Home > Gene Browser > FBXW2
FBXW2
- Synonyms
- FBW2, Fwd2, Md6
- External resources
- NCBI26190
- OMIM609071
- EnsemblENSG00000119402
- HGNCHGNC:13608
- 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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