Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10555
Gene name	1-acylglycerol-3-phosphate O-acyltransferase 2
Gene symbol	AGPAT2
Synonyms (NCBI Gene)	1-AGPAT2BSCLBSCL1LPAABLPAAT-betaLPLAT2
Chromosome	9
Chromosome location	9q34.3
Summary	This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase family. The protein is located within the endoplasmic reticulum membrane and converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosyn

Show/Hide all (27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894093	G>A	Pathogenic	Coding sequence variant, stop gained
rs104894100	A>G	Pathogenic	Coding sequence variant, missense variant
rs116807569	T>C	Pathogenic	Splice acceptor variant
rs121908925	T>A	Pathogenic	Coding sequence variant, stop gained
rs121908926	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, intron variant, stop gained
rs200656731	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs387906355	->A	Pathogenic	Frameshift variant, coding sequence variant
rs387906356	AGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs606231168	C>G	Pathogenic	Splice acceptor variant, intron variant
rs746809573	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs748157664	C>A,T	Likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs764260414	C>T	Pathogenic	Coding sequence variant, missense variant
rs797045222	C>T	Pathogenic	Coding sequence variant, missense variant
rs886043265	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs933422777	C>T	Pathogenic	Splice donor variant
rs1057517649	T>C	Pathogenic	Splice acceptor variant
rs1057517650	C>T	Pathogenic	Splice donor variant
rs1057517651	C>T	Pathogenic	Coding sequence variant, stop gained
rs1057517653	C>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057517654	A>C	Pathogenic	Splice donor variant
rs1057517655	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057517656	TCCTCATGG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057518714	C>T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1131691791	T>G	Pathogenic	Splice acceptor variant
rs1564290079	GGAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1564290914	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1588263957	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037533	hsa-miR-744-5p	CLASH	23622248
MIRT437826	hsa-miR-24-3p	GFP reporter assay	23578572
MIRT772278	hsa-miR-1289	CLIP-seq
MIRT772279	hsa-miR-1913	CLIP-seq
MIRT772280	hsa-miR-2115	CLIP-seq
MIRT772281	hsa-miR-324-3p	CLIP-seq
MIRT772282	hsa-miR-4290	CLIP-seq
MIRT772283	hsa-miR-4641	CLIP-seq
MIRT772284	hsa-miR-4691-5p	CLIP-seq
MIRT772285	hsa-miR-671-5p	CLIP-seq
MIRT772286	hsa-miR-765	CLIP-seq
MIRT772287	hsa-miR-766	CLIP-seq
MIRT772288	hsa-miR-1225-3p	CLIP-seq
MIRT772289	hsa-miR-1233	CLIP-seq
MIRT772290	hsa-miR-3943	CLIP-seq
MIRT772291	hsa-miR-4267	CLIP-seq
MIRT772292	hsa-miR-4313	CLIP-seq
MIRT772293	hsa-miR-4663	CLIP-seq
MIRT772294	hsa-miR-4728-5p	CLIP-seq
MIRT1545185	hsa-miR-4645-5p	CLIP-seq
MIRT1545186	hsa-miR-4673	CLIP-seq
MIRT1927886	hsa-miR-15a	CLIP-seq
MIRT1927887	hsa-miR-15b	CLIP-seq
MIRT1927888	hsa-miR-16	CLIP-seq
MIRT1927889	hsa-miR-1915	CLIP-seq
MIRT1927890	hsa-miR-195	CLIP-seq
MIRT1927891	hsa-miR-2114	CLIP-seq
MIRT1927892	hsa-miR-214	CLIP-seq
MIRT1927893	hsa-miR-3136-3p	CLIP-seq
MIRT1927894	hsa-miR-3178	CLIP-seq
MIRT1927895	hsa-miR-3192	CLIP-seq
MIRT1927896	hsa-miR-3199	CLIP-seq
MIRT1927897	hsa-miR-339-5p	CLIP-seq
MIRT1927898	hsa-miR-3619-5p	CLIP-seq
MIRT1927899	hsa-miR-3940-3p	CLIP-seq
MIRT1927900	hsa-miR-424	CLIP-seq
MIRT1927901	hsa-miR-4257	CLIP-seq
MIRT772291	hsa-miR-4267	CLIP-seq
MIRT772282	hsa-miR-4290	CLIP-seq
MIRT1927902	hsa-miR-4314	CLIP-seq
MIRT1927903	hsa-miR-4532	CLIP-seq
MIRT1927904	hsa-miR-4634	CLIP-seq
MIRT1927905	hsa-miR-4646-5p	CLIP-seq
MIRT1927906	hsa-miR-4690-5p	CLIP-seq
MIRT1927907	hsa-miR-4722-5p	CLIP-seq
MIRT772294	hsa-miR-4728-5p	CLIP-seq
MIRT1927908	hsa-miR-497	CLIP-seq
MIRT1927909	hsa-miR-627	CLIP-seq
MIRT1927910	hsa-miR-663b	CLIP-seq
MIRT1927911	hsa-miR-761	CLIP-seq
MIRT1927912	hsa-miR-924	CLIP-seq
MIRT2168738	hsa-miR-1972	CLIP-seq
MIRT1545185	hsa-miR-4645-5p	CLIP-seq
MIRT1545186	hsa-miR-4673	CLIP-seq
MIRT2168739	hsa-miR-4797-5p	CLIP-seq
MIRT1927912	hsa-miR-924	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	IMP	9212163
GO:0001961	Process	Positive regulation of cytokine-mediated signaling pathway	IC	9212163
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IBA
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IDA	9212163, 9242711, 19075029, 21873652
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IEA
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	IMP	15629135
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	NAS	9461603
GO:0003841	Function	1-acylglycerol-3-phosphate O-acyltransferase activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	21873652
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	NAS	9461603
GO:0006654	Process	Phosphatidic acid biosynthetic process	IBA
GO:0006654	Process	Phosphatidic acid biosynthetic process	IGI	9212163
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS	9212163
GO:0008544	Process	Epidermis development	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016024	Process	CDP-diacylglycerol biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IEA
GO:0035579	Component	Specific granule membrane	TAS

MIM	HGNC	e!Ensembl
603100	325	ENSG00000169692

O15120

Protein name

1-acyl-sn-glycerol-3-phosphate acyltransferase beta (EC 2.3.1.51) (1-acylglycerol-3-phosphate O-acyltransferase 2) (1-AGP acyltransferase 2) (1-AGPAT 2) (Lysophosphatidic acid acyltransferase beta) (LPAAT-beta)

Protein function

Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone. {ECO:0000269|PubMed:15629135,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01553	Acyltransferase	77 → 205	Acyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed predominantly in adipose tissue, pancreas and liver. {ECO:0000269|PubMed:21873652, ECO:0000269|PubMed:9242711}.

Sequence

MELWPCLAAALLLLLLLVQLSRAAEFYAKVALYCALCFTVSAVASLVCLLRHGGRTVENM
SIIGWFVRSFKYFYGLRFEVRDPRRLQEARPCVIVSNHQSILDMMGLMEVLPERCVQIAK
RELLFLGPVGLIMYLGGVFFINRQRSSTAMTVMADLGERMVRENLKVWIYPEGTRNDNGD
LLPFKKGAFYLAVQAQVPIVPVVYSSFSSFYNTKKKFFTSGTVTVQVLEAIPTSGLTAAD
VPALVDTCHRAMRTTFLHISKTPQENGATAGSGVQPAQ

Sequence length

278

Interactions

View interactions

	KEGG		Reactome
	Glycerolipid metabolism Glycerophospholipid metabolism Metabolic pathways Phospholipase D signaling pathway Fat digestion and absorption		Synthesis of PA Neutrophil degranulation

190

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AGPAT2-related disorder	Likely pathogenic	rs1437995318	RCV003420787
Congenital generalized lipodystrophy	Pathogenic	rs2119186288, rs116807569	RCV002266031 RCV003488328
Congenital generalized lipodystrophy type 1	Pathogenic; Likely pathogenic	rs1693228350, rs1255380257, rs2131023674, rs2131023956, rs763254660, rs797045222, rs104894093, rs116807569, rs387906355, rs104894100, rs121908925, rs606231168, rs121908926, rs2490701344, rs886063722 View all (9 more)	RCV002246369 RCV001706773 RCV003990595 RCV002251240 RCV002470445 RCV000193026 RCV000007003 RCV000007004 RCV000007005 RCV000007006 RCV000007008 RCV000007009 RCV000007010 RCV003237332 RCV000412550 RCV004547267 RCV000412645 RCV000412609 RCV000412496 RCV000414972 RCV002506195 RCV000754915 RCV000754914 RCV000985088
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs606231168	RCV005887332

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Likely benign	rs199964729	RCV005900521
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs143244920	RCV005908856
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs143244920	RCV005908857
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs138994150	RCV005900522
Monogenic diabetes	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs142993240, rs142417583, rs142248792, rs114782902, rs142145391, rs563539429, rs1554754454, rs140995132, rs150530734, rs1230993149, rs375796317, rs1284278396	RCV000445508 RCV000445394 RCV000445463 RCV000445386 RCV000445461 RCV000445545 RCV000664130 RCV000664131 RCV001174396 RCV001174393 RCV001174397 RCV001174398
Prostate cancer	Uncertain significance	rs193920848	RCV000149182

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anxiety	Associate	34213454
Breast Neoplasms	Associate	33380715
Carcinoma Ovarian Epithelial	Associate	16944535
Cardiovascular Diseases	Associate	32117065
Daneman Davy Mancer syndrome	Associate	16735770
Depressive Disorder	Associate	34213454
Diabetes Mellitus	Associate	30296183
Diabetes Mellitus Type 2	Associate	30563316
Diabetic Neuropathies	Associate	30563316
Glycogen Storage Disease Type IV	Associate	32349771
Hypertriglyceridemia	Associate	23362058
Lipodystrophy	Associate	30563316, 30940487, 38231342
Lipodystrophy Congenital Generalized	Associate	12362029, 15181077, 16735770, 18211975, 20684003, 22902344, 24498038, 27144933, 30563316, 32079542, 32117065, 32349771, 34033296, 34213454, 37347108
Lipodystrophy Familial Partial	Associate	26176221, 38231342
Lymphoma Mantle Cell	Stimulate	15841084
Melanoma	Associate	40200221
Mood Disorders	Associate	34213454
Neoplasms	Stimulate	15841084, 21152068
Neoplasms	Associate	16944535, 24205284, 40200221
Neoplasms Cystic Mucinous and Serous	Associate	16944535
Nervous System Diseases	Associate	30563316
Osteosarcoma	Associate	21152068, 28443990
Ovarian Neoplasms	Stimulate	15841084
Ovarian Neoplasms	Associate	16944535
Pancreatic Neoplasms	Associate	24205284
Polycystic Ovary Syndrome	Associate	33228780
Polyneuropathies	Associate	30563316
Syndrome	Associate	30296183

AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)