STAT6 signal transducer and activator of transcription 6
Gene ID: 6778, updated on 27-Aug-2024Gene type: protein coding
Also known as: HIES6; STAT6B; STAT6C; D12S1644; IL-4-STAT
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- Go to complete Gene record for STAT6
- Go to Variation Viewer for STAT6 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 plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2) cells, expression of cell surface markers, and class switch of immunoglobulins. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study. GeneReviews: Not available | |
| Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available | |
| Common variants at 5q22 associate with pediatric eosinophilic esophagitis. GeneReviews: Not available | |
| Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy. GeneReviews: Not available | |
| GWAS identifies four novel eosinophilic esophagitis loci. GeneReviews: Not available | |
| Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections | not available |
| Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. GeneReviews: Not available |
Genomic context
- Location:
- 12q13.3
- Sequence:
- Chromosome: 12; NC_000012.12 (57095408..57111362, complement)
- Total number of exons:
- 23
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STAT6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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