Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51185
Gene name Gene Name - the full gene name approved by the HGNC.
Cereblon
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRBN
Synonyms (NCBI Gene) Gene synonyms aliases
MRT2, MRT2A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p26.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20223979, 25416956, 26131937, 26909574, 31515488, 32296183, 32814053
GO:0005634 Component Nucleus IDA 20223979
GO:0005737 Component Cytoplasm IDA 20223979
GO:0016020 Component Membrane IEA
GO:0016567 Process Protein ubiquitination IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609262 30185 ENSG00000113851
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anencephaly Cranioschisis rs773607884 27751757
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs786205019
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Asthma Asthma GWAS
Bipolar Disorder Bipolar Disorder GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Associations from Text Mining
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