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UniProtKB - Q96PD7 (DGAT2_HUMAN)

Entry version 152 (25 May 2022)
Sequence version 2 (01 Mar 2002)
Previous versions | rss
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Protein

Diacylglycerol O-acyltransferase 2

Gene

DGAT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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 (PubMed:27184406).

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) (By similarity).

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

By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by niacin.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: triacylglycerol biosynthesis

This protein is involved in the pathway triacylglycerol biosynthesis, which is part of Glycerolipid metabolism.1 Publication
View all proteins of this organism that are known to be involved in the pathway triacylglycerol biosynthesis and in Glycerolipid metabolism.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processGlycerol metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.1.20, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96PD7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1482883, Acyl chain remodeling of DAG and TAG
R-HSA-75109, Triglyceride biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q96PD7

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q96PD7

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00282

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000304

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Diacylglycerol O-acyltransferase 2Curated (EC:2.3.1.202 Publications)
Alternative name(s):
Acyl-CoA retinol O-fatty-acyltransferase (EC:2.3.1.761 Publication)
Short name:
ARAT
Short name:
Retinol O-fatty-acyltransferase
Diglyceride acyltransferase 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DGAT2Imported
ORF Names:HMFN1045, UNQ738/PRO1433
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:16940, DGAT2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606983, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96PD7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000062282

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 69CytoplasmicSequence analysisAdd BLAST69
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei70 – 88HelicalSequence analysisAdd BLAST19
Topological domaini89 – 92LumenalSequence analysis4
Transmembranei93 – 112HelicalSequence analysisAdd BLAST20
Topological domaini113 – 388CytoplasmicSequence analysisAdd BLAST276

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Lipid droplet, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		84649

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		DGAT2

MalaCards human disease database

More...MalaCardsi		DGAT2

Open Targets

More...OpenTargetsi		ENSG00000062282

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		487814, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27304

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96PD7, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5853

Drug and drug target database

More...DrugBanki		DB13961, Fish oil
DB08949, Inositol nicotinate
DB09568, Omega-3-carboxylic acids

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DGAT2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74732654

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002490451 – 388Diacylglycerol O-acyltransferase 2Add BLAST388

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96PD7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96PD7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96PD7

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96PD7

PeptideAtlas

More...PeptideAtlasi		Q96PD7

PRoteomics IDEntifications database

More...PRIDEi		Q96PD7

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96PD7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96PD7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammary gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000062282, Expressed in upper arm skin and 178 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96PD7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96PD7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000062282, Group enriched (adipose tissue, breast, liver, skin)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms multimeric complexes consisting of several DGAT2 subunits (By similarity).

Interacts with SLC27A1 and this interaction is enhanced in the presence of ZFYVE1 (PubMed:30970241).

By similarity1 Publication

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124172, 6 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96PD7

Protein interaction database and analysis system

More...IntActi		Q96PD7, 2 interactors

Molecular INTeraction database

More...MINTi		Q96PD7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000228027

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q96PD7

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96PD7, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q96PD7

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni16 – 40DisorderedSequence analysisAdd BLAST25

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the diacylglycerol acyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0831, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT01030000234582

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023995_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96PD7

Identification of Orthologs from Complete Genome Data

More...OMAi		STMFYVP

Database of Orthologous Groups

More...OrthoDBi		1347007at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96PD7

TreeFam database of animal gene trees

More...TreeFami		TF314707

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007130, DAGAT

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03982, DAGAT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96PD7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKTLIAAYSG VLRGERQAEA DRSQRSHGGP ALSREGSGRW GTGSSILSAL 
        60         70         80         90        100
QDLFSVTWLN RSKVEKQLQV ISVLQWVLSF LVLGVACSAI LMYIFCTDCW 
       110        120        130        140        150
LIAVLYFTWL VFDWNTPKKG GRRSQWVRNW AVWRYFRDYF PIQLVKTHNL 
       160        170        180        190        200
LTTRNYIFGY HPHGIMGLGA FCNFSTEATE VSKKFPGIRP YLATLAGNFR 
       210        220        230        240        250
MPVLREYLMS GGICPVSRDT IDYLLSKNGS GNAIIIVVGG AAESLSSMPG 
       260        270        280        290        300
KNAVTLRNRK GFVKLALRHG ADLVPIYSFG ENEVYKQVIF EEGSWGRWVQ 
       310        320        330        340        350
KKFQKYIGFA PCIFHGRGLF SSDTWGLVPY SKPITTVVGE PITIPKLEHP 
       360        370        380 
TQQDIDLYHT MYMEALVKLF DKHKTKFGLP ETEVLEVN
Length:388
Mass (Da):43,831
Last modified:March 1, 2002 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i39EE7783A3F06593
GO
Isoform 2 (identifier: Q96PD7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     41-83: Missing.

Show »
Length:345
Mass (Da):39,044
Checksum:iCDDCB976A9D4E539
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
S4R3S3S4R3S3_HUMAN
Diacylglycerol O-acyltransferase 2
DGAT2
295Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R383S4R383_HUMAN
Diacylglycerol O-acyltransferase 2
DGAT2
160Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R3Z3S4R3Z3_HUMAN
Diacylglycerol O-acyltransferase 2
DGAT2
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
S4R449S4R449_HUMAN
Diacylglycerol O-acyltransferase 2
DGAT2
113Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAD38635 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAD38961 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti295W → C in AAV35727 (Ref. 7) Curated1
Sequence conflicti304Q → H in AAV35727 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_077236223Y → H Found in patients with Charcot-Marie-Tooth disease; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs869025595EnsemblClinVar.1
Natural variantiVAR_033864317R → G. Corresponds to variant dbSNP:rs34421064Ensembl.1
Natural variantiVAR_033865361M → I. Corresponds to variant dbSNP:rs34113941Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_02035641 – 83Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF384161 mRNA Translation: AAK84176.2
AB048286 mRNA Translation: BAB40641.2
AY358532 mRNA Translation: AAQ88896.1
AL834287 mRNA Translation: CAD38961.1 Different initiation.
CR749377 mRNA Translation: CAH18230.1
AP001922 Genomic DNA No translation available.
BC015234 mRNA Translation: AAH15234.1
AY780647 mRNA Translation: AAV35727.1
AB073384 mRNA Translation: BAD38635.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31642.1 [Q96PD7-1]
CCDS58162.1 [Q96PD7-2]

NCBI Reference Sequences

More...RefSeqi		NP_001240820.1, NM_001253891.1 [Q96PD7-2]
NP_115953.2, NM_032564.4 [Q96PD7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000228027.12; ENSP00000228027.6; ENSG00000062282.15
ENST00000376262.7; ENSP00000365438.3; ENSG00000062282.15 [Q96PD7-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84649

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84649

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000228027.12; ENSP00000228027.6; NM_032564.5; NP_115953.2

UCSC genome browser

More...UCSCi		uc001oxa.4, human [Q96PD7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF384161 mRNA Translation: AAK84176.2
AB048286 mRNA Translation: BAB40641.2
AY358532 mRNA Translation: AAQ88896.1
AL834287 mRNA Translation: CAD38961.1 Different initiation.
CR749377 mRNA Translation: CAH18230.1
AP001922 Genomic DNA No translation available.
BC015234 mRNA Translation: AAH15234.1
AY780647 mRNA Translation: AAV35727.1
AB073384 mRNA Translation: BAD38635.1 Different initiation.
CCDSiCCDS31642.1 [Q96PD7-1]
CCDS58162.1 [Q96PD7-2]
RefSeqiNP_001240820.1, NM_001253891.1 [Q96PD7-2]
NP_115953.2, NM_032564.4 [Q96PD7-1]

3D structure databases

AlphaFoldDBiQ96PD7
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi124172, 6 interactors
CORUMiQ96PD7
IntActiQ96PD7, 2 interactors
MINTiQ96PD7
STRINGi9606.ENSP00000228027

Chemistry databases

BindingDBiQ96PD7
ChEMBLiCHEMBL5853
DrugBankiDB13961, Fish oil
DB08949, Inositol nicotinate
DB09568, Omega-3-carboxylic acids
SwissLipidsiSLP:000000304

PTM databases

iPTMnetiQ96PD7
PhosphoSitePlusiQ96PD7

Genetic variation databases

BioMutaiDGAT2
DMDMi74732654

Proteomic databases

EPDiQ96PD7
jPOSTiQ96PD7
MassIVEiQ96PD7
PaxDbiQ96PD7
PeptideAtlasiQ96PD7
PRIDEiQ96PD7

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1632, 312 antibodies from 35 providers

The DNASU plasmid repository

More...DNASUi		84649

Genome annotation databases

EnsembliENST00000228027.12; ENSP00000228027.6; ENSG00000062282.15
ENST00000376262.7; ENSP00000365438.3; ENSG00000062282.15 [Q96PD7-2]
GeneIDi84649
KEGGihsa:84649
MANE-SelectiENST00000228027.12; ENSP00000228027.6; NM_032564.5; NP_115953.2
UCSCiuc001oxa.4, human [Q96PD7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84649
DisGeNETi84649

GeneCards: human genes, protein and diseases

More...GeneCardsi		DGAT2
GeneReviewsiDGAT2
HGNCiHGNC:16940, DGAT2
HPAiENSG00000062282, Group enriched (adipose tissue, breast, liver, skin)
MalaCardsiDGAT2
MIMi606983, gene
neXtProtiNX_Q96PD7
OpenTargetsiENSG00000062282
Orphaneti487814, Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
PharmGKBiPA27304
VEuPathDBiHostDB:ENSG00000062282

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0831, Eukaryota
GeneTreeiENSGT01030000234582
HOGENOMiCLU_023995_0_1_1
InParanoidiQ96PD7
OMAiSTMFYVP
OrthoDBi1347007at2759
PhylomeDBiQ96PD7
TreeFamiTF314707

Enzyme and pathway databases

UniPathwayiUPA00282
BRENDAi2.3.1.20, 2681
PathwayCommonsiQ96PD7
ReactomeiR-HSA-1482883, Acyl chain remodeling of DAG and TAG
R-HSA-75109, Triglyceride biosynthesis
SABIO-RKiQ96PD7
SignaLinkiQ96PD7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84649, 15 hits in 1081 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DGAT2, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		84649
PharosiQ96PD7, Tchem

Protein Ontology

More...PROi		PR:Q96PD7
RNActiQ96PD7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000062282, Expressed in upper arm skin and 178 other tissues
ExpressionAtlasiQ96PD7, baseline and differential
GenevisibleiQ96PD7, HS

Family and domain databases

InterProiView protein in InterPro
IPR007130, DAGAT
PfamiView protein in Pfam
PF03982, DAGAT, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDGAT2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96PD7
Secondary accession number(s): A6ND76
, Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q9BYE5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: March 1, 2002
Last modified: May 25, 2022
This is version 152 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families
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