CBLB Chromosome 3

Cbl proto-oncogene B
3 variants 3 Health Risk

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What This Gene Does
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. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
3q13.11
Ensembl
ENSG00000114423
Associated Conditions (4)
Autoimmune disease
multisystem
infantile-onset
3
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS2152826353 Health Risk Pathogenic Autoimmune disease, multisystem, infantile-onset
RS2546956921 Health Risk Pathogenic Autoimmune disease, multisystem, infantile-onset
RS535219619 Health Risk Pathogenic Autoimmune disease, multisystem, infantile-onset
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