder	Likely benign (Sep 05, 2019)
X-70199376-G-C		not specified	Uncertain significance (Nov 07, 2023)
X-70199820-C-T		not specified	Uncertain significance (Jan 20, 2023)
X-70199863-G-A		not specified	Likely benign (Oct 26, 2024)
X-70199890-C-T		DGAT2L6-related disorder	Benign (Aug 08, 2017)
X-70200267-C-A		not specified	Uncertain significance (Sep 01, 2024)
X-70200269-T-G		not specified	Uncertain significance (Jul 14, 2023)
X-70200270-G-A		not specified	Uncertain significance (Aug 20, 2023)
X-70200321-C-G		not specified	Likely benign (Feb 06, 2024)
X-70200343-A-G		not specified	Uncertain significance (Dec 10, 2024)
X-70200372-C-T		DGAT2L6-related disorder	Likely benign (May 12, 2022)
X-70200373-G-A		not specified	Uncertain significance (Dec 05, 2022)
X-70200452-G-A		not specified	Uncertain significance (Mar 28, 2024)
X-70200462-G-A			Uncertain significance (Oct 01, 2016)
X-70201950-A-G		not specified	Uncertain significance (Mar 11, 2024)
X-70201998-G-A		not specified	Likely benign (Feb 13, 2024)
X-70202004-G-A		not specified	Uncertain significance (Apr 09, 2024)
X-70202048-A-G		not specified	Uncertain significance (Nov 10, 2022)
X-70204334-G-A		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DGAT2L6	protein_coding	protein_coding	ENST00000333026	7	28063

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.53e-11	0.0328	125643	38	65	125746	0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.486	136	121	1.12	0.00000918	2175
Missense in Polyphen		44	46.312	0.95007		871
Synonymous	-0.738	51	44.7	1.14	0.00000324	675
Loss of Function	-0.332	15	13.7	1.10	0.00000123	192

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000621	0.000539
Ashkenazi Jewish	0.00	0.00
East Asian	0.00174	0.00131
Finnish	0.000190	0.000139
European (Non-Finnish)	0.000627	0.000448
Middle Eastern	0.00174	0.00131
South Asian	0.000474	0.000294
Other	0.000897	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable acyltransferase uses fatty acyl-CoA as substrate (By similarity). Has no wax synthase activity to produce wax esters. {ECO:0000250}.
• Pathway: Metabolism of lipids;Acyl chain remodeling of DAG and TAG;Metabolism;Glycerophospholipid biosynthesis;Phospholipid metabolism (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.543
• rvis_EVS: -0.65
• rvis_percentile_EVS: 16.36

Haploinsufficiency Scores

• pHI: 0.205
• hipred: N
• hipred_score: 0.123
• ghis: 0.436

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.000202

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dgat2l6

Gene ontology

• Biological process: acylglycerol acyl-chain remodeling
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: diacylglycerol O-acyltransferase activity