Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80339
MIM: 609567
HGNC: 18590
Ensembl: ENSG00000100344
Variants:
dbSNP: 80339
ClinVar: 80339
TCGA: ENSG00000100344
COSMIC: PNPLA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000100344 | ENST00000216180 | Q9NST1 |
| ENSG00000100344 | ENST00000406117 | F8W8E5 |
| ENSG00000100344 | ENST00000423180 | Q9NST1 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164925725 | Toxic liver disease | Disease | VariantAnnotation | associated | PD | 28744905 | |
| PA443309 | Alcoholism | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 30132178 | |
| PA446155 | Precursor Cell Lymphoblastic Leukemia-Lymphoma | Disease | ClinicalAnnotation, VariantAnnotation | associated | PD | 28744905 | |
| PA448073 | ethanol | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 30132178 | |
| PA448492 | asparaginase | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 28744905 | |
| PA449165 | cyclophosphamide | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 28744905 | |
| PA449212 | daunorubicin | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 28744905 | |
| PA451096 | prednisolone | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 28744905 | |
| PA451879 | vincristine | Chemical | ClinicalAnnotation, VariantAnnotation | associated | PD | 28744905 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37103556 | 2024 | No association of NAFLD-related polymorphisms in PNPLA3 and TM6SF2 with all-cause and cardiovascular mortality in an Austrian population study. | 0 |
| 37625151 | 2024 | Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression. | 0 |
| 38083881 | 2024 | Association of liver fibrosis with extrahepatic cancer in steatotic liver disease patients with PNPLA3 I148M GG genotype. | 3 |
| 38110719 | 2024 | PNPLA3-associated mitochondrial dysfunction. | 0 |
| 38112841 | 2024 | Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease. | 1 |
| 38145725 | 2024 | Age, BMI, and Type 2 Diabetes Modify the Relationship Between PNPLA3 and Advanced Fibrosis in Children and Adults With NAFLD. | 1 |
| 38458749 | 2024 | PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans. | 1 |
| 38563432 | 2024 | Activin A levels in metabolic dysfunction-associated steatotic liver disease associates with fibrosis and the PNPLA3 I148M variant. | 0 |
| 38657050 | 2024 | The fatty liver disease-causing protein PNPLA3-I148M alters lipid droplet-Golgi dynamics. | 2 |
| 38674929 | 2024 | The Role of PNPLA3_rs738409 Gene Variant, Lifestyle Factors, and Bioactive Compounds in Nonalcoholic Fatty Liver Disease: A Population-Based and Molecular Approach towards Healthy Nutrition. | 0 |
| 37103556 | 2024 | No association of NAFLD-related polymorphisms in PNPLA3 and TM6SF2 with all-cause and cardiovascular mortality in an Austrian population study. | 0 |
| 37625151 | 2024 | Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression. | 0 |
| 38083881 | 2024 | Association of liver fibrosis with extrahepatic cancer in steatotic liver disease patients with PNPLA3 I148M GG genotype. | 3 |
| 38110719 | 2024 | PNPLA3-associated mitochondrial dysfunction. | 0 |
| 38112841 | 2024 | Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease. | 1 |
Citation
Dessen P
PNPLA3 (patatin like phospholipase domain containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2011-05-01
Online version: http://atlasgeneticsoncology.org/gene/43085/pnpla3
