Gene: UBASH3A
Alternate names for this Gene: CLIP4|STS-2|TULA|TULA-1
Gene Summary: This gene encodes one of two family members belonging to the T-cell ubiquitin ligand (TULA) family. Both family members can negatively regulate T-cell signaling. This family member can facilitate growth factor withdrawal-induced apoptosis in T cells, which may occur via its interaction with AIF, an apoptosis-inducing factor. Alternative splicing of this gene results in multiple transcript variants.
Gene is located in Chromosome: 21
Location in Chromosome : 21q22.3
Description of this Gene: ubiquitin associated and SH3 domain containing A
Type of Gene: protein-coding
rs12482947 in
UBASH3A gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12482947 in
UBASH3A gene and
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12482947 in
UBASH3A gene and
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1893592 in
UBASH3A gene and
Ankylosing spondylitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs3788013 in
UBASH3A gene and
Autoantibody measurement
PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
rs11203203 in
UBASH3A 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.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1893592 in
UBASH3A gene and
Celiac Disease
PMID 22057235 2011 Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.
rs1893592 in
UBASH3A gene and
Cholangitis, Sclerosing
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.
rs1893592 in
UBASH3A gene and
Crohn Disease
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs11203202 in
UBASH3A gene and
Diabetes Mellitus, Insulin-Dependent
PMID 25751624 2015 Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.
PMID 21980299 2011 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
PMID 19430480 2009 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
PMID 21829393 2011 Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
PMID 18840781 2009 Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
rs12483051 in
UBASH3A gene and
Eosinophil count procedure
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs12482947 in
UBASH3A gene and
Hypothyroidism
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs11203203 in
UBASH3A 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.
rs9976767 in
UBASH3A gene and
Multiple Sclerosis
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
rs11203203 in
UBASH3A gene and
Primary sclerosing cholangitis
PMID 23603763 2013 Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.
rs1893592 in
UBASH3A gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs1893592 in
UBASH3A gene and
Rheumatoid Arthritis
PMID 26546613 2016 Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis.
PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.
PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.
rs1893592 in
UBASH3A gene and
Ulcerative Colitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs11203203 in
UBASH3A gene and
Vitiligo
PMID 20410501 2010 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
PMID 22561518 2012 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
PMID 21326295 2011 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.