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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

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
34
Likely pathogenic
130
VUS
15,074
Likely benign
2,461
Benign
0

Patient phenotypes

Proportions of phenotypes among 163 patients carrying pathogenic or likely pathogenic variants on CBLB gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
32.5%
Abnormality of the cardiovascular system
30.7%
Abnormality of head or neck
20.2%
Abnormality of the musculoskeletal system
19.6%
Abnormality of the eye
16%
Abnormality of the ear
12.9%
Growth abnormality
12.9%
Abnormality of the genitourinary system
9.8%
Abnormality of limbs
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
5.5%
Abnormality of the digestive system
4.9%
Abnormality of prenatal development or birth
4.3%
Abnormality of blood and blood-forming tissues
3.7%
Abnormality of the respiratory system
3.7%
Abnormality of the endocrine system
2.5%
Constitutional symptom
0.6%
Neoplasm
0.6%
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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