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 biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syn... See more...

Aliases for AGPAT2 Gene

Aliases for AGPAT2 Gene

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase 2 2 3 4 5
  • LPAAT-Beta 2 3 4
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase 2 (Lysophosphatidic Acid Acyltransferase, Beta) 2 3
  • 1-Acyl-Sn-Glycerol-3-Phosphate Acyltransferase Beta 3 4
  • Lysophosphatidic Acid Acyltransferase-Beta 2 3
  • 1-AGP Acyltransferase 2 3 4
  • 1-AGPAT 2 3 4
  • Berardinelli-Seip Congenital Lipodystrophy 2
  • Lysophosphatidic Acid Acyltransferase Beta 4
  • Testicular Tissue Protein Li 143 3
  • EC 4
  • 1-AGPAT2 3
  • AGPAT2 5
  • BSCL1 3
  • LPAAB 3
  • BSCL 3

External Ids for AGPAT2 Gene

Previous HGNC Symbols for AGPAT2 Gene

  • BSCL

Previous GeneCards Identifiers for AGPAT2 Gene

  • GC09M130790
  • GC09M131257
  • GC09M133008
  • GC09M134924
  • GC09M136843
  • GC09M138687
  • GC09M139567
  • GC09M109027

Summaries for AGPAT2 Gene

Entrez Gene Summary for AGPAT2 Gene

  • 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 biosynthesis. Mutations in this gene have been associated with congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, a disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for AGPAT2 Gene

AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2) is a Protein Coding gene. Diseases associated with AGPAT2 include Lipodystrophy, Congenital Generalized, Type 1 and Congenital Generalized Lipodystrophy. Among its related pathways are Acyl chain remodelling of PE and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and 1-acylglycerol-3-phosphate O-acyltransferase activity. An important paralog of this gene is AGPAT1.

UniProtKB/Swiss-Prot Summary for AGPAT2 Gene

  • 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.

Gene Wiki entry for AGPAT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AGPAT2 Gene

Genomics for AGPAT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AGPAT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AGPAT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AGPAT2

Top Transcription factor binding sites by QIAGEN in the AGPAT2 gene promoter:
  • C/EBPbeta
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for AGPAT2 Gene

Latest Assembly
14,315 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
14,315 bases
Minus strand

(GRCh37/hg19 by Ensembl)
14,281 bases
Minus strand

Genomic View for AGPAT2 Gene

Genes around AGPAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AGPAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AGPAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AGPAT2 Gene

Proteins for AGPAT2 Gene

  • Protein details for AGPAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    1-acyl-sn-glycerol-3-phosphate acyltransferase beta
    Protein Accession:
    Secondary Accessions:
    • O00516
    • O15106
    • Q5VUD3
    • Q5VUD4
    • Q9BSV7
    • Q9BWR7

    Protein attributes for AGPAT2 Gene

    278 amino acids
    Molecular mass:
    30914 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AGPAT2 Gene


neXtProt entry for AGPAT2 Gene

Post-translational modifications for AGPAT2 Gene

  • Ubiquitination at Lys166 and Lys261
  • Modification sites at PhosphoSitePlus

Other Protein References for AGPAT2 Gene

No data available for DME Specific Peptides for AGPAT2 Gene

Domains & Families for AGPAT2 Gene

Gene Families for AGPAT2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for AGPAT2 Gene

  • Phospholipid/glycerol acyltransferase
  • Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

Suggested Antigen Peptide Sequences for AGPAT2 Gene

GenScript: Design optimal peptide antigens:
  • Lysophosphatidic acid acyltransferase beta (PLCB_HUMAN)
  • 1-acylglycerol-3-phosphate O-acyltransferase 2 (Lysophosphatidic acid acyltransferase, beta) (Q8WUW2_HUMAN)
  • AGPAT2 protein (Q96IS9_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
  • Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
  • Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family.
genes like me logo Genes that share domains with AGPAT2: view

Function for AGPAT2 Gene

Molecular function for AGPAT2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:19709, ChEBI:CHEBI:57287, ChEBI:CHEBI:57970, ChEBI:CHEBI:58342, ChEBI:CHEBI:58608; EC=; Evidence={ECO:0000269|PubMed:15629135, ECO:0000269|PubMed:19075029, ECO:0000269|PubMed:21873652, ECO:0000269|PubMed:9242711};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37131, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74544, ChEBI:CHEBI:74546; Evidence={ECO:0000269|PubMed:15629135, ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + hexadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-hexadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37143, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:74544, ChEBI:CHEBI:74551; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + heptadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-heptadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37155, ChEBI:CHEBI:57287, ChEBI:CHEBI:74307, ChEBI:CHEBI:74544, ChEBI:CHEBI:74558; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37159, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:74544, ChEBI:CHEBI:74563; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + tetradecanoyl-CoA = 1-(9Z)-octadecenoyl-2-tetradecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37171, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:74544, ChEBI:CHEBI:74579; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + pentadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-pentadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37175, ChEBI:CHEBI:57287, ChEBI:CHEBI:74309, ChEBI:CHEBI:74544, ChEBI:CHEBI:74578; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphate = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:33187, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:57518, ChEBI:CHEBI:64839; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-tetradecanoyl-sn-glycerol 3-phosphate = 1-tetradecanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37187, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:72683, ChEBI:CHEBI:74586; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z,12Z,15Z)-octadecatrienoyl-sn-glycero-3-phosphate = 1-(9Z,12Z,15Z)-octadecatrienoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37139, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74549, ChEBI:CHEBI:74550; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-(6Z,9Z,12Z-octadecatrienoyl)-sn-glycero-3-phosphate = (6Z,9Z,12Z)-octadecatrienoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37179, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74581, ChEBI:CHEBI:74582; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(9Z)-octadecenoyl-CoA + 1-eicosanoyl-sn-glycero-3-phosphate = 1-eicosanoyl-2-(9Z)-octadecenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37183, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74583, ChEBI:CHEBI:74584; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphate + octadecanoyl-CoA = 1-hexadecanoyl-2-octadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:35907, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57518, ChEBI:CHEBI:72857; Evidence={ECO:0000269|PubMed:9242711};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphate = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:35915, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:57518, ChEBI:CHEBI:72864; Evidence={ECO:0000269|PubMed:9242711};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphate + hexadecanoyl-CoA = 1,2-dihexadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:35903, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57518, ChEBI:CHEBI:72859; Evidence={ECO:0000269|PubMed:9242711};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phosphate + tetradecanoyl-CoA = 1-hexadecanoyl-2-tetradecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:35899, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:57518, ChEBI:CHEBI:72858; Evidence={ECO:0000269|PubMed:9242711};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(11Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-(11Z)-octadecenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37603, ChEBI:CHEBI:57287, ChEBI:CHEBI:74544, ChEBI:CHEBI:75121, ChEBI:CHEBI:75122; Evidence={ECO:0000269|PubMed:21873652};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=11.05 uM for C15:0-CoA {ECO:0000269|PubMed:21873652}; KM=523.97 uM for C18:0-CoA {ECO:0000269|PubMed:21873652}; KM=30.21 uM for C18:1-CoA {ECO:0000269|PubMed:21873652}; KM=8.29 uM for LPA sn-1 C18:1 {ECO:0000269|PubMed:21873652}; Vmax=51.61 nmol/min/mg enzyme for C15:0-CoA {ECO:0000269|PubMed:21873652}; Vmax=95.55 nmol/min/mg enzyme for C18:0-CoA {ECO:0000269|PubMed:21873652}; Vmax=73.81 nmol/min/mg enzyme for C18:1-CoA {ECO:0000269|PubMed:21873652}; Vmax=86.05 nmol/min/mg enzyme for LPA sn-1 C18:1 {ECO:0000269|PubMed:21873652};
GENATLAS Biochemistry:
lysophosphatidic acid acyltransferase (? beta),expressed in many tissues with highest expression in liver,pancreas,heart

Enzyme Numbers (IUBMB) for AGPAT2 Gene

Phenotypes From GWAS Catalog for AGPAT2 Gene

Gene Ontology (GO) - Molecular Function for AGPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity IBA,NAS 9461603
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with AGPAT2: view
genes like me logo Genes that share phenotypes with AGPAT2: view

Human Phenotype Ontology for AGPAT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AGPAT2 Gene

MGI Knock Outs for AGPAT2:

Animal Models for research

  • Taconic Biosciences Mouse Models for AGPAT2

miRNA for AGPAT2 Gene

miRTarBase miRNAs that target AGPAT2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AGPAT2

No data available for Transcription Factor Targets and HOMER Transcription for AGPAT2 Gene

Localization for AGPAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AGPAT2 Gene

Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

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 AGPAT2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AGPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,ISS --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with AGPAT2: view

Pathways & Interactions for AGPAT2 Gene

genes like me logo Genes that share pathways with AGPAT2: view

UniProtKB/Swiss-Prot O15120-PLCB_HUMAN

  • Pathway: Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP-diacylglycerol from sn-glycerol 3-phosphate: step 2/3.

Gene Ontology (GO) - Biological Process for AGPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001819 positive regulation of cytokine production IMP 9212163
GO:0001961 positive regulation of cytokine-mediated signaling pathway IC 9212163
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process NAS 9461603
GO:0006654 phosphatidic acid biosynthetic process IGI,TAS --
genes like me logo Genes that share ontologies with AGPAT2: view

No data available for SIGNOR curated interactions for AGPAT2 Gene

Drugs & Compounds for AGPAT2 Gene

(3) Drugs for AGPAT2 Gene - From: HMDB

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

(54) Additional Compounds for AGPAT2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
  • (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-)
  • (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
  • (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.
genes like me logo Genes that share compounds with AGPAT2: view

Transcripts for AGPAT2 Gene

mRNA/cDNA for AGPAT2 Gene

10 NCBI additional mRNA sequence :
5 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 AGPAT2

Alternative Splicing Database (ASD) splice patterns (SP) for AGPAT2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: - -

Relevant External Links for AGPAT2 Gene

GeneLoc Exon Structure for

Expression for AGPAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AGPAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AGPAT2 Gene

This gene is overexpressed in Liver (x7.0), Adipose - Visceral (Omentum) (x6.5), and Adipose - Subcutaneous (x5.5).

Protein differential expression in normal tissues from HIPED for AGPAT2 Gene

This gene is overexpressed in Bone (27.4), Adipocyte (16.8), and Lung (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AGPAT2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AGPAT2

SOURCE GeneReport for Unigene cluster for AGPAT2 Gene:


mRNA Expression by UniProt/SwissProt for AGPAT2 Gene:

Tissue specificity: Expressed predominantly in adipose tissue, pancreas and liver.

Evidence on tissue expression from TISSUES for AGPAT2 Gene

  • Skin(4.5)
  • Kidney(4.4)
  • Pancreas(2.9)
  • Liver(2.8)
  • Intestine(2.7)
  • Muscle(2.6)
  • Heart(2.4)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AGPAT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • salivary gland
  • skull
  • tooth
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with AGPAT2: view

Primer products for research

No data available for Protein tissue co-expression partners for AGPAT2 Gene

Orthologs for AGPAT2 Gene

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

Orthologs for AGPAT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGPAT2 29 30
  • 97.6 (n)
(Bos Taurus)
Mammalia AGPAT2 29 30
  • 83.57 (n)
(Canis familiaris)
Mammalia AGPAT2 29 30
  • 82.78 (n)
(Mus musculus)
Mammalia Agpat2 29 16 30
  • 80.58 (n)
(Rattus norvegicus)
Mammalia Agpat2 29
  • 79.02 (n)
(Monodelphis domestica)
Mammalia AGPAT2 30
  • 58 (a)
(Ornithorhynchus anatinus)
Mammalia AGPAT2 30
  • 58 (a)
(Gallus gallus)
Aves AGPAT2 29 30
  • 65.59 (n)
(Anolis carolinensis)
Reptilia -- 30
  • 46 (a)
-- 30
  • 40 (a)
-- 30
  • 38 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia agpat2 29
  • 65.22 (n)
(Danio rerio)
Actinopterygii agpat2 30
  • 47 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3812 30 31
  • 27 (a)
fu12 30
  • 26 (a)
(Caenorhabditis elegans)
Secernentea T06E8.1 31
  • 34 (a)
acl-1 30
  • 30 (a)
acl-2 30
  • 30 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLC1 30
  • 23 (a)
Species where no ortholog for AGPAT2 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)
  • 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)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for AGPAT2 Gene

Gene Tree for AGPAT2 (if available)
Gene Tree for AGPAT2 (if available)
Evolutionary constrained regions (ECRs) for AGPAT2: view image
Alliance of Genome Resources:
Additional Orthologs for AGPAT2

Paralogs for AGPAT2 Gene

Paralogs for AGPAT2 Gene

(1) SIMAP similar genes for AGPAT2 Gene using alignment to 3 proteins:

  • Q96IS9_HUMAN
genes like me logo Genes that share paralogs with AGPAT2: view

Variants for AGPAT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AGPAT2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
6632 Pathogenic: Congenital generalized lipodystrophy type 1 136,676,050(-) ACCCTGGCCTCTCCCA
912322 Uncertain Significance: Congenital generalized lipodystrophy type 1 136,673,840(-) C/T
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)
912370 Uncertain Significance: Congenital generalized lipodystrophy type 1 136,687,375(-) G/T
912371 Uncertain Significance: Congenital generalized lipodystrophy type 1 136,687,376(-) A/G
913041 Likely Benign: Congenital generalized lipodystrophy type 1 136,673,242(-) G/A

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AGPAT2 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 AGPAT2 Gene

Variant ID Type Subtype PubMed ID
dgv13005n54 CNV loss 21841781
dgv13006n54 CNV loss 21841781
dgv955n27 CNV loss 19166990
dgv957n27 CNV loss 19166990
esv2422220 CNV deletion 17116639
esv2739381 CNV deletion 23290073
esv2739382 CNV deletion 23290073
esv2759720 CNV loss 17122850
esv32979 CNV gain 17666407
esv3545642 CNV deletion 23714750
nsv1053781 CNV gain 25217958
nsv1075695 CNV deletion 25765185
nsv1144303 CNV deletion 24896259
nsv469918 CNV loss 18288195
nsv509334 CNV insertion 20534489
nsv8579 CNV gain 18304495
nsv951203 CNV deletion 24416366

Variation tolerance for AGPAT2 Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.33; 63.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AGPAT2 Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGPAT2 Gene

Disorders for AGPAT2 Gene

MalaCards: The human disease database

(19) MalaCards diseases for AGPAT2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
lipodystrophy, congenital generalized, type 1
  • cgl1
congenital generalized lipodystrophy
  • beradinelli-seip syndrome
berardinelli-seip congenital lipodystrophy
  • berardinelli-seip congenital generalized lipodystrophy
complete generalized lipodystrophy
familial partial lipodystrophy
  • dunnigan syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269 PubMed:11967537, ECO:0000269 PubMed:15629135}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for AGPAT2

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with AGPAT2: view

No data available for Genatlas for AGPAT2 Gene

Publications for AGPAT2 Gene

  1. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PMID: 11967537) Agarwal AK … Garg A (Nature genetics 2002) 3 4 22 72
  2. Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. (PMID: 9212163) West J … Leung DW (DNA and cell biology 1997) 2 3 4 22
  3. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (PMID: 15629135) Haque W … Agarwal AK (Biochemical and biophysical research communications 2005) 3 4 22
  4. Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3. (PMID: 9242711) Eberhardt C … Tjoelker LW (The Journal of biological chemistry 1997) 2 3 4
  5. Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice. (PMID: 21873652) Agarwal AK … Garg A (The Journal of biological chemistry 2011) 3 4

Products for AGPAT2 Gene

Sources for AGPAT2 Gene