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. [provided by RefSeq, Feb 2015] See more...

Aliases for DGAT2L6 Gene

Aliases for DGAT2L6 Gene

  • Diacylglycerol O-Acyltransferase 2 Like 6 2 3 5
  • DC3 2 3 4
  • Diacylglycerol O-Acyltransferase 2-Like Protein 6 3 4
  • Diacylglycerol O-Acyltransferase Candidate 3 3 4
  • EC 2.3.1.- 4
  • FLJ25989 2
  • DGAT2L6 5
  • HDC3 4

External Ids for DGAT2L6 Gene

Previous GeneCards Identifiers for DGAT2L6 Gene

  • GC0XP069181
  • GC0XP069314
  • GC0XP069397
  • GC0XP063218

Summaries for DGAT2L6 Gene

Entrez Gene Summary for DGAT2L6 Gene

  • 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. [provided by RefSeq, Feb 2015]

GeneCards Summary for DGAT2L6 Gene

DGAT2L6 (Diacylglycerol O-Acyltransferase 2 Like 6) is a Protein Coding gene. Diseases associated with DGAT2L6 include Benign Epilepsy With Centrotemporal Spikes and Cornelia De Lange Syndrome. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups. An important paralog of this gene is AWAT1.

UniProtKB/Swiss-Prot Summary for DGAT2L6 Gene

  • 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-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DGAT2L6 Gene

Genomics for DGAT2L6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DGAT2L6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ070176 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 250.7 -0.3 -312 1.1 ZNF316 EBF1 NFE2 MAFG IKZF1 MAFF BACH1 DPF2 IKZF2 POLR2A DGAT2L6 piR-42694-180 IGBP1
GH0XJ070132 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.3 -43.6 -43582 3.4 ZNF654 MYC ZNF580 POLR2A ZSCAN16 NFIC ZIC2 CHD4 ZBTB10 YY1 IGBP1 NONHSAG054690.2 HSALNG0138407 IGBP1-AS2 DGAT2L6
GH0XJ070170 Enhancer 0.8 Ensembl ENCODE 0.7 -4.2 -4165 4.6 JUND IRF4 HDAC2 BATF MAFK NRF1 JUNB KDM1A FOS GFI1B piR-42694-180 DGAT2L6 IGBP1-AS1 IGBP1
GH0XJ070166 Enhancer 0.7 ENCODE 0.4 -9.3 -9270 2.7 ZNF600 JUND ZNF592 ELF1 FOSL2 TAL1 FOXM1 EGR1 ZNF143 TOE1 IGBP1-AS1 DGAT2L6 piR-42694-180 IGBP1
GH0XJ070219 Enhancer 1 Ensembl ENCODE 0.3 +42.9 42856 1.2 NCOR1 ZNF10 NFIC ZNF217 HES1 ZNF148 FOXA2 CTBP1 CUX1 TAL1 HSALNG0138416 RN7SL581P lnc-P2RY4-2 MED12 KIF4A piR-48553-359 AWAT1 DGAT2L6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DGAT2L6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DGAT2L6

Top Transcription factor binding sites by QIAGEN in the DGAT2L6 gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • C/EBPalpha
  • C/EBPbeta
  • FosB
  • Fra-1
  • JunB
  • JunD
  • SRY

Genomic Locations for DGAT2L6 Gene

Latest Assembly
chrX:70,177,483-70,205,704
(GRCh38/hg38)
Size:
28,222 bases
Orientation:
Plus strand

Previous Assembly
chrX:69,397,333-69,425,554
(GRCh37/hg19 by Entrez Gene)
Size:
28,222 bases
Orientation:
Plus strand

chrX:69,397,333-69,425,395
(GRCh37/hg19 by Ensembl)
Size:
28,063 bases
Orientation:
Plus strand

Genomic View for DGAT2L6 Gene

Genes around DGAT2L6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DGAT2L6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DGAT2L6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DGAT2L6 Gene

Proteins for DGAT2L6 Gene

  • Protein details for DGAT2L6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZPD8-DG2L6_HUMAN
    Recommended name:
    Diacylglycerol O-acyltransferase 2-like protein 6
    Protein Accession:
    Q6ZPD8
    Secondary Accessions:
    • Q6IEE2

    Protein attributes for DGAT2L6 Gene

    Size:
    337 amino acids
    Molecular mass:
    38593 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DGAT2L6 Gene

Post-translational modifications for DGAT2L6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DGAT2L6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DGAT2L6 Gene

Domains & Families for DGAT2L6 Gene

Gene Families for DGAT2L6 Gene

Protein Domains for DGAT2L6 Gene

InterPro:

Suggested Antigen Peptide Sequences for DGAT2L6 Gene

GenScript: Design optimal peptide antigens:
  • Diacylglycerol O-acyltransferase candidate 3 (DG2L6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZPD8

UniProtKB/Swiss-Prot:

DG2L6_HUMAN :
  • Belongs to the diacylglycerol acyltransferase family.
Family:
  • Belongs to the diacylglycerol acyltransferase family.
genes like me logo Genes that share domains with DGAT2L6: view

Function for DGAT2L6 Gene

Molecular function for DGAT2L6 Gene

UniProtKB/Swiss-Prot 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-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG) (PubMed:28420705).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1,2-di-(9Z-octadecenoyl)-sn-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38219, ChEBI:CHEBI:52333, ChEBI:CHEBI:53753, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387; Evidence={ECO:0000269|PubMed:15671038};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-O-(9Z-octadecenyl)-glycerol = 1-O-(9Z-octadecenyl)-mono-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:55340, ChEBI:CHEBI:34116, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:138734; Evidence={ECO:0000269|PubMed:28420705};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-glycerol = 1,2-di-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:37915, ChEBI:CHEBI:52323, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75342; Evidence={ECO:0000269|PubMed:28420705};.

Enzyme Numbers (IUBMB) for DGAT2L6 Gene

Phenotypes From GWAS Catalog for DGAT2L6 Gene

Gene Ontology (GO) - Molecular Function for DGAT2L6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008374 O-acyltransferase activity IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
genes like me logo Genes that share ontologies with DGAT2L6: view
genes like me logo Genes that share phenotypes with DGAT2L6: view

Animal Models for DGAT2L6 Gene

MGI Knock Outs for DGAT2L6:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGAT2L6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DGAT2L6 Gene

Localization for DGAT2L6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DGAT2L6 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DGAT2L6 gene
Compartment Confidence
endoplasmic reticulum 4
lysosome 1
peroxisome 0
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for DGAT2L6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DGAT2L6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DGAT2L6 Gene

Pathways & Interactions for DGAT2L6 Gene

genes like me logo Genes that share pathways with DGAT2L6: view

Gene Ontology (GO) - Biological Process for DGAT2L6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IBA 21873635
GO:0006640 monoacylglycerol biosynthetic process IDA 28420705
GO:0036155 acylglycerol acyl-chain remodeling TAS --
genes like me logo Genes that share ontologies with DGAT2L6: view

No data available for SIGNOR curated interactions for DGAT2L6 Gene

Drugs & Compounds for DGAT2L6 Gene

(2) Drugs for DGAT2L6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0

(35) Additional Compounds for DGAT2L6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with DGAT2L6: view

Transcripts for DGAT2L6 Gene

mRNA/cDNA for DGAT2L6 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DGAT2L6

Alternative Splicing Database (ASD) splice patterns (SP) for DGAT2L6 Gene

No ASD Table

Relevant External Links for DGAT2L6 Gene

GeneLoc Exon Structure for
DGAT2L6

Expression for DGAT2L6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DGAT2L6 Gene

mRNA differential expression in normal tissues according to GTEx for DGAT2L6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x33.3) and Skin - Sun Exposed (Lower leg) (x14.6).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DGAT2L6

SOURCE GeneReport for Unigene cluster for DGAT2L6 Gene:

Hs.454355

mRNA Expression by UniProt/SwissProt for DGAT2L6 Gene:

Q6ZPD8-DG2L6_HUMAN
Tissue specificity: Expressed in all tissues tested except pancreas.
genes like me logo Genes that share expression patterns with DGAT2L6: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DGAT2L6 Gene

Orthologs for DGAT2L6 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DGAT2L6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DGAT2L6 29 30
  • 99.4 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DGAT2L6 29 30
  • 88 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DGAT2L6 29 30
  • 86.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dgat2l6 29
  • 80.65 (n)
Mouse
(Mus musculus)
Mammalia Dgat2l6 29 16 30
  • 79.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DGAT2L6 30
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 43 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG1942 30
  • 35 (a)
ManyToMany
CG1941 30
  • 35 (a)
ManyToMany
CG1946 30
  • 34 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea Y53G8B.2 30
  • 40 (a)
ManyToMany
K07B1.4 30
  • 40 (a)
ManyToMany
dgtr-1 30
  • 35 (a)
ManyToMany
dgat-2 30
  • 34 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DGA1 30
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for DGAT2L6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Zebrafish (Danio rerio)

Evolution for DGAT2L6 Gene

ENSEMBL:
Gene Tree for DGAT2L6 (if available)
TreeFam:
Gene Tree for DGAT2L6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DGAT2L6: view image
Alliance of Genome Resources:
Additional Orthologs for DGAT2L6

Paralogs for DGAT2L6 Gene

Paralogs for DGAT2L6 Gene

(6) SIMAP similar genes for DGAT2L6 Gene using alignment to 1 proteins:

  • DG2L6_HUMAN
genes like me logo Genes that share paralogs with DGAT2L6: view

Variants for DGAT2L6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DGAT2L6 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs112865288 Benign: not provided 70,199,890(+) C/T
NM_198512.3(DGAT2L6):c.267+8C>T
INTRON
rs1602694301 Uncertain Significance: not provided 70,200,462(+) G/A
NM_198512.3(DGAT2L6):c.472+3G>A
INTRON
rs193921067 Uncertain Significance: Malignant tumor of prostate 70,204,426(+) C/A
NM_198512.3(DGAT2L6):c.769C>A (p.Leu257Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DGAT2L6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DGAT2L6 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv3379628 CNV insertion 20981092
nsv519741 CNV gain 19592680
nsv520416 CNV loss 19592680

Variation tolerance for DGAT2L6 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DGAT2L6 Gene

Human Gene Mutation Database (HGMD)
DGAT2L6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DGAT2L6
Leiden Open Variation Database (LOVD)
DGAT2L6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DGAT2L6 Gene

Disorders for DGAT2L6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DGAT2L6 Gene - From: COP

Disorder Aliases PubMed IDs
benign epilepsy with centrotemporal spikes
  • bcects
cornelia de lange syndrome
  • brachmann de lange syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DGAT2L6

genes like me logo Genes that share disorders with DGAT2L6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DGAT2L6 Gene

Publications for DGAT2L6 Gene

  1. Identification of two novel human acyl-CoA wax alcohol acyltransferases: members of the diacylglycerol acyltransferase 2 (DGAT2) gene superfamily. (PMID: 15671038) Turkish AR … Sturley SL (The Journal of biological chemistry 2005) 2 3 4
  2. Synthesis of neutral ether lipid monoalkyl-diacylglycerol by lipid acyltransferases. (PMID: 28420705) Ma Z … Cheng D (Journal of lipid research 2017) 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Genomic organization of the DGAT2/MOGAT gene family in cattle (Bos taurus) and other mammals. (PMID: 14970677) Winter A … Fries R (Cytogenetic and genome research 2003) 3 4

Products for DGAT2L6 Gene

Sources for DGAT2L6 Gene