DGAT2L6 (diacylglycerol O-acyltransferase 2 like 6)

Gene

• Entrez ID: 347516
• Gene name: Diacylglycerol O-acyltransferase 2 like 6
• Gene symbol: DGAT2L6
• Synonyms (NCBI Gene): DC3
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: This gene is a member of the diacylglycerol acyltransferase 2 family. The encoded protein is a putative acyltransferase and is most likely involved in the synthesis of di- or triacylglycerol, however its substrate specificity is currently unknown. [provid

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2211811	hsa-miR-4652-3p	CLIP-seq
MIRT2211812	hsa-miR-4659a-3p	CLIP-seq
MIRT2211813	hsa-miR-4659b-3p	CLIP-seq
MIRT2211814	hsa-miR-4778-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004144	Function	Diacylglycerol O-acyltransferase activity	EXP	15671038
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006640	Process	Monoacylglycerol biosynthetic process	IDA	28420705
GO:0008374	Function	O-acyltransferase activity	IBA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0036155	Process	Acylglycerol acyl-chain remodeling	TAS

Other IDs

• MIM: 300926
• HGNC: 23250
• e!Ensembl: ENSG00000184210

Protein

• UniProt ID: Q6ZPD8
• Protein name: Diacylglycerol O-acyltransferase 2-like protein 6 (EC 2.3.1.-) (Diacylglycerol O-acyltransferase candidate 3) (hDC3)
• Protein function: Diglyceride acyltransferase that uses fatty acyl-CoA as substrate (PubMed:15671038). Particularly active with oleate as a substrate (PubMed:15671038). Has no wax synthase activity to produce wax esters (PubMed:15671038). Able to use 1-monoalkylg
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03982	DAGAT	38 → 337	Diacylglycerol acyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested except pancreas. {ECO:0000269|PubMed:15671038}.
• Sequence:

  MAFFSRLNLQEGLQTFFVLQWIPVYIFLGAIPILLIPYFLLFSKFWPLAVLSLAWLTYDW
  NTHSQGGRRSAWVRNWTLWKYFRNYFPVKLVKTHDLSPKHNYIIANHPHGILSFGVFINF
  ATEATGIARIFPSITPFVGTLERIFWIPIVREYVMSMGVCPVSSSALKYLLTQKGSGNAV
  VIVVGGAAEALLCRPGASTLFLKQRKGFVKMALQTGAYLVPSYSFGENEVFNQETFPEGT
  WLRLFQKTFQDTFKKILGLNFCTFHGRGFTRGSWGFLPFNRPITTVVGEPLPIPRIKRPN
  QKTVDKYHALYISALRKLFDQHKVEYGLPETQELTIT

• Sequence length: 337

Pathways

Reactome:

Acyl chain remodeling of DAG and TAG

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
DGAT2L6-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	38170155	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	8624377	Associate	★☆☆☆☆ Found in Text Mining only