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UFSP2

Synonyms
BHD, C4orf20, SEMDDR
External resources
Summary
This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple 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
7
Likely pathogenic
1
VUS
1,334
Likely benign
436
Benign
1,078

Patient phenotypes

Proportions of phenotypes among 8 patients carring pathogenic or likely pathogenic variants on UFSP2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
62.5%
Abnormality of the musculoskeletal system
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of head or neck
12.5%
Abnormality of the ear
12.5%
Abnormality of the genitourinary system
12.5%
Abnormality of the nervous system
12.5%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
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 endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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