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

2012-12-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
1-AGPAT2,BSCL,BSCL1,LPAAB,LPAAT-beta
FUSION GENES

Other Information

Locus ID:

NCBI: 10555
MIM: 603100
HGNC: 325
Ensembl: ENSG00000169692

Variants:

dbSNP: 10555
ClinVar: 10555
TCGA: ENSG00000169692
COSMIC: AGPAT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169692ENST00000371694O15120
ENSG00000169692ENST00000371694A0A024R8F9
ENSG00000169692ENST00000371696O15120
ENSG00000169692ENST00000371696A0A024R8I7
ENSG00000169692ENST00000538402O15120
ENSG00000169692ENST00000538402A0A024R8I7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500

Pathways

PathwaySourceExternal ID
Glycerolipid metabolismKEGGko00561
Glycerophospholipid metabolismKEGGko00564
Glycerolipid metabolismKEGGhsa00561
Glycerophospholipid metabolismKEGGhsa00564
Metabolic pathwaysKEGGhsa01100
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
Triacylglycerol biosynthesisKEGGhsa_M00089
Triacylglycerol biosynthesisKEGGM00089
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Synthesis of PAREACTOMER-HSA-1483166
Phospholipase D signaling pathwayKEGGko04072
Phospholipase D signaling pathwayKEGGhsa04072
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
119675372002AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.130
146027852003Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes.38
192786202009Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.37
218736522011Human 1-acylglycerol-3-phosphate O-acyltransferase isoforms 1 and 2: biochemical characterization and inability to rescue hepatic steatosis in Agpat2(-/-) gene lipodystrophic mice.23
211520682010Lysophosphatidic acid acyltransferase β (LPAATβ) promotes the tumor growth of human osteosarcoma.22
235785722013MicroRNA-24 inhibits osteosarcoma cell proliferation both in vitro and in vivo by targeting LPAATβ.21
156291352005Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy.19
151810772004Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.18
192262632009Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.16
228722372012Alterations in lipid signaling underlie lipodystrophy secondary to AGPAT2 mutations.15

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53073/agpat2