CBLB Cbl proto-oncogene B
Gene ID: 868, updated on 3-Apr-2024Gene type: protein coding
Also known as: Cbl-b; RNF56; ADMIO3; Nbla00127
- See all available tests in GTR for this gene
- Go to complete Gene record for CBLB
- Go to Variation Viewer for CBLB variants
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. [provided by RefSeq, Sep 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autoimmune disease, multisystem, infantile-onset, 3 | not available |
| Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 3q13.11
- Sequence:
- Chromosome: 3; NC_000003.12 (105655461..105869449, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CBLB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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