BANK1 Chromosome 4
B cell scaffold protein with ankyrin repeats 1
Upload your DNA to see your personal genotypes for variants in BANK1.
What This Gene Does
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. [provided by RefSeq, Oct 2009]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000153064
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS35484557 | Health Risk | Conflicting classifications of pathogenicity | — |