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BANK1

BANK1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the BANK1 gene?

The official name of this gene is “B-cell scaffold protein with ankyrin repeats 1.”

BANK1 is the gene's official symbol. The BANK1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the BANK1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Involved in B-cell receptor (BCR)-induced Ca(2+) mobilization from intracellular stores. Promotes Lyn-mediated phosphorylation of IP3 receptors 1 and 2.

How are changes in the BANK1 gene related to health conditions?

Genetics Home Reference provides information about these conditions associated with changes in the BANK1 gene:
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the BANK1 gene's known or predicted involvement in human disease.

Systemic lupus erythematosus (SLE): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.[1]This link leads to a site outside Genetics Home Reference. Disease susceptibility is associated with variations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the BANK1 gene.
  • Systemic lupus erythematosus[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the BANK1 gene located?

Cytogenetic Location: 4q24

Molecular Location on chromosome 4: base pairs 101,790,606 to 102,074,811

The BANK1 gene is located on the long (q) arm of chromosome 4 at position 24.

The BANK1 gene is located on the long (q) arm of chromosome 4 at position 24.

More precisely, the BANK1 gene is located from base pair 101,790,606 to base pair 102,074,811 on chromosome 4.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about BANK1?

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the BANK1 gene or gene products?

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding BANK1?

alternative splicing ; autoimmune ; bone marrow ; Ca ; calcium ; cell ; chronic ; connective tissue ; erythrocyte ; etiology ; gene ; intracellular ; lupus ; phosphorylation ; protein ; receptor ; SLE ; splicing ; susceptibility ; systemic lupus ; systemic lupus erythematosus ; tissue ; transcript ; tyrosine

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 7, 2014