ArticleGenes and immunity2012
The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization.
Article in Genes and immunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 3 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Variants in BANK1 are associated with lupus nephritis of European ancestry.Genes and immunity · 2021Pooled it
- Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia.Nature communications · 2016Pooled it
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.PloS one · 2013Pooled it
- Integrated expression profiling reveals molecular crosstalk between CFTR, FASN, FRAP (mTOR), and BANK1 in hepatocellular carcinoma.Scientific reports · 2026Article
- Posttranslational splicing modifications as a key mechanism in cytarabine resistance in acute myeloid leukemia.Leukemia · 2023Article
- Review
- Alternative Splicing: A New Cause and Potential Therapeutic Target in Autoimmune Disease.Frontiers in immunology · 2021Review
- BANK1 interacts with TRAF6 and MyD88 in innate immune signaling in B cells.Cellular & molecular immunology · 2020Article
- Association ofFrontiers in genetics · 2020Article
- BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2019Article
- Exploring the etiopathogenesis of systemic lupus erythematosus: a genetic perspective.Immunogenetics · 2019Review
- Trans-Ethnic Mapping ofInternational journal of molecular sciences · 2018Article
- Abnormal B Cell Development in Systemic Lupus Erythematosus: What the Genetics Tell Us.Arthritis & rheumatology (Hoboken, N.J.) · 2018Review
- Article
- The BANK1 SLE-risk variants are associated with alterations in peripheral B cell signaling and development in humans.Clinical immunology (Orlando, Fla.) · 2016Article
- Article
- Genetics of Lupus Nephritis: Clinical Implications.Seminars in nephrology · 2015Review
- Multiple Changes of Gene Expression and Function Reveal Genomic and Phenotypic Complexity in SLE-like Disease.PLoS genetics · 2015Article
- Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.American journal of human genetics · 2014Article
- Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations.Current genomics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
Abstract
Numerous loci have been found genetically associated with complex diseases, but only in a few cases has the functional variant and the molecular mechanism behind it been identified. Recently, the association of the BANK1 gene with systemic lupus erythematosus (SLE) was described. Here, we investigated the role of the associated polymorphisms on gene function and found that SNP rs17266594 located in the branch point consensus sequence has negligible effect on splicing or gene expression. The non-synonymous SNP rs10516487 located in exon 2 influenced splicing efficiency by creating an exonic splicing enhancer site for the SRp40 factor. Further, this same SNP generates protein isoforms with differential and measurable self-association properties. The full-length protein isoform containing the R61 variant forms larger protein scaffold complexes in the cell cytoplasm compared with the protective BANK1-61H variant. We also observed that, contrary to the full-length isoforms, the short Δ2 isoform of BANK1 displays a homogeneous cytoplasmic distribution, underscoring the potential role of the exon 2-coded protein domain in the scaffolding function of BANK1. We provide evidence that the non-synonymous SNP rs10516487 (G>A; R61H) shows a dual nature by first, influencing mRNA splicing and consequently the quantity of protein, and, second, by producing a risk variant-containing protein isoform with increased potential for multimerization.
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.