B-Cell Scaffold Protein with Ankyrin Repeats 1

Alternative Names

  • BANK1
  • FLJ20706
  • BANK
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OMIM Number

610292

NCBI Gene ID

55024

Uniprot ID

Q8NDB2

Length

284,083 bases

No. of Exons

18

No. of isoforms

4

Protein Name

B-cell scaffold protein with ankyrin repeats

Molecular Mass

89282 Da

Amino Acid Count

785

Genomic Location

chr4:101,790,729-102,074,811

Gene Map Locus
4q24

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NG_015824.1:g.2234C>AUnited Arab EmiratesNC_000004.12:g.101787840C>ANG_015824.1:g.2234C>A; NG_015824.1:g.2234C>A7377083
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