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STXBP2

Synonyms
FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122
External resources
Summary
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
5
VUS
23,253
Likely benign
4,976
Benign
0

Patient phenotypes

Proportions of phenotypes among 20 patients carrying pathogenic or likely pathogenic variants on STXBP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45%
Abnormality of the musculoskeletal system
25%
Abnormality of head or neck
15%
Abnormality of the cardiovascular system
15%
Abnormality of the eye
15%
Abnormality of the integument
15%
Abnormality of the digestive system
10%
Growth abnormality
10%
Abnormal cellular phenotype
5%
Abnormality of blood and blood-forming tissues
5%
Abnormality of limbs
5%
Abnormality of the ear
5%
Abnormality of the endocrine system
5%
Abnormality of the immune system
5%
Neoplasm
5%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the genitourinary system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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