STAT5B Chromosome 17
Signal transducer and activator of transcription 5B
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What This Gene Does
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]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
17q21.2
Ensembl
ENSG00000173757
Associated Conditions (7)
Growth hormone insensitivity with immune dysregulation 1
autosomal recessive
Inborn genetic diseases
Growth hormone insensitivity syndrome with immune dysregulation 2
autosomal dominant
Neoplasm
Familial prostate cancer
Key Variants
RS1049785980
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS1308669737
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS143171571
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS143172354
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS148793995
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS199645527
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS200200711
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Inborn genetic diseases
Health Risk
RS200299299
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity syndrome with immune dysregulation 2
Health Risk
RS2144296728
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS370072353
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1
Health Risk
RS771507023
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity syndrome with immune dysregulation 2
Health Risk
RS938448224
Conflicting classifications of pathogenicity
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Neoplasm
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1049785980 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS1308669737 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS143171571 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS143172354 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS148793995 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS199645527 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS200200711 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Inborn genetic diseases |
| RS200299299 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity syndrome with immune dysregulation 2 |
| RS2144296728 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS370072353 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS771507023 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity syndrome with immune dysregulation 2 |
| RS938448224 | Health Risk | Conflicting classifications of pathogenicity | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Neoplasm |
| RS1463463495 | Health Risk | Likely pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2508724440 | Health Risk | Likely pathogenic | Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant, Growth hormone insensitivity syndrome with immune dysregulation 2 |
| RS2508732857 | Health Risk | Likely pathogenic | — |
| RS750399917 | Health Risk | Likely pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Familial prostate cancer |
| RS1000458475 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS1156986606 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS1202978138 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS121908501 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS121908502 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS1555548680 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity syndrome with immune dysregulation 2 |
| RS1555549674 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity syndrome with immune dysregulation 2 |
| RS2080191165 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2144219508 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2144267361 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2508698053 | Health Risk | Pathogenic | — |
| RS2508731535 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2508751004 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2508776887 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2508803545 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS2508803926 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS367846125 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS761761205 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS767959957 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |
| RS778995803 | Health Risk | Pathogenic | Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Growth hormone insensitivity with immune dysregulation 1 |