Home > Gene Browser > STAT2

STAT2

Synonyms
IMD44, ISGF-3, P113, PTORCH3, STAT113
External resources
Summary
The protein encoded by this gene is a member of the STAT protein family. 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. In response to interferon (IFN), this protein forms a complex with STAT1 and IFN regulatory factor family protein p48 (ISGF3G), in which this protein acts as a transactivator, but lacks the ability to bind DNA directly. Transcription adaptor P300/CBP (EP300/CREBBP) has been shown to interact specifically with this protein, which is thought to be involved in the process of blocking IFN-alpha response by adenovirus. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
3
Likely pathogenic
1
VUS
5,759
Likely benign
803
Benign
0

Patient Phenotypes

Proportions of phenotypes among 4 patients carrying pathogenic or likely pathogenic variants on STAT2 gene are displayed below. The following symptoms were found in patients with a variant in STAT2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of head or neck
25%
Abnormality of limbs
25%
Abnormality of metabolism homeostasis
25%
Abnormality of the eye
25%
Abnormality of the genitourinary system
25%
Abnormality of the integument
25%
Growth abnormality
25%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes.