Gene Gene information from NCBI Gene database.
Entrez ID 51185
Gene name Cereblon
Gene symbol CRBN
Synonyms (NCBI Gene)
MRT2MRT2A
Chromosome 3
Chromosome location 3p26.2
Summary This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutatio
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs78564552 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant, missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1575094649 G>C Likely-pathogenic Non coding transcript variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT049014 hsa-miR-92a-3p CLASH 23622248
MIRT908238 hsa-let-7a CLIP-seq
MIRT908239 hsa-let-7b CLIP-seq
MIRT908240 hsa-let-7c CLIP-seq
MIRT908241 hsa-let-7d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20223979, 24292623, 25416956, 26131937, 26909574, 31515488, 32296183, 32814053, 35271311
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 20223979
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 20223979
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609262 30185 ENSG00000113851
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96SW2
Protein name Protein cereblon
Protein function 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). Norm
PDB 4M91 , 4TZ4 , 5FQD , 5HXB , 5V3O , 6BN7 , 6BN8 , 6BN9 , 6BNB , 6BOY , 6H0F , 6H0G , 6UML , 6XK9 , 7BQU , 7BQV , 7LPS , 7U8F , 8CVP , 8D7U , 8D7V , 8D7W , 8D7X , 8D7Y , 8D7Z , 8D80 , 8D81 , 8DEY , 8G66 , 8OIZ , 8OJH , 8RQ1 , 8RQ8 , 8RQ9 , 8RQA , 8RQC , 8TNP , 8TNQ , 8TNR , 8TZX , 8U15 , 8U16 , 8U17 , 8UH6 , 9CUO , 9DJT , 9DJX , 9DQD , 9FJX , 9GAO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02190 LON_substr_bdg 80 317 ATP-dependent protease La (LON) substrate-binding domain Family
PF03226 Yippee-Mis18 319 437 Yippee zinc-binding/DNA-binding /Mis18, centromere assembly Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in brain. {ECO:0000269|PubMed:15557513, ECO:0000269|PubMed:17380424}.
Sequence
Sequence length 442
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, autosomal recessive 2 Pathogenic; Likely pathogenic rs1302797003, rs1707782133, rs797045036, rs1575094649, rs1226252969 RCV001334906
RCV001779412
RCV000191075
RCV001328947
RCV001264812
Multiple myeloma Likely pathogenic rs1575079076 RCV000984098
See cases Likely pathogenic rs2126069389 RCV002252831
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign; Likely benign rs151039737 RCV005888029
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign; Likely benign rs151039737 RCV005888030
Colorectal cancer Benign; Likely benign rs151039737 RCV005888027
CRBN-related disorder Likely benign; Benign; Conflicting classifications of pathogenicity rs566932471, rs201974649, rs778178677, rs375905223, rs116847323, rs199720401, rs541404259 RCV003895244
RCV003911609
RCV003949345
RCV003971460
RCV003940672
RCV003940855
RCV003970597
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anophthalmos with limb anomalies Associate 31964914
Attention Deficit Disorder with Hyperactivity Associate 35052433
Auditory Perceptual Disorders Associate 35052433
Cognition Disorders Associate 28143899
Colorectal Neoplasms Associate 35848491
Constipation Associate 31115923
Diarrhea Associate 31115923
Drug Related Side Effects and Adverse Reactions Associate 28529032, 31300418
Erythema Nodosum Associate 36383784
Fetal Diseases Associate 31964914