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BLK

BLK

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

What is the official name of the BLK gene?

The official name of this gene is “B lymphoid tyrosine kinase.”

BLK is the gene's official symbol. The BLK 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 BLK gene?

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

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

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

Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation. Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor. Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207'. Phosphorylates also the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation. In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose.

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

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

Maturity-onset diabetes of the young 11 (MODY11): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations 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 BLK gene.
  • Maturity-onset diabetes of the young, type 11[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 BLK gene located?

Cytogenetic Location: 8p23-p22

Molecular Location on chromosome 8: base pairs 11,494,011 to 11,564,598

The BLK gene is located on the short (p) arm of chromosome 8 between positions 23 and 22.

The BLK gene is located on the short (p) arm of chromosome 8 between positions 23 and 22.

More precisely, the BLK gene is located from base pair 11,494,011 to base pair 11,564,598 on chromosome 8.

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

Where can I find additional information about BLK?

You and your healthcare professional may find the following resources about BLK helpful.

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

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

  • MODY11

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 BLK?

apoptosis ; autosomal ; autosomal dominant ; cell ; cell proliferation ; diabetes ; differentiation ; gene ; glucose ; immunoglobulin ; inheritance ; insulin ; kinase ; lymphocyte ; mode of inheritance ; pancreatic ; Pro ; proliferation ; protein ; receptor ; secretion ; synthesis ; transcription ; Tyr ; 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: April 21, 2014