Gene
STAT2
signal transducer and activator of transcription 2
- HGNC 11363↗(opens in a new tab)
- Ensembl gene ENSG00000170581↗(opens in a new tab)
- NCBI Gene 6773↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q13.3
- Coordinates
- Chromosome 12: 56,341,597–56,360,107 (GRCh38)
- Exons
- 24 exons across 18.5 kb
- Protein
- 851 amino acids
- Also known as
- STAT113
- MANE Select transcript
- ENST00000314128.9NM_005419.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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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.
- 2 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.
- 2 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
How STAT2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.4 kb of the gene's 18.5 kb; 2,556 of those bases code for the protein.
How a genome test reads STAT2
30
positions in STAT2 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 18.5 kb of STAT2, introns included, not only the 4.4 kb of exons.
Genes linked to the same conditions
- AICDAactivation induced cytidine deaminaseShares 2 conditions
- ATP6AP1ATPase H+ transporting accessory protein 1Shares 2 conditions
- BCL10BCL10 immune signaling adaptorShares 2 conditions
- BCL11BBCL11 transcription factor BShares 2 conditions
- BLNKB cell linkerShares 2 conditions
- BTKBruton tyrosine kinaseShares 2 conditions
- C1QAcomplement C1q A chainShares 2 conditions
- C1QBcomplement C1q B chainShares 2 conditions
- C1QCcomplement C1q C chainShares 2 conditions
- C1Scomplement C1sShares 2 conditions
- C2complement C2Shares 2 conditions
- C3complement C3Shares 2 conditions
Traits linked to STAT2
The Human Phenotype Ontology lists these as features of the rare conditions STAT2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). STAT2 gene: signal transducer and activator of transcription 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/stat2
Dante Labs. STAT2 gene: signal transducer and activator of transcription 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/stat2
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