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AGPAT2 Gene(Protein Coding)

1-Acylglycerol-3-Phosphate O-Acyltransferase 2

GCID:
GC09M136673
GIFtS:
62
Genes Participants
UDN Logo

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
  • Lysophosphatidic Acid Acyltransferase Beta 4
  • Testicular Tissue Protein Li 143 3
  • EC 2.3.1.51 4
  • 1-AGPAT2 3
  • 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 triacylglycerol biosynthesis and Phospholipase D signaling pathway. 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AGPAT2 Gene

Genomics for AGPAT2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for AGPAT2 Gene

Enhancers for AGPAT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G136653 1.9 FANTOM5 Ensembl ENCODE dbSUPER 24.8 +27.7 27685 11.8 HDGF ATF1 CREB3L1 ARNT AGO1 SIN3A TCF12 ZNF766 GLIS2 ELK1 EGFL7 AGPAT2 FAM69B DNLZ NCLP1 FUT7 INPP5E HSPC324
GH09G136642 2 FANTOM5 Ensembl ENCODE dbSUPER 19.1 +42.4 42370 5.8 HDGF PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B EGFL7 AGPAT2 FAM69B SEC16A C9orf163 MAN1B1 ARRDC1-AS1 NOTCH1 UAP1L1 CARD9
GH09G136673 1.2 ENCODE dbSUPER 15.7 +12.0 11958 3.7 HNRNPUL1 ATF1 AGO1 ARID4B YY1 GLIS2 GATA2 FOS TAF15 SP5 AGPAT2 FAM69B SNHG7 SEC16A DNLZ MIR126
GH09G136678 1.2 Ensembl ENCODE dbSUPER 15.6 +8.2 8168 1.8 PKNOX1 SAP130 CTBP1 GATA3 POLR2A PATZ1 PRDM10 ZNF687 CEBPB ZHX2 AGPAT2 TMEM141 MIR126
GH09G136711 1.2 FANTOM5 ENCODE 13.6 -24.3 -24265 0.9 HDAC1 ZEB1 ZNF121 GLIS2 GATA2 RCOR1 FOS ZNF362 ZNF280D ZBTB2 AGPAT2 NPDC1 C9orf172 ABCA2 LCNL1 FUT7 C9orf142 CCDC183 CLIC3 FAM69B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AGPAT2 on UCSC Golden Path with GeneCards custom track

Promoters for AGPAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243062 459 1601 CREB3L1 AGO1 SIN3A GLI4 GLIS2 KLF7 KLF13 ZNF263 YY2 SMARCB1

Transcription factor binding sites by QIAGEN in the AGPAT2 gene promoter:

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 Structure • Gene Density

RefSeq DNA sequence for AGPAT2 Gene

Proteins for AGPAT2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for AGPAT2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AGPAT2 Gene

  • Ubiquitination at Lys166 and posLast=261261
  • Modification sites at PhosphoSitePlus

Other Protein References for AGPAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

HGNC:

Protein Domains for AGPAT2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for AGPAT2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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

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 TAS --
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 Model Products

  • Taconic Biosciences Mouse Models for AGPAT2

CRISPR Products

miRNA for AGPAT2 Gene

miRTarBase miRNAs that target AGPAT2

Inhibitory RNA Products

Clone Products

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

COMPARTMENTS
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
plasma membrane 5
endoplasmic reticulum 5
extracellular 2
cytoskeleton 2
peroxisome 1
nucleus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AGPAT2 Gene

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 --
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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

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

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Products:

  1. Primer

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

mRNA expression in normal human tissues for AGPAT2 Gene
mRNA expression by BioGPS for AGPAT2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for AGPAT2 Gene



NURSA nuclear receptor signaling pathways regulating expression of AGPAT2 Gene:

AGPAT2

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.

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • salivary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • 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
General:
  • 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

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
chimpanzee
(Pan troglodytes)
 Mammalia AGPAT2 34 35
  • 97.6 (n)
cow
(Bos Taurus)
 Mammalia AGPAT2 34 35
  • 83.57 (n)
dog
(Canis familiaris)
 Mammalia AGPAT2 34 35
  • 82.78 (n)
mouse
(Mus musculus)
 Mammalia Agpat2 34 16 35
  • 80.58 (n)
rat
(Rattus norvegicus)
 Mammalia Agpat2 34
  • 79.02 (n)
oppossum
(Monodelphis domestica)
 Mammalia AGPAT2 35
  • 58 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia AGPAT2 35
  • 58 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves AGPAT2 34 35
  • 65.59 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 46 (a)
 ManyToMany
-- 35
  • 40 (a)
 ManyToMany
-- 35
  • 38 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia agpat2 34
  • 65.22 (n)
zebrafish
(Danio rerio)
 Actinopterygii agpat2 35
  • 47 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG3812 36 35
  • 41 (a)
fu12 35
  • 26 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea T06E8.1 36
  • 34 (a)
acl-1 35
  • 30 (a)
 ManyToMany
acl-2 35
  • 30 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SLC1 35
  • 23 (a)
 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)

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
rs104894100 Pathogenic, Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] 136,673,906(-) GGTGC(C/T)GGAAG reference, missense
rs145975461 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] 136,673,873(+) CGTCC(A/G)CCGCA reference, missense
rs797045222 Pathogenic, Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] 136,677,047(-) ACCTC(A/G)GGGGC reference, missense
rs104894093 Pathogenic 136,677,537(-) TCGTG(C/T)GAAGC reference, stop-gained
rs1057517649 Pathogenic 136,677,558(-) CCTGC(A/G)GCATC splice-acceptor-variant

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)

Relevant External Links for AGPAT2 Gene

Human Gene Mutation Database (HGMD)
AGPAT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AGPAT2

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

Disorders for AGPAT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
lipodystrophy, congenital generalized, type 1
  • congenital generalized lipodystrophy type 1
congenital generalized lipodystrophy
  • beradinelli-seip syndrome
lipodystrophy
berardinelli-seip congenital lipodystrophy
  • berardinelli-seip 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, ECO:0000269 PubMed:15629135}. 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 22 64
  2. Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. (PMID: 15629135) Haque W. … Agarwal A.K. (Biochem. Biophys. Res. Commun. 2005) 3 4 22 64
  3. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. (PMID: 11967537) Agarwal A.K. … Garg A. (Nat. Genet. 2002) 3 4 22 64
  4. Human lysophosphatidic acid acyltransferase. cDNA cloning, expression, and localization to chromosome 9q34.3. (PMID: 9242711) Eberhardt C. … Tjoelker L.W. (J. Biol. Chem. 1997) 2 3 4 64
  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 A.K. … Garg A. (J. Biol. Chem. 2011) 3 4 64

Products for AGPAT2 Gene

Sources for AGPAT2 Gene

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