AlphaFold predicted structure
CRBN · Q96SW2
Mean pLDDT
86.6/ 100
Confident
442 residues
Confidence breakdown
- Very high(≥ 90)72%
- Confident(70–90)14%
- Low(50–70)6%
- Very low(< 50)9%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CRBN
Chr 3p26.2cereblon
- Aliases:
- MRT2
- MANE:
- ENST00000231948.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Moderate Evidence (Amber)
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
plasma cell myeloma
0.68autosomal recessive non-syndromic intellectual disability
0.60myelodysplastic syndrome
0.57congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
0.57follicular lymphoma
0.57mantle cell lymphoma
0.56retinitis pigmentosa and erythrocytic microcytosis
0.51immune system disorder
0.50anemia
0.49hereditary disease
0.47
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Protein cereblon
Substrate recognition component of a DCX (DDB1-CUL4-X-box) E3 protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as MEIS2, ILF2 or GLUL (PubMed:26990986, PubMed:33009960). Normal degradation of key regulatory proteins is required for normal limb outgrowth and expression of the fibroblast growth factor FGF8 (PubMed:20223979, PubMed:24328678, PubMed:25043012, PubMed:25108355). Maintains presynaptic glutamate release and consequently cognitive functions, such as memory and learning, by negatively regulating large-conductance calcium-activated potassium (BK) channels in excitatory neurons (PubMed:18414909, PubMed:29530986). Likely to function by regulating the assembly and neuronal surface expression of BK channels via its interaction with KCNT1 (PubMed:18414909). May also be involved in regulating anxiety-like behaviors via a BK channel-independent mechanism (By similarity). Plays a negative role in TLR4 signaling by interacting with TRAF6 and ECSIT, leading to inhibition of ECSIT ubiquitination, an important step of the signaling (PubMed:31620128)
Diseases associated with CRBN
Curated MONDO disease pages that list CRBN among their top associated genes.