Gene: TNPO3

Alternate names for this Gene: IPO12|LGMD1F|LGMDD2|MTR10A|TRN-SR|TRN-SR2|TRNSR

Gene Summary: The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Several protein-coding and non-coding transcript variants have been found for this gene.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: transportin 3

Type of Gene: protein-coding

rs6961014 in TNPO3 gene and Age at menopause PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10488631 in TNPO3 gene and Autoimmune Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs10488631 in TNPO3 gene and Biliary cirrhosis PMID 19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

rs10488631 in TNPO3 gene and Diffuse Scleroderma PMID 29293537 2018 Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

rs10488631 in TNPO3 gene and Immune System Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs10239340 in TNPO3 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

PMID 21408207 2011 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.

PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

PMID 18204098 2008 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

PMID 23053960 2012 Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.

PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.

PMID 26606652 2016 Genome-Wide Association Study in an Amerindian Ancestry Population Reveals Novel Systemic Lupus Erythematosus Risk Loci and the Role of European Admixture.

PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs12155080 in TNPO3 gene and Lymphocyte Count measurement PMID 22286170 2012 The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

rs587777431 in TNPO3 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F PMID 31071488 2019 A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

PMID 31192305 2019 Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression.

PMID 23543484 2013 Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

PMID 31465518 2019 The mutation of Transportin 3 gene that causes limb girdle muscular dystrophy 1F induces protection against HIV-1 infection.

PMID 23667635 2013 Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

rs10488631 in TNPO3 gene and Multiple Sclerosis PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.

rs13238352 in TNPO3 gene and Myositis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs10488631 in TNPO3 gene and Primary biliary cirrhosis PMID 22936693 2012 Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.

PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

PMID 19458352 2009 Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.

PMID 22961000 2012 Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.

PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

rs10488631 in TNPO3 gene and Rheumatoid Arthritis PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

PMID 20453842 2010 Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

PMID 27193031 2017 A combined large-scale meta-analysis identifies COG6 as a novel shared risk locus for rheumatoid arthritis and systemic lupus erythematosus.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs10488631 in TNPO3 gene and Scleroderma, Limited PMID 29293537 2018 Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

rs17339836 in TNPO3 gene and Sjogren's Syndrome PMID 24097067 2013 Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

rs10488631 in TNPO3 gene and Systemic Scleroderma PMID 21750679 2011 Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.

PMID 30247649 2019 Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study.

PMID 20383147 2010 Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

PMID 21779181 2011 Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.

PMID 29293537 2018 Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.

PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

PMID 31672989 2019 GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.

PMID 24387989 2014 Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis.