Gene: BANK1
Alternate names for this Gene: BANK
Gene Summary: The protein encoded by this gene is a B-cell-specific scaffold protein that functions in B-cell receptor-induced calcium mobilization from intracellular stores. This protein can also promote Lyn-mediated tyrosine phosphorylation of inositol 1,4,5-trisphosphate receptors. Polymorphisms in this gene are associated with susceptibility to systemic lupus erythematosus. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 4
Location in Chromosome : 4q24
Description of this Gene: B cell scaffold protein with ankyrin repeats 1
Type of Gene: protein-coding
rs13107612 in
BANK1 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.
rs17031508 in
BANK1 gene and
Blood Pressure
PMID 22763476 2012 Genome-wide linkage and association scans for pulse pressure in Chinese twins.
rs10516491 in
BANK1 gene and
Body Height
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
rs6846071 in
BANK1 gene and
C-reactive protein measurement
PMID 22788528 2013 Genetic associations with C-reactive protein level and white blood cell count in the KARE study.
rs13127398 in
BANK1 gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs13107612 in
BANK1 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.
rs10028805 in
BANK1 gene and
Chronic Lymphocytic Leukemia
PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.
PMID 28165464 2017 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
rs13107612 in
BANK1 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.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
rs17248480 in
BANK1 gene and
Diastolic blood pressure
PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
rs13109404 in
BANK1 gene and
Duration of sleep
PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.
PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.
rs17199964 in
BANK1 gene and
High density lipoprotein measurement
PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.
rs13126505 in
BANK1 gene and
Inflammatory Bowel Diseases
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
rs13126505 in
BANK1 gene and
Intelligence
PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
rs17199964 in
BANK1 gene and
Low density lipoprotein cholesterol measurement
PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.
rs10028805 in
BANK1 gene and
Lupus Erythematosus, Systemic
PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.
PMID 18204447 2008 In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1.
PMID 18204447 2008 Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.
rs10516487 in
BANK1 gene and
Multiple Sclerosis
PMID 22190364 2011 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
rs34061204 in
BANK1 gene and
Platelet mean volume determination (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs13107612 in
BANK1 gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs17199964 in
BANK1 gene and
Serum total cholesterol measurement
PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.
rs10028805 in
BANK1 gene and
Small Lymphocytic Lymphoma
PMID 26956414 2016 Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.
PMID 28165464 2017 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.
rs17248480 in
BANK1 gene and
Systolic Pressure
PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.
rs17199964 in
BANK1 gene and
Triglycerides measurement
PMID 30289880 2018 Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.
rs13107612 in
BANK1 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.
rs6846071 in
BANK1 gene and
White Blood Cell Count procedure
PMID 22788528 2013 Genetic associations with C-reactive protein level and white blood cell count in the KARE study.