Gene: STAT5B

Alternate names for this Gene: GHISID2|STAT5

Gene 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 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.2

Description of this Gene: signal transducer and activator of transcription 5B

Type of Gene: protein-coding

rs7207591 in STAT5B gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

rs8066625 in STAT5B gene and Childhood asthma PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs12150495 in STAT5B gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908501 in STAT5B gene and Laron syndrome type 2 PMID 22419735 2012 A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease.

PMID 13679528 2003 Growth hormone insensitivity associated with a STAT5b mutation.

PMID 15827093 2005 Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b.

PMID 16787985 2006 Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation.

rs11079041 in STAT5B gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.