Reviewed, UniProtKB/Swiss-Prot Q96PD7 (DGAT2_HUMAN)

Names and origin

Protein names

Recommended name:
    Diacylglycerol O-acyltransferase 2
    EC=2.3.1.20
Alternative name(s):
    Diglyceride acyltransferase 2

Gene names

Name:	DGAT2
ORF Names:	HMFN1045, UNQ738/PRO1433

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	388 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

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 By similarity.
Catalytic activity	Acyl-CoA + 1,2-diacylglycerol = CoA + triacylglycerol.
Enzyme regulation	Inhibited by niacin By similarity.
Pathway	Glycerolipid metabolism; triacylglycerol biosynthesis.
Subcellular location	Endoplasmic reticulum membrane; Multi-pass membrane protein. Ref.2
Tissue specificity	Predominantly expressed in liver and white adipose tissue. Expressed at lower level in mammaray gland, testis and peripheral blood leukocytes. Expressed in sebaceous glands of normal skin but decreased psoriatic skin. Ref.2 Ref.1
Sequence similarities	Belongs to the diacylglycerol acyltransferase family.

Ontologies

Keywords
Biological process	Glycerol metabolism Lipid metabolism Lipid synthesis
Cellular component	Endoplasmic reticulum Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Molecular function	Acyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	glycerol metabolic process Inferred from electronic annotation. Source: UniProtKB-KW triglyceride biosynthetic process Ref.1 Inferred from direct assay. Source: UniProtKB
Cellular component	endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-KW integral to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell membrane fraction Ref.1 Inferred from direct assay. Source: UniProtKB
Molecular function	diacylglycerol O-acyltransferase activity Ref.1 Inferred from direct assay. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96PD7-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96PD7-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 388	388	Diacylglycerol O-acyltransferase 2		PRO_0000249045
Regions
	Transmembrane	76 – 96	21	Potential
	Transmembrane	98 – 117	20	Potential
Amino acid modifications
	Glycosylation	60	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	41 – 83	43	Missing in isoform 2.		VSP_020356
	Natural variant	317	1	R → G: dbSNP rs34421064.		VAR_033864
	Natural variant	361	1	M → I: dbSNP rs34113941.		VAR_033865
Experimental info
	Sequence conflict	295	1	W → C in AAV35727. Ref.7
	Sequence conflict	304	1	Q → H in AAV35727. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2002. Version 2. Checksum: 39EE7783A3F06593	FASTA	388	43,831
	10 20 30 40 50 60 MKTLIAAYSG VLRGERQAEA DRSQRSHGGP ALSREGSGRW GTGSSILSAL QDLFSVTWLN 70 80 90 100 110 120 RSKVEKQLQV ISVLQWVLSF LVLGVACSAI LMYIFCTDCW LIAVLYFTWL VFDWNTPKKG 130 140 150 160 170 180 GRRSQWVRNW AVWRYFRDYF PIQLVKTHNL LTTRNYIFGY HPHGIMGLGA FCNFSTEATE 190 200 210 220 230 240 VSKKFPGIRP YLATLAGNFR MPVLREYLMS GGICPVSRDT IDYLLSKNGS GNAIIIVVGG 250 260 270 280 290 300 AAESLSSMPG KNAVTLRNRK GFVKLALRHG ADLVPIYSFG ENEVYKQVIF EEGSWGRWVQ 310 320 330 340 350 360 KKFQKYIGFA PCIFHGRGLF SSDTWGLVPY SKPITTVVGE PITIPKLEHP TQQDIDLYHT 370 380 MYMEALVKLF DKHKTKFGLP ETEVLEVN
	Isoform 2. Checksum: CDDCB976A9D4E539	FASTA	345	39,044
	10 20 30 40 50 60 MKTLIAAYSG VLRGERQAEA DRSQRSHGGP ALSREGSGRW GVACSAILMY IFCTDCWLIA 70 80 90 100 110 120 VLYFTWLVFD WNTPKKGGRR SQWVRNWAVW RYFRDYFPIQ LVKTHNLLTT RNYIFGYHPH 130 140 150 160 170 180 GIMGLGAFCN FSTEATEVSK KFPGIRPYLA TLAGNFRMPV LREYLMSGGI CPVSRDTIDY 190 200 210 220 230 240 LLSKNGSGNA IIIVVGGAAE SLSSMPGKNA VTLRNRKGFV KLALRHGADL VPIYSFGENE 250 260 270 280 290 300 VYKQVIFEEG SWGRWVQKKF QKYIGFAPCI FHGRGLFSSD TWGLVPYSKP ITTVVGEPIT 310 320 330 340 IPKLEHPTQQ DIDLYHTMYM EALVKLFDKH KTKFGLPETE VLEVN

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members." Cases S., Stone S.J., Zhou P., Yen C.-L.E., Tow B., Lardizabal K.D., Voelker T., Farese R.V. Jr. J. Biol. Chem. 276:38870-38876(2001) [PubMed: 11481335] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY. Tissue: Testis.
[2]	"A novel diacylglycerol acyltransferase (DGAT2) is decreased in human psoriatic skin and increased in diabetic mice." Wakimoto K., Chiba H., Michibata H., Seishima M., Kawasaki S., Okubo K., Mitsui H., Torii H., Imai Y. Biochem. Biophys. Res. Commun. 310:296-302(2003) [PubMed: 14521909] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[3]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lymph node and Uterus.
[5]	"Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y. Nature 440:497-500(2006) [PubMed: 16554811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Pancreas.
[7]	"Evaluation of gene structure of human DGAT2 gene." Reichwald K., Petz U., Platzer M. Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4-341 (ISOFORM 2). Tissue: Adipocyte.
[8]	"Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas." Yamada S., Ohira M., Horie H., Ando K., Takayasu H., Suzuki Y., Sugano S., Hirata T., Goto T., Matsunaga T., Hiyama E., Hayashi Y., Ando H., Suita S., Kaneko M., Sasaki F., Hashizume K., Ohnuma N., Nakagawara A. Oncogene 23:5901-5911(2004) [PubMed: 15221005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 66-388. Tissue: Hepatoblastoma.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00176376. IPI00478401.
RefSeq	NP_115953.2.
UniGene	Hs.334305
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q96PD7.
Proteomic databases
PRIDE	Q96PD7.
Genome annotation databases
Ensembl	ENST00000228027; ENSP00000228027; ENSG00000062282; Homo sapiens. [Genome view] ENST00000376262; ENSP00000365438; ENSG00000062282; Homo sapiens. [Genome view]
GeneID	84649.
KEGG	hsa:84649.
UCSC	uc001oxa.2. human. uc001oxb.2. human.
Organism-specific databases
CTD	84649.
GeneCards	GC11P075157.
H-InvDB	HIX0009955. HIX0056237.
HGNC	HGNC:16940. DGAT2.
HPA	HPA013351.
MIM	606983. gene.
PharmGKB	PA27304.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96PD7.
OMA	HGRGFFS.
Enzyme and pathway databases
BRENDA	2.3.1.20. 247.
Gene expression databases
ArrayExpress	Q96PD7.
Bgee	Q96PD7.
CleanEx	HS_DGAT2.
Genevestigator	Q96PD7.
GermOnline	ENSG00000062282. Homo sapiens.
Family and domain databases
InterPro	IPR007130. DAGAT. [Graphical view]
PANTHER	PTHR12317. DAGAT. 1 hit.
Pfam	PF03982. DAGAT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	74602.
SOURCE	Search...

Entry information

Entry name

DGAT2_HUMAN

Accession

Primary (citable) accession number: Q96PD7
Secondary accession number(s): A6ND76 , Q5U810, Q68CL3, Q68DJ0, Q8NDB7, Q96BS0, Q9BYE5

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 5, 2006
Last sequence update:	March 1, 2002
Last modified:	November 3, 2009
This is version 58 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.