GENE REFERENCE / HGNC:11362

STAT1

signal transducer and activator of transcription 1

protein-coding gene2q32.2Gene information

What does this gene do?

The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida. When the immune system recognizes Candida, it generates cells called Th17 cells. These cells produce signaling molecules (cytokines) called the interleukin-17 (IL-17) family as part of an immune process called the IL-17 pathway. The IL-17 pathway creates inflammation, sending other cytokines and white blood cells that fight foreign invaders and promote tissue repair. In addition, the IL-17 pathway promotes the production of certain antimicrobial protein segments (peptides) that control growth of Candida on the surface of mucous membranes.

The STAT1 protein helps keep the immune system in balance by controlling the IL-17 pathway. When the STAT1 protein is turned on (activated), it blocks (inhibits) this pathway.

In contrast to its inhibitory role in the IL-17 pathway, the STAT1 protein helps promote other immune processes called the interferon-alpha/beta (IFNA/B) and interferon-gamma (IFNG) signaling pathways. The IFNA/B pathway is important in defense against viruses, and the IFNG pathway helps fight a type of bacteria called mycobacteria, which includes the bacterium that causes tuberculosis.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-05-02. Source review: 2016-09.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
immunodeficiency 31BMONDO:0013427 · Evaluated 2024-10-06	Autosomal recessive	DefinitivePrimary Immune Regulatory Disorders Gene Curation Expert Panel
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiencyMONDO:0013956 · Evaluated 2024-11-20	Autosomal dominant	DefinitivePrimary Immune Regulatory Disorders Gene Curation Expert Panel
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndromeMONDO:0013599 · Evaluated 2024-12-17	Autosomal dominant	DefinitivePrimary Immune Regulatory Disorders Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 863
Submissions for variants in or overlapping this gene: 1,287
Submissions explicitly reporting this gene: 1,243
Alleles reported pathogenic / likely pathogenic: 106
VariationIDs with uncertain significance: 281
VariationIDs with conflicting classifications: 27

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about STAT1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 106 alleles in STAT1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in STAT1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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