STAT4 Chromosome 2
Signal transducer and activator of transcription 4
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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 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]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
2q32.2-q32.3
Ensembl
ENSG00000138378
Associated Conditions (5)
STAT4-related disorder
Disabling pansclerotic morphea of childhood
Systemic lupus erythematosus
susceptibility to
11
Key Variants
RS140675301
Conflicting classifications of pathogenicity
STAT4-related disorder, STAT4-related disorder
Health Risk
RS141331848
Conflicting classifications of pathogenicity
STAT4-related disorder, STAT4-related disorder
Health Risk
RS146386562
Conflicting classifications of pathogenicity
Health Risk
RS548245892
Conflicting classifications of pathogenicity
Health Risk
RS750095435
Conflicting classifications of pathogenicity
Health Risk
RS780454944
Conflicting classifications of pathogenicity
Health Risk
RS2470644258
Likely pathogenic
Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood
Health Risk
RS2470644108
Pathogenic
Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood
Health Risk
RS2470644386
Pathogenic
Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood
Health Risk
RS7574865
risk factor
Systemic lupus erythematosus, susceptibility to, 11
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140675301 | Health Risk | Conflicting classifications of pathogenicity | STAT4-related disorder, STAT4-related disorder |
| RS141331848 | Health Risk | Conflicting classifications of pathogenicity | STAT4-related disorder, STAT4-related disorder |
| RS146386562 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS548245892 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750095435 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780454944 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2470644258 | Health Risk | Likely pathogenic | Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood |
| RS2470644108 | Health Risk | Pathogenic | Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood |
| RS2470644386 | Health Risk | Pathogenic | Disabling pansclerotic morphea of childhood, Disabling pansclerotic morphea of childhood |
| RS7574865 | Health Risk | risk factor | Systemic lupus erythematosus, susceptibility to, 11 |