Gene: PPP1R16B
Alternate names for this Gene: ANKRD4|TIMAP
Gene Summary: The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein.
Gene is located in Chromosome: 20
Location in Chromosome : 20q11.23
Description of this Gene: protein phosphatase 1 regulatory subunit 16B
Type of Gene: protein-coding
rs10392 in
PPP1R16B gene and
Alcohol-Induced Disorders
PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
rs10392 in
PPP1R16B gene and
Alcohol-Related Disorders
PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
rs10392 in
PPP1R16B gene and
Alcoholic Intoxication, Chronic
PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
rs208814 in
PPP1R16B gene and
Diverticular Diseases
PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.
rs6065094 in
PPP1R16B gene and
Intelligence
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
rs10392 in
PPP1R16B gene and
Liver Cirrhosis, Alcoholic
PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
rs10392 in
PPP1R16B gene and
Pancreatitis, Alcoholic
PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
rs10392 in
PPP1R16B gene and
Portal cirrhosis
PMID 28714907 2017 Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.
rs6065094 in
PPP1R16B gene and
Schizophrenia
PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.
PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.
PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.