STAT5A signal transducer and activator of transcription 5A
Gene ID: 6776, updated on 11-Apr-2024Gene type: protein coding
Also known as: MGF; STAT5
- See all available tests in GTR for this gene
- Go to complete Gene record for STAT5A
- Go to Variation Viewer for STAT5A variants
Summary
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 is activated by, and mediates the responses of many cell ligands, such as IL2, IL3, IL7 GM-CSF, erythropoietin, thrombopoietin, and different growth hormones. Activation of this protein in myeloma and lymphoma associated with a TEL/JAK2 gene fusion is independent of cell stimulus and has been shown to be essential for tumorigenesis. The mouse counterpart of this gene is found to induce the expression of BCL2L1/BCL-X(L), which suggests the antiapoptotic function of this gene in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available |
Genomic context
- Location:
- 17q21.2
- Sequence:
- Chromosome: 17; NC_000017.11 (42287439..42311943)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STAT5A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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