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Aliases for AGPAT2 Gene

Aliases for AGPAT2 Gene

  • 1-Acylglycerol-3-Phosphate O-Acyltransferase 2 2 3 4 5
  • 1-Acylglycerol-3-Phosphate O-Acyltransferase 2 (Lysophosphatidic Acid Acyltransferase, Beta) 2 3
  • Lysophosphatidic Acid Acyltransferase Beta 3 4
  • 1-AGP Acyltransferase 2 3 4
  • LPAAT-Beta 3 4
  • 1-AGPAT 2 3 4
  • Berardinelli-Seip Congenital Lipodystrophy 2
  • Lysophosphatidic Acid Acyltransferase-Beta 3
  • Lysophosphatidic Acid Acyltransferase 2
  • Testicular Tissue Protein Li 143 3
  • EC 2.3.1.51 4
  • 1-AGPAT2 3
  • BSCL1 3
  • LPAAB 3
  • Beta 2
  • 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 Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 for AGPAT2 Gene

  • Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.

Gene Wiki entry for AGPAT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGPAT2 Gene

Genomics for AGPAT2 Gene

Regulatory Elements for AGPAT2 Gene

Promoters for AGPAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AGPAT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for AGPAT2 Gene

Chromosome:
9
Start:
136,673,143 bp from pter
End:
136,687,459 bp from pter
Size:
14,317 bases
Orientation:
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:
    O15120-PLCB_HUMAN
    Recommended name:
    1-acyl-sn-glycerol-3-phosphate acyltransferase beta
    Protein Accession:
    O15120
    Secondary Accessions:
    • O00516
    • O15106
    • Q5VUD3
    • Q5VUD4
    • Q9BSV7
    • Q9BWR7

    Protein attributes for AGPAT2 Gene

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

    Alternative splice isoforms for AGPAT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AGPAT2 Gene

Proteomics data for AGPAT2 Gene at MOPED

Post-translational modifications for AGPAT2 Gene

  • Ubiquitination at Lys 166 and Lys 261
  • Modification sites at PhosphoSitePlus

Other Protein References for AGPAT2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AGPAT2 (AGPAT2)

No data available for DME Specific Peptides for AGPAT2 Gene

Domains & Families for AGPAT2 Gene

Gene Families for AGPAT2 Gene

Graphical View of Domain Structure for InterPro Entry

O15120

UniProtKB/Swiss-Prot:

PLCB_HUMAN :
  • 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.
Domain:
  • The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.
Family:
  • 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

GENATLAS Biochemistry:
lysophosphatidic acid acyltransferase (? beta),expressed in many tissues with highest expression in liver,pancreas,heart
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.
UniProtKB/Swiss-Prot Function:
Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.

Enzyme Numbers (IUBMB) for AGPAT2 Gene

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 Model Products

miRNA for AGPAT2 Gene

miRTarBase miRNAs that target AGPAT2

No data available for Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for AGPAT2 Gene COMPARTMENTS Subcellular localization image for AGPAT2 gene
Compartment Confidence
endoplasmic reticulum 5
cytoskeleton 2
extracellular 2
plasma membrane 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AGPAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 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.

Interacting Proteins for AGPAT2 Gene

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:0006654 phosphatidic acid biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0008654 phospholipid biosynthetic process IEA --
GO:0016024 CDP-diacylglycerol biosynthetic process IEA --
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

(2) Drugs for AGPAT2 Gene - From: HMDB

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

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

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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • Trans-tetra-dec-2-enoyl-Coenzyme A
38795-33-4
genes like me logo Genes that share compounds with AGPAT2: view

Transcripts for AGPAT2 Gene

Unigene Clusters for AGPAT2 Gene

1-acylglycerol-3-phosphate O-acyltransferase 2:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b
SP1: -
SP2: - -
SP3:

Relevant External Links for AGPAT2 Gene

GeneLoc Exon Structure for
AGPAT2
ECgene alternative splicing isoforms for
AGPAT2

Expression for AGPAT2 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for AGPAT2 Gene



SOURCE GeneReport for Unigene cluster for AGPAT2 Gene Hs.320151

mRNA Expression by UniProt/SwissProt for AGPAT2 Gene

O15120-PLCB_HUMAN
Tissue specificity: Expressed predominantly in adipose tissue, pancreas and liver.
genes like me logo Genes that share expression patterns with AGPAT2: view

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia AGPAT2 35
  • 83.57 (n)
  • 79.5 (a)
AGPAT2 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AGPAT2 35
  • 82.78 (n)
  • 77.66 (a)
AGPAT2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Agpat2 35
  • 80.58 (n)
  • 76.98 (a)
Agpat2 16
Agpat2 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AGPAT2 35
  • 97.6 (n)
  • 96.85 (a)
AGPAT2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Agpat2 35
  • 79.02 (n)
  • 75.9 (a)
oppossum
(Monodelphis domestica)
Mammalia AGPAT2 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AGPAT2 36
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves AGPAT2 35
  • 65.59 (n)
  • 57.26 (a)
AGPAT2 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 40 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia agpat2 35
  • 65.22 (n)
  • 58.27 (a)
zebrafish
(Danio rerio)
Actinopterygii agpat2 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3812 37
  • 41 (a)
CG3812 36
  • 27 (a)
ManyToMany
fu12 36
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea T06E8.1 37
  • 34 (a)
acl-1 36
  • 30 (a)
ManyToMany
acl-2 36
  • 30 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SLC1 36
  • 23 (a)
OneToMany
Species with no ortholog for AGPAT2:
  • A. gosspyii yeast (Ashbya 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 squirt (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

ENSEMBL:
Gene Tree for AGPAT2 (if available)
TreeFam:
Gene Tree for AGPAT2 (if available)

Paralogs for AGPAT2 Gene

Paralogs for AGPAT2 Gene

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

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

Variants for AGPAT2 Gene

Sequence variations from dbSNP and Humsavar for AGPAT2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs145975461 Congenital generalized lipodystrophy 1 (CGL1) 136,673,873(+) CGTCC(A/G)CCGCA reference, missense
VAR_017327 Congenital generalized lipodystrophy 1 (CGL1)
VAR_017328 Congenital generalized lipodystrophy 1 (CGL1)
rs6951 -- 136,673,310(-) TCAGG(C/G)TCTCT utr-variant-3-prime
rs10320 -- 136,673,235(-) GGAAT(C/T)GGGGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AGPAT2 Gene

Variant ID Type Subtype PubMed ID
dgv8385n71 CNV Loss 21882294
dgv2426e1 CNV Complex 17122850
nsv469918 CNV Loss 18288195
dgv8396n71 CNV Loss 21882294
dgv8400n71 CNV Loss 21882294
nsv894386 CNV Loss 21882294
nsv894387 CNV Gain 21882294
nsv8579 CNV Gain 18304495
dgv8401n71 CNV Loss 21882294
nsv509334 CNV Insertion 20534489
dgv8404n71 CNV Loss 21882294
dgv2427e1 CNV Complex 17122850
dgv955n27 CNV Loss 19166990
esv2422220 CNV Deletion 17116639
dgv8407n71 CNV Loss 21882294
dgv8408n71 CNV Loss 21882294
nsv894415 CNV Gain 21882294
nsv894429 CNV Loss 21882294
dgv957n27 CNV Loss 19166990
nsv894430 CNV Loss 21882294
dgv8410n71 CNV Loss 21882294
nsv894434 CNV Loss 21882294
dgv8411n71 CNV Loss 21882294
dgv8412n71 CNV Loss 21882294
esv32979 CNV Gain 17666407
nsv894446 CNV Loss 21882294
esv2739381 CNV Deletion 23290073
esv2739382 CNV Deletion 23290073

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)

Relevant External Links for AGPAT2 Gene

HapMap Linkage Disequilibrium report
AGPAT2
Human Gene Mutation Database (HGMD)
AGPAT2

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

Disorders for AGPAT2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for AGPAT2 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

PLCB_HUMAN
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AGPAT2

Human Genome Epidemiology (HuGE) Navigator
AGPAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AGPAT2
genes like me logo Genes that share disorders with AGPAT2: view

No data available for Genatlas for AGPAT2 Gene

Publications for AGPAT2 Gene

  1. Cloning and expression of two human lysophosphatidic acid acyltransferase cDNAs that enhance cytokine-induced signaling responses in cells. (PMID: 9212163) West J. … Leung D.W. (DNA Cell Biol. 1997) 2 3 4 23 67
  2. Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome. (PMID: 19226263) Miranda D.M. … De Marco L. (Clin. Endocrinol. (Oxf) 2009) 3 23
  3. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (PMID: 19278620) Boutet E. … Magre J. (Biochimie 2009) 3 23
  4. Talon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome. (PMID: 18155601) Solanki M. … Pk S. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008) 3 23
  5. Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. (PMID: 18698612) Simha V. … Garg A. (Am. J. Med. Genet. A 2008) 3 23

Products for AGPAT2 Gene

Sources for AGPAT2 Gene

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