AGPAT2 Chromosome 9
1-acylglycerol-3-phosphate O-acyltransferase 2
Upload your DNA to see your personal genotypes for variants in AGPAT2.
What This Gene Does
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]
Gene Info
Gene Group
"1-acylglycerol-3-phosphate O-acyltransferases|Lysophospholipid acyltransferases"
Locus Type
gene with protein product
Location
9q34.3
Ensembl
ENSG00000169692
Associated Conditions (11)
Congenital generalized lipodystrophy type 1
Monogenic diabetes
AGPAT2-related disorder
Inborn genetic diseases
Malignant tumor of esophagus
Hepatocellular carcinoma
Congenital generalized lipodystrophy
Malignant tumor of urinary bladder
Thyroid cancer
nonmedullary
1
Key Variants
RS1057518715
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
Health Risk
RS114782902
Conflicting classifications of pathogenicity
Monogenic diabetes, Congenital generalized lipodystrophy type 1, AGPAT2-related disorder
Health Risk
RS140553479
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
Health Risk
RS142145391
Conflicting classifications of pathogenicity
Monogenic diabetes, Congenital generalized lipodystrophy type 1, AGPAT2-related disorder
Health Risk
RS142176861
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, Inborn genetic diseases, Congenital generalized lipodystrophy type 1
Health Risk
RS142207711
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, AGPAT2-related disorder, Congenital generalized lipodystrophy type 1
Health Risk
RS142248792
Conflicting classifications of pathogenicity
Monogenic diabetes, Congenital generalized lipodystrophy type 1, Monogenic diabetes
Health Risk
RS143244920
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, Inborn genetic diseases, AGPAT2-related disorder
Health Risk
RS146973799
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, AGPAT2-related disorder, Congenital generalized lipodystrophy type 1
Health Risk
RS200288462
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, AGPAT2-related disorder, Congenital generalized lipodystrophy type 1
Health Risk
RS368090654
Conflicting classifications of pathogenicity
Congenital generalized lipodystrophy type 1, Inborn genetic diseases, Congenital generalized lipodystrophy type 1
Health Risk
RS375796317
Conflicting classifications of pathogenicity
Monogenic diabetes, Congenital generalized lipodystrophy type 1, Inborn genetic diseases
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057518715 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS114782902 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Congenital generalized lipodystrophy type 1, AGPAT2-related disorder |
| RS140553479 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS142145391 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Congenital generalized lipodystrophy type 1, AGPAT2-related disorder |
| RS142176861 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Inborn genetic diseases, Congenital generalized lipodystrophy type 1 |
| RS142207711 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, AGPAT2-related disorder, Congenital generalized lipodystrophy type 1 |
| RS142248792 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Congenital generalized lipodystrophy type 1, Monogenic diabetes |
| RS143244920 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Inborn genetic diseases, AGPAT2-related disorder |
| RS146973799 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, AGPAT2-related disorder, Congenital generalized lipodystrophy type 1 |
| RS200288462 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, AGPAT2-related disorder, Congenital generalized lipodystrophy type 1 |
| RS368090654 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Inborn genetic diseases, Congenital generalized lipodystrophy type 1 |
| RS375796317 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Congenital generalized lipodystrophy type 1, Inborn genetic diseases |
| RS528513856 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Congenital generalized lipodystrophy type 1, Inborn genetic diseases |
| RS531012485 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS543374987 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS552941425 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Inborn genetic diseases, Congenital generalized lipodystrophy type 1 |
| RS563539429 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Congenital generalized lipodystrophy type 1, Monogenic diabetes |
| RS746809573 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS761143874 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS762040181 | Health Risk | Conflicting classifications of pathogenicity | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS1255380257 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS1437995318 | Health Risk | Likely pathogenic | AGPAT2-related disorder, AGPAT2-related disorder |
| RS2131023674 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS2490701553 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS763254660 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS886063722 | Health Risk | Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS104894093 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS104894100 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS1057518714 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS116807569 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy, Congenital generalized lipodystrophy type 1 |
| RS121908925 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS121908926 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS1564290079 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS1564290914 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS1693228350 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS2119186288 | Health Risk | Pathogenic | Congenital generalized lipodystrophy, Congenital generalized lipodystrophy |
| RS2131023956 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS2490701344 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS764260414 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS797045222 | Health Risk | Pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS886043265 | Health Risk | Pathogenic | — |
| RS1131691791 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS138994150 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Malignant tumor of urinary bladder, AGPAT2-related disorder |
| RS1588263957 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS387906355 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS606231168 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Thyroid cancer, nonmedullary |
| RS748157664 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |
| RS933422777 | Health Risk | Pathogenic/Likely pathogenic | Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1 |