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Gene

STAT1

signal transducer and activator of transcription 1

Summary

Cytogenetic location
2q32.2
Coordinates
Chromosome 2: 190,969,149–191,014,171 (GRCh38)
Exons
25 exons across 45 kb
Protein
750 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
STAT91, ISGF-3
MANE Select transcript
ENST00000361099.8NM_007315.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Autoimmune Disease

    • A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

  • Chronic Mucocutaneous Candidiasis

    • Persistent or recurrent Candida infections of the skin, nails and mucous membranes caused by changes in genes such as STAT1, IL17RA, IL17RC, IL17F and TRAF3IP2.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the cause guides long-term antifungal treatment and, for STAT1 gain-of-function, monitoring for autoimmunity and aneurysms and consideration of targeted JAK-inhibitor therapy.

  • Mendelian Susceptibility to Mycobacterial Disease (MSMD)

    • Complete STAT1 deficiencyAutosomal recessive

      Severe mycobacterial and life-threatening viral infections caused by changes in both copies of STAT1.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Stem cell transplantation is usually needed.

    • Mendelian susceptibility to mycobacterial disease

      Inherited defects in the IL-12/interferon-gamma pathway, caused by genes such as IL12RB1, IL12B, IFNGR1, IFNGR2, STAT1, IRF8, ISG15 and RORC.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Affected people and at-risk relatives should avoid BCG and other live vaccines, infections need prolonged treatment, and some forms respond to interferon-gamma.

  • STAT1 and STAT3 Gain-of-Function Disease

    • STAT1 gain-of-function disease with autoimmunityAutosomal dominant

      Enteropathy, endocrine autoimmunity, bacterial and fungal infections and short stature caused by an activating STAT1 change.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      JAK inhibitors can control symptoms, and monitoring for aneurysms and infections is advised.

Broader groupings

  • Other Inborn Errors of Immunity

    • Inborn error of immunity

      One of 114 genes linked to it

      Inherited disorders of the immune system caused by changes in single genes, affecting how the body fights infection or regulates inflammation.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Immunodeficiency Disease

      One of 170 genes linked to it

      Disease in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      HSCT for SCID and severe PIDs; immunoglobulin replacement (IVIG/SCIG) for antibody deficiencies; leniolisib (Joenja, FDA 2023) for APDS; gene therapy for ADA-SCID; abatacept for CTLA4/LRBA deficiency; prophylactic antibiotics; G-CSF for CGD

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How STAT1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where STAT1 sits. STAT1 and 6 genes near it on chromosome 2, from 190,491,660 to 191,491,659.Chromosome 22q32.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3190.6 Mb190.8 Mb191 Mb191.2 Mb191.4 MbMFSD6: 190,407,896–190,509,205, forward strandMFSD6NEMP2: 190,434,216–190,534,787, reverse strandNEMP2NAB1: 190,646,746–190,695,528, forward strandNAB1GLS: 190,880,322–190,965,552, forward strandGLSSTAT1: 190,969,149–191,014,171, reverse strandSTAT1STAT4: 191,029,570–191,178,435, reverse strandSTAT4MYO1B: 191,245,064–191,425,820, forward strandMYO1BDiagram of STAT1: 25 exons on the reverse strand of chromosome 2Exon 23: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 20: 2 known disease-causing sitesExon 17: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 15: 2 known disease-causing sitesExon 14: 9 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 10: 15 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 8: 1 known disease-causing siteExon 7: 5 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 25: 190,969,149–190,970,717, 1,569 basesExon 24: 190,974,830–190,974,932, 103 basesExon 23: 190,975,812–190,975,887, 76 basesExon 22: 190,976,840–190,977,025, 186 basesExon 21: 190,978,856–190,979,001, 146 basesExon 20: 190,979,772–190,979,866, 95 basesExon 19: 190,980,620–190,980,669, 50 basesExon 18: 190,982,383–190,982,518, 136 basesExon 17: 190,983,642–190,983,740, 99 basesExon 16: 190,984,310–190,984,393, 84 basesExon 15: 190,985,619–190,985,660, 42 basesExon 14: 190,986,854–190,986,947, 94 basesExon 13: 190,987,039–190,987,068, 30 basesExon 12: 190,989,615–190,989,674, 60 basesExon 11: 190,991,228–190,991,320, 93 basesExon 10: 190,995,061–190,995,219, 159 basesExon 9: 190,997,856–190,998,007, 152 basesExon 8: 190,998,217–190,998,308, 92 basesExon 7: 190,999,626–190,999,704, 79 basesExon 6: 191,001,074–191,001,163, 90 basesExon 5: 191,007,563–191,007,661, 99 basesExon 4: 191,008,963–191,009,107, 145 basesExon 3: 191,009,876–191,010,004, 129 basesExon 2: 191,013,525–191,013,678, 154 basesExon 1: 191,014,018–191,014,171, 154 bases25201510515′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.1 kb of the gene's 45 kb; 2,253 of those bases code for the protein.

How a genome test reads STAT1

66

positions in STAT1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 45 kb of STAT1, introns included, not only the 4.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). STAT1 gene: signal transducer and activator of transcription 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/stat1

Vancouver

Dante Labs. STAT1 gene: signal transducer and activator of transcription 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/stat1

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