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FBXW2

Synonyms
FBW2, Fwd2, Md6
External resources
Summary
F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats.

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
77
Likely pathogenic
6
VUS
5,515
Likely benign
7,814
Benign
0

Patient phenotypes

Proportions of phenotypes among 83 patients carrying pathogenic or likely pathogenic variants on FBXW2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.3%
Abnormality of the cardiovascular system
22.9%
Abnormality of the eye
22.9%
Abnormality of head or neck
21.7%
Abnormality of the musculoskeletal system
21.7%
Abnormality of the ear
15.7%
Abnormality of limbs
10.8%
Abnormality of the genitourinary system
10.8%
Growth abnormality
9.6%
Abnormality of blood and blood-forming tissues
8.4%
Abnormality of the immune system
7.2%
Abnormality of the endocrine system
6%
Abnormality of the integument
3.6%
Abnormality of the respiratory system
3.6%
Neoplasm
3.6%
Abnormality of the digestive system
1.2%
Abnormality of the voice
1.2%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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