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CBLB

Synonyms
Cbl-b, Nbla00127, RNF56
External resources
Summary
This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections.

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
21
Likely pathogenic
82
VUS
12,604
Likely benign
445
Benign
0

Patient phenotypes

Proportions of phenotypes among 102 patients carring pathogenic or likely pathogenic variants on CBLB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.3%
Abnormality of head or neck
26.5%
Abnormality of the eye
22.5%
Abnormality of the cardiovascular system
21.6%
Abnormality of the musculoskeletal system
21.6%
Abnormality of the ear
14.7%
Growth abnormality
14.7%
Abnormality of limbs
7.8%
Abnormality of the genitourinary system
7.8%
Abnormality of the immune system
7.8%
Abnormality of the integument
6.9%
Abnormality of blood and blood-forming tissues
4.9%
Abnormality of the digestive system
4.9%
Abnormality of prenatal development or birth
2.9%
Abnormality of the respiratory system
2.9%
Abnormality of the endocrine system
2%
Constitutional symptom
1%
Neoplasm
1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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