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
- 1-AGP Acyltransferase 2 3 4
- LPAAT-Beta 3 4
- 1-AGPAT 2 3 4
- 1-Acyl-Sn-Glycerol-3-Phosphate Acyltransferase Beta 3
- Lysophosphatidic Acid Acyltransferase, Beta 2
- Berardinelli-Seip Congenital Lipodystrophy 2
- Lysophosphatidic Acid Acyltransferase-Beta 3
External Ids for AGPAT2 Gene
- HGNC: 325
- Entrez Gene: 10555
- Ensembl: ENSG00000169692
- OMIM: 603100
- UniProtKB: O15120
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
-
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 Innate Immune System and Fat digestion and absorption. 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 for AGPAT2 Gene
-
Converts lysophosphatidic acid (LPA) into phosphatidic acid by incorporating an acyl moiety at the sn-2 position of the glycerol backbone.
Additional gene information for AGPAT2 Gene
- Monarch Initiative
- Search for AGPAT2 at DataMed
- Search for AGPAT2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGPAT2 Gene
Genomics for AGPAT2 Gene
GeneHancer (GH) Regulatory Elements for AGPAT2 Gene
- Top Transcription factor binding sites by QIAGEN in the AGPAT2 gene promoter:
Regulatory Element Products
Genomic Locations for AGPAT2 Gene
- chr9:136,673,143-136,687,459
- (GRCh38/hg38)
- Size:
- 14,317 bases
- Orientation:
- Minus strand
- chr9:139,567,595-139,581,911
- (GRCh37/hg19)
Genomic View for AGPAT2 Gene
- Cytogenetic band:
-
- 9q34.3 by Ensembl
- 9q34.3 by Entrez Gene
- 9q34.3 by HGNC


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
- O00516
- O15106
- Q5VUD3
- Q5VUD4
- Q9BSV7
- Q9BWR7
Protein attributes for AGPAT2 Gene
- Size:
- 278 amino acids
- Molecular mass:
- 30914 Da
- Quaternary structure:
- No Data Available
Protein Expression for AGPAT2 Gene
Post-translational modifications for AGPAT2 Gene
- Ubiquitination at posLast=166166 and posLast=261261
Other Protein References for AGPAT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for AGPAT2 (AGPAT2)
-
Custom Antibody ServicesOriGene Antibodies for AGPAT2
- Novus Biologicals Antibodies for AGPAT2
-
Abcam antibodies for AGPAT2
- Invitrogen Antibodies for AGPAT2
- GeneTex AGPAT2 antibody for AGPAT2
Protein Products
-
OriGene Purified Proteins for AGPAT2
- Search Origene for MassSpec and Protein Over-expression Lysates for AGPAT2
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- antibodies-online: Search results for 4 available AGPAT2 Proteins ranked by validation data
- Compare Top AGPAT2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for AGPAT2
-
Abcam proteins for AGPAT2
Assay Products
No data available for DME Specific Peptides for AGPAT2 Gene
Domains & Families for AGPAT2 Gene
Gene Families for AGPAT2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
Protein Domains for AGPAT2 Gene
Suggested Antigen Peptide Sequences for AGPAT2 Gene
Graphical View of Domain Structure for InterPro Entry
O15120UniProtKB/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.
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
Phenotypes From GWAS Catalog for AGPAT2 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003841 | 1-acylglycerol-3-phosphate O-acyltransferase activity | TAS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
Phenotypes for AGPAT2 Gene
- MGI mutant phenotypes for AGPAT2:
-
inferred from 2 alleles
- homeostasis/metabolism phenotype
- mortality/aging
- immune system phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for AGPAT2:
-
- Increased vaccinia virus (VACV) infection
- Decreased viability
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased shRNA abundance (Z-score < -2)
- Increased transferrin (TF) endocytosis
- Increased shRNA abundance (Z-score > 2)
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
Animal Models for AGPAT2 Gene
- MGI Knock Outs for AGPAT2:
-
- Agpat2 tm1Garg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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ViGene Biosciences lentiviral particle packaged cDNA for AGPAT2 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for AGPAT2
- genomics-online: gRNA clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
- Applied Biological Materials CRISPR for AGPAT2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGPAT2
- GenScript: Design CRISPR guide RNA sequences for AGPAT2
miRNA for AGPAT2 Gene
- miRTarBase miRNAs that target AGPAT2
miRNA Products
- Search ViGene Biosciences for AGPAT2
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for AGPAT2
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- genomics-online: shRNA clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AGPAT2 gene
Clone Products
- Sino Biological Human cDNA Clone for AGPAT2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
-
ProteoGenix Clones for AGPAT2
- 8678-agpat2-1-acylglycerol-3-phosphate-o-acyltransferase-2-lysophosphatidic-acid-acyltransferase-beta-gene
- 8614-agpat2-1-acylglycerol-3-phosphate-o-acyltransferase-2-lysophosphatidic-acid-acyltransferase-beta-gene
- 7802-agpat2-1-acylglycerol-3-phosphate-o-acyltransferase-2-lysophosphatidic-acid-acyltransferase-beta-gene
- ProteoGenix Custom Cloning/Gene Synthesis Service (Subcloning and Mutagenesis/Gene Library Synthesis)
- Applied Biological Materials Clones for AGPAT2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for AGPAT2
-
ViGene Biosciences adenoviral particle packaged cDNA for AGPAT2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AGPAT2 gene
-
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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.
- Centrosome (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | ISS | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for AGPAT2 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glycerophospholipid biosynthesis | ||
2 | Metabolism |
.37
|
|
3 | Innate Immune System |
.61
|
|
4 | triacylglycerol biosynthesis | ||
5 | Fat digestion and absorption |
Pathways by source for AGPAT2 Gene
1 Cell Signaling Technology pathway for AGPAT2 Gene
4 BioSystems pathways for AGPAT2 Gene
10 Reactome pathways for AGPAT2 Gene
5 KEGG pathways for AGPAT2 Gene
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
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 | TAS,IGI | -- |
No data available for SIGNOR curated interactions for AGPAT2 Gene
Drugs & Compounds for AGPAT2 Gene
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
(2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
(2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
(2E)-Octenoyl-CoA |
|
10018-94-7 |
|
|||
(2E)-Tetradecenoyl-CoA |
|
38795-33-4 |
|
Transcripts for AGPAT2 Gene
mRNA/cDNA for AGPAT2 Gene
- (2) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (378) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for AGPAT2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for AGPAT2
- genomics-online: gRNA clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
- Applied Biological Materials CRISPR for AGPAT2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for AGPAT2
- GenScript: Design CRISPR guide RNA sequences for AGPAT2
miRNA Products
- Search ViGene Biosciences for AGPAT2
Inhibitory RNA Products
- Origene shrna and RNAi products in human, mouse, rat for AGPAT2
- Browse OriGene Inhibitory RNA Products For AGPAT2
- genomics-online: shRNA clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for AGPAT2 gene
Clone Products
- Sino Biological Human cDNA Clone for AGPAT2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
-
ProteoGenix Clones for AGPAT2
- 8678-agpat2-1-acylglycerol-3-phosphate-o-acyltransferase-2-lysophosphatidic-acid-acyltransferase-beta-gene
- 8614-agpat2-1-acylglycerol-3-phosphate-o-acyltransferase-2-lysophosphatidic-acid-acyltransferase-beta-gene
- 7802-agpat2-1-acylglycerol-3-phosphate-o-acyltransferase-2-lysophosphatidic-acid-acyltransferase-beta-gene
- ProteoGenix Custom Cloning/Gene Synthesis Service (Subcloning and Mutagenesis/Gene Library Synthesis)
- Applied Biological Materials Clones for AGPAT2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | - | |||||||||||||
SP3: |
Expression for AGPAT2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Subcutaneous White Adipocytes Subcutaneous White Adipose
- Visceral White Preadipocytes Visceral White Adipose
- Subcutaneous White Preadipocytes Cranial Subcutaneous White Adipose
- Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
- Subcutaneous White Adipocytes Facial Subcutaneous White Adipose
- Kidney (Urinary System)
- Intestine (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for AGPAT2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for AGPAT2 Gene
NURSA nuclear receptor signaling pathways regulating expression of AGPAT2 Gene:
AGPAT2SOURCE GeneReport for Unigene cluster for AGPAT2 Gene:
Hs.320151mRNA Expression by UniProt/SwissProt for AGPAT2 Gene:
O15120-PLCB_HUMANEvidence on tissue expression from TISSUES for AGPAT2 Gene
- Skin(4.4)
- Kidney(4.2)
- Liver(2.4)
- Muscle(2.2)
- Pancreas(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for AGPAT2 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- 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
Primer Products
-
OriGene qPCR primer pairs and template standards for AGPAT2
-
OriGene qPCR primer pairs for AGPAT2
- genomics-online: primer clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | AGPAT2 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | AGPAT2 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | AGPAT2 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Agpat2 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Agpat2 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | AGPAT2 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | AGPAT2 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | AGPAT2 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
-- 34 |
|
ManyToMany | |||
-- 34 |
|
ManyToMany | |||
tropical clawed frog (Silurana tropicalis) |
Amphibia | agpat2 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | agpat2 34 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | CG3812 35 34 |
|
||
fu12 34 |
|
ManyToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | T06E8.1 35 |
|
|
|
acl-1 34 |
|
ManyToMany | |||
acl-2 34 |
|
ManyToMany | |||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SLC1 34 |
|
OneToMany |
- Species where no ortholog for AGPAT2 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for AGPAT2 Gene
(1) SIMAP similar genes for AGPAT2 Gene using alignment to 3 proteins:
Variants for AGPAT2 Gene
SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1012752030 | uncertain-significance, Berardinelli-Seip congenital lipodystrophy | 136,687,418(-) | C/A/G | 5_prime_UTR_variant | |
rs10320 | benign, Berardinelli-Seip congenital lipodystrophy | 136,673,235(-) | G/A | 3_prime_UTR_variant | |
rs1045877433 | uncertain-significance, Berardinelli-Seip congenital lipodystrophy | 136,673,238(-) | T/G | 3_prime_UTR_variant | |
rs104894093 | pathogenic, Congenital generalized lipodystrophy type 1 | 136,677,537(-) | G/A | coding_sequence_variant, stop_gained | |
rs104894100 | pathogenic, Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] | 136,673,906(-) | A/G | coding_sequence_variant, missense_variant |
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 |
Additional Variant Information for AGPAT2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AGPAT2 Gene
Disorders for AGPAT2 Gene

(8) MalaCards diseases for AGPAT2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
lipodystrophy, congenital generalized, type 1 |
|
|
congenital generalized lipodystrophy |
|
|
lipodystrophy |
|
|
berardinelli-seip congenital lipodystrophy |
|
|
spastic paraplegia 17, autosomal dominant |
|
|
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, ECO:0000269 PubMed:15629135}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for AGPAT2
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for AGPAT2 Gene
Publications for AGPAT2 Gene
- 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 58
- 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 58
- AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PMID: 11967537) Agarwal AK … Garg A (Nature genetics 2002) 3 4 22 58
- 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 58
- 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 58
Products for AGPAT2 Gene
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- Custom Antibody ServicesOriGene Antibodies for AGPAT2
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- OriGene qPCR primer pairs and template standards for AGPAT2
- OriGene qPCR primer pairs for AGPAT2
- OriGene CRISPR knockouts for AGPAT2
- OriGene ORF clones in human for AGPAT2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AGPAT2
- GenScript: Next-day shipping of latest version cDNA ORF clones for AGPAT2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for AGPAT2
- GenScript Custom Assay Services for AGPAT2
- GenScript Custom overexpressing Cell Line Services for AGPAT2
- GenScript: Design CRISPR guide RNA sequences for AGPAT2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AGPAT2
- Cell Signaling Technology (CST) Antibodies for AGPAT2 (AGPAT2)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for AGPAT2
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for AGPAT2
- Novus Biologicals proteins and lysates for AGPAT2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for AGPAT2
- Abcam proteins for AGPAT2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for AGPAT2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online: Search results for 42 available AGPAT2 Antibodies ranked by validation data
- Compare Top AGPAT2 Antibodies
- antibodies-online: Search results for 14 available AGPAT2 Elisa Kits ranked by validation data
- Compare Top AGPAT2 Elisa Kits
- antibodies-online: Search results for 4 available AGPAT2 Proteins ranked by validation data
- Compare Top AGPAT2 Proteins
- Quality Products:
- GeneTex AGPAT2 antibody for AGPAT2
- Search GeneTex for Proteins for AGPAT2
- ViGene Biosciences adenoviral particle packaged cDNA for AGPAT2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for AGPAT2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AGPAT2 gene
- Search ViGene Biosciences for AGPAT2
- Horizon Cell Lines for AGPAT2
- genomics-online: cdna clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
- orf clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
- genomics-online: gRNA clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
- genomics-online: primer clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
- genomics-online: shRNA clones - Search results for 159 available AGPAT2 gene related products
- Overview of 159 available AGPAT2 gene related products
Sources for AGPAT2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew