Property Summary

NCBI Gene PubMed Count 199
Grant Count 22
R01 Count 8
Funding $4,558,323.01
PubMed Score 329.54
PubTator Score 359.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 2.200 0.000
osteosarcoma 2.252 0.000
Atopic dermatitis -1.400 0.001
intraductal papillary-mucinous neoplasm ... 1.600 0.002
group 3 medulloblastoma 1.600 0.000
psoriasis -1.400 0.000
Breast cancer 1.800 0.004
ovarian cancer -1.700 0.000

Gene RIF (208)

PMID Text
27015186 The PPARGC1A rs8192678 GA/AA genotype and the PNPLA3 rs738409 GG genotype had an additive effect on NASH in severely obese Taiwanese patients.
26847197 This study investigates the association between PNPLA3 rs738409 with health services utilization in a general population. PNPLA3 rs738409 was associated with the number of outpatient visits, hospitalization, and inpatient days.
26760234 PNPLA3 rs738409 polymorphism was associated with the severity of liver fibrosis in patients coinfected with HIV and hepatitis C virus.
26745555 The PNPLA3 p.I148M variant is associated with non-alcoholic fatty liver disease.
26745088 PNPLA3 polymorphism is associated with Hepatocellular Carcinoma Development in Non-Viral Chronic Liver Diseases.
26707313 The rs2629751 genotype may be an important predictor of posttransplant outcome in HCV-infected patients.
26632699 Meta-analysis indicates that I148M polymorphism in the ADPN gene may independently contribute to the progression of Hepatocellular Carcinoma irrespective of the etiologies.
26605757 rs2294918 E434K decreased PNPLA3 expression, lessening the effect of the I148M variant on predisposition to steatosis and liver damage
26599080 analysis of PNPLA3 (rs738409) and IL28B (rs12979860) SNPs in HIV/HCV coinfected patients reveals no impact on liver disease or treatment response
26519102 As the HepG2 cell line harbors the I148M mutation in homozygous state it is hypothesized that this should represent an ideal model system for PNPLA3 biology.
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AA Sequence

MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGIPLEQTLQVLS      1 - 70
DLVRKARSRNIGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVD     71 - 140
ALVCSCFIPFYSGLIPPSFRGVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKL    141 - 210
SLRLCTGNLYLLSRAFVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWAN    211 - 280
MSLDSSPESAALAVRLEGDELLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRI    281 - 350
MSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCT    351 - 420
PEQDWPCWTPCSPKGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL             421 - 481
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Text Mined References (200)

PMID Year Title
27015186 2016 Interactions of a PPARGC1A Variant and a PNPLA3 Variant Affect Nonalcoholic Steatohepatitis in Severely Obese Taiwanese Patients.
26847197 2016 Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study.
26760234 2016 Impact of patatin-like phospholipase domain-containing 3 gene polymorphism (rs738409) on severity of liver disease in HIV/hepatitis C virus-coinfected patients.
26745555 2016 Reduction of Caloric Intake Might Override the Prosteatotic Effects of the PNPLA3 p.I148M and TM6SF2 p.E167K Variants in Patients with Fatty Liver: Ultrasound-Based Prospective Study.
26745088 2015 Association of PNPLA3 Polymorphism with Hepatocellular Carcinoma Development and Prognosis in Viral and Non-Viral Chronic Liver Diseases.
26707313 2015 Impact of Donor and Recipient Single Nucleotide Polymorphisms in Living Liver Donor Transplantation for Hepatitis C.
26632699 2015 Significant Association Between Adiponutrin and Hepatocellular Carcinoma Risk.
26605757 2016 The rs2294918 E434K variant modulates patatin-like phospholipase domain-containing 3 expression and liver damage.
26599080 2015 The Impact of PNPLA3 rs738409 SNP on Liver Fibrosis Progression, Portal Hypertension and Hepatic Steatosis in HIV/HCV Coinfection.
26519102 2015 Adiponutrin (PNPLA3) in liver fibrogenesis: Is unaltered HepG2 cell line a better model system compared to murine models?
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