STAT4 signal transducer and activator of transcription 4
Gene ID: 6775, updated on 16-Apr-2024Gene type: protein coding
Also known as: DPMC; SLEB11
- See all available tests in GTR for this gene
- Go to complete Gene record for STAT4
- Go to Variation Viewer for STAT4 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 essential for mediating responses to IL12 in lymphocytes, and regulating the differentiation of T helper cells. Mutations in this gene may be associated with systemic lupus erythematosus and rheumatoid arthritis. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. GeneReviews: Not available | |
| A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. GeneReviews: Not available | |
| A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. GeneReviews: Not available | |
| Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. GeneReviews: Not available | |
| Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. GeneReviews: Not available | |
| Disabling pansclerotic morphea of childhood | not available |
| Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma. GeneReviews: Not available | |
| Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. GeneReviews: Not available | |
| Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
| Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1. GeneReviews: Not available | |
| Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. GeneReviews: Not available | |
| Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. GeneReviews: Not available | |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. GeneReviews: Not available | |
| Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. GeneReviews: Not available | |
| Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. GeneReviews: Not available | |
| Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. GeneReviews: Not available | |
| GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study. GeneReviews: Not available | |
| Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. GeneReviews: Not available | |
| Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. GeneReviews: Not available | |
| Systemic lupus erythematosus, susceptibility to, 11 | See labs |
Genomic context
- Location:
- 2q32.2-q32.3
- Sequence:
- Chromosome: 2; NC_000002.12 (191029576..191151596, complement)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STAT4 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
- STAT4 database
- Variation ViewerRelated Variants
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