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Gene

STAT3

signal transducer and activator of transcription 3

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 42,313,324–42,388,442 (GRCh38)
Exons
24 exons across 75.1 kb
Protein
770 amino acids
Also known as
APRF
MANE Select transcript
ENST00000264657.10NM_139276.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

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
      • 4 GenCC submitters rate it definitive or strong

  • Hyper-IgE Syndrome

    • A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.

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

  • STAT1 and STAT3 Gain-of-Function Disease

    • STAT3 gain-of-function diseaseAutosomal dominant

      Early-onset autoimmunity affecting the gut, blood, endocrine glands and lungs, with lymphoproliferation and poor growth, caused by an activating STAT3 change.

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

      JAK inhibitors and IL-6 blockade can control disease, and a genetic diagnosis guides the choice of therapy.

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
      • 4 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
      Actionability

      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

How STAT3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where STAT3 sits. STAT3 and 40 genes near it on chromosome 17, from 41,850,883 to 42,850,882.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.342 Mb42.2 Mb42.4 Mb42.6 Mb42.8 MbKLHL11: 41,848,513–41,865,430, reverse strandKLHL11ACLY: 41,866,916–41,930,551, reverse strandACLYODAD4: 41,930,599–41,966,503, forward strandODAD4CNP: 41,966,729–41,977,740, forward strandCNPDNAJC7: 41,974,005–42,021,376, reverse strandDNAJC7NKIRAS2: 42,011,382–42,025,644, forward strandNKIRAS2ZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113DHX58: 42,101,404–42,112,735, reverse strandKAT2A: 42,113,109–42,121,382, reverse strand: 42,119,674–42,154,916, reverse strandHSPB9: 42,122,804–42,123,352, forward strandHSPB9RAB5C: 42,124,976–42,155,044, reverse strandRAB5CKCNH4: 42,156,891–42,181,146, reverse strandKCNH4HCRT: 42,184,060–42,185,452, reverse strandHCRTGHDC: 42,188,799–42,194,513, reverse strandGHDCSTAT5B: 42,199,176–42,288,633, reverse strandSTAT5BSTAT5A: 42,287,547–42,311,943, forward strandSTAT5ASTAT3: 42,313,324–42,388,442, reverse strandSTAT3CAVIN1: 42,402,449–42,423,322, reverse strandCAVIN1ATP6V0A1: 42,458,823–42,522,582, forward strandATP6V0A1NAGLU: 42,536,216–42,544,449, forward strandNAGLUHSD17B1: 42,552,920–42,555,217, forward strandHSD17B1COASY: 42,561,467–42,566,277, forward strandCOASYMLX: 42,567,067–42,573,239, forward strandMLXPSMC3IP: 42,572,310–42,577,831, reverse strandRETREG3: 42,579,508–42,610,623, reverse strandTUBG1: 42,609,411–42,615,253, forward strandTUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1RAMP2: 42,758,447–42,763,537, forward strandRAMP2VPS25: 42,773,439–42,779,600, forward strandVPS25WNK4: 42,780,593–42,797,066, forward strandWNK4COA3: 42,793,154–42,798,719, reverse strandCOA3CNTD1: 42,798,800–42,811,587, forward strandBECN1: 42,809,108–42,833,350, reverse strandBECN1PSME3: 42,824,385–42,843,760, forward strandAOC2: 42,844,574–42,850,707, forward strandAOC2Diagram of STAT3: 24 exons on the reverse strand of chromosome 17Exon 23: 1 known disease-causing siteExon 22: 14 known disease-causing sitesExon 21: 11 known disease-causing sitesExon 20: 7 known disease-causing sitesExon 19: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 16: 2 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 4 known disease-causing sitesExon 13: 6 known disease-causing sitesExon 11: 1 known disease-causing siteExon 10: 4 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 24: 42,313,324–42,315,800, 2,477 basesExon 23: 42,316,789–42,316,901, 113 basesExon 22: 42,317,182–42,317,224, 43 basesExon 21: 42,322,282–42,322,494, 213 basesExon 20: 42,323,004–42,323,143, 140 basesExon 19: 42,323,260–42,323,354, 95 basesExon 18: 42,323,573–42,323,625, 53 basesExon 17: 42,324,711–42,324,846, 136 basesExon 16: 42,324,963–42,325,061, 99 basesExon 15: 42,326,116–42,326,199, 84 basesExon 14: 42,329,410–42,329,457, 48 basesExon 13: 42,329,554–42,329,647, 94 basesExon 12: 42,329,747–42,329,776, 30 basesExon 11: 42,331,472–42,331,531, 60 basesExon 10: 42,333,673–42,333,765, 93 basesExon 9: 42,333,891–42,334,049, 159 basesExon 8: 42,337,435–42,337,586, 152 basesExon 7: 42,337,763–42,337,857, 95 basesExon 6: 42,338,731–42,338,812, 82 basesExon 5: 42,339,314–42,339,409, 96 basesExon 4: 42,345,559–42,345,657, 99 basesExon 3: 42,346,569–42,346,713, 145 basesExon 2: 42,348,389–42,348,539, 151 basesExon 1: 42,388,279–42,388,442, 164 bases24201510515′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 4.9 kb of the gene's 75.1 kb; 2,313 of those bases code for the protein.

Sequencing STAT3

63

positions in STAT3 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 75.1 kb of STAT3, introns included, not only the 4.9 kb of exons.

Genes linked to the same conditions

Traits linked to STAT3

The Human Phenotype Ontology lists these as features of the rare conditions STAT3 can cause. Each trait's page lists the other genes linked to it.

External links

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.). STAT3 gene: signal transducer and activator of transcription 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/stat3

Vancouver

Dante Labs. STAT3 gene: signal transducer and activator of transcription 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/stat3

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