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STAT5B

STAT5B

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

What is the official name of the STAT5B gene?

The official name of this gene is “signal transducer and activator of transcription 5B.”

STAT5B is the gene's official symbol. The STAT5B 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 STAT5B gene?

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

The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]

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

Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription.

How are changes in the STAT5B gene related to health conditions?

Genetics Home Reference provides information about acute promyelocytic leukemia, which is associated with changes in the STAT5B gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the STAT5B gene's known or predicted involvement in human disease.

Growth hormone insensitivity with immunodeficiency (GHII): A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to hexogeneous growth hormone therapy, and recurrent infections. 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 STAT5B gene.
  • Growth hormone insensitivity with immunodeficiency
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the STAT5B gene and its association with health conditions.
OMIM
Number
Title

Where is the STAT5B gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 42,199,176 to 42,276,459

The STAT5B gene is located on the long (q) arm of chromosome 17 at position 11.2.

The STAT5B gene is located on the long (q) arm of chromosome 17 at position 11.2.

More precisely, the STAT5B gene is located from base pair 42,199,176 to base pair 42,276,459 on chromosome 17.

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

Where can I find additional information about STAT5B?

You and your healthcare professional may find the following resources about STAT5B 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 STAT5B gene or gene products?

  • STAT5

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 STAT5B?

acute ; apoptosis ; cell ; cell nucleus ; cytokine ; deficiency ; gene ; gene expression ; growth hormone ; hormone ; hormone therapy ; immunodeficiency ; mutation ; nucleus ; protein ; receptor ; short stature ; signal transduction ; stature ; transcription ; transduction

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 19, 2015