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THBS3

Synonyms
TSP3
External resources
Summary
The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants.

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
22
Likely pathogenic
0
VUS
3,860
Likely benign
292
Benign
0

Patient Phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on THBS3 gene are displayed below. The following symptoms were found in patients with a variant in THBS3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
45.5%
Abnormality of the nervous system
31.8%
Abnormality of the digestive system
18.2%
Abnormality of the endocrine system
18.2%
Abnormality of the eye
18.2%
Constitutional symptom
18.2%
Neoplasm
18.2%
Abnormality of head or neck
13.6%
Abnormality of the musculoskeletal system
13.6%
Abnormality of blood and blood forming tissues
9.1%
Abnormality of limbs
9.1%
Growth abnormality
9.1%
Abnormality of metabolism homeostasis
4.5%
Abnormality of the breast
4.5%
Abnormality of the ear
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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