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CRBN cereblon [ Homo sapiens (human) ]

Gene ID: 51185, updated on 27-Nov-2024

Summary

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Official Symbol
CRBNprovided by HGNC
Official Full Name
cereblonprovided by HGNC
Primary source
HGNC:HGNC:30185
See related
Ensembl:ENSG00000113851 MIM:609262; AllianceGenome:HGNC:30185
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRT2; MRT2A
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. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in testis (RPKM 17.6), brain (RPKM 16.5) and 25 other tissues See more
Orthologs
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Genomic context

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See CRBN in Genome Data Viewer
Location:
3p26.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (3149633..3179717, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (3143956..3174065, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (3191317..3221401, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19343 Neighboring gene uncharacterized LOC124909339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14009 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:3168955-3169685 Neighboring gene interleukin 5 receptor subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14010 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19345 Neighboring gene tRNA nucleotidyl transferase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:3310572-3310785 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69928 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69934 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_69968 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:3600748-3601947 Neighboring gene uncharacterized LOC100130207 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14011 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14013 Neighboring gene Sharpr-MPRA regulatory region 107 Neighboring gene leucine rich repeat neuronal 1 Neighboring gene polyribonucleotide nucleotidyltransferase 1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation. Kowalski TW, et al. Sci Rep, 2020 Jan 21. PMID 31964914, Free PMC Article
  2. A G polymorphism in the CRBN gene acts as a biomarker of response to treatment with lenalidomide in low/int-1 risk MDS without del(5q). Sardnal V, et al. Leukemia, 2013 Jul. PMID 23434730
  3. The clinical significance of cereblon expression in multiple myeloma. Schuster SR, et al. Leuk Res, 2014 Jan. PMID 24129344, Free PMC Article
  4. Multiple cereblon genetic changes are associated with acquired resistance to lenalidomide or pomalidomide in multiple myeloma. Gooding S, et al. Blood, 2021 Jan 14. PMID 33443552, Free PMC Article
  5. Expression of cereblon protein assessed by immunohistochemicalstaining in myeloma cells is associated with superior response of thalidomide- and lenalidomide-based treatment, but not bortezomib-based treatment, in patients with multiple myeloma. Huang SY, et al. Ann Hematol, 2014 Aug. PMID 24687382, Free PMC Article

See all (160) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Thrombospondin-1 is an endogenous substrate of cereblon responsible for immunomodulatory drug-induced thromboembolism.
    Title: Thrombospondin-1 is an endogenous substrate of cereblon responsible for immunomodulatory drug-induced thromboembolism.
  2. Incidence of cereblon protein in intensive care patients: a cross-sectional study.
    Title: Incidence of cereblon protein in intensive care patients: a cross-sectional study.
  3. The E3 ligase adapter cereblon targets the C-terminal cyclic imide degron.
    Title: The E3 ligase adapter cereblon targets the C-terminal cyclic imide degron.
  4. CRBN is downregulated in lung cancer and negatively regulates TLR2, 4 and 7 stimulation in lung cancer cells.
    Title: CRBN is downregulated in lung cancer and negatively regulates TLR2, 4 and 7 stimulation in lung cancer cells.
  5. A proximity biotinylation-based approach to identify protein-E3 ligase interactions induced by PROTACs and molecular glues.
    Title: A proximity biotinylation-based approach to identify protein-E3 ligase interactions induced by PROTACs and molecular glues.
  6. Mutations in CRBN and other cereblon pathway genes are infrequently associated with acquired resistance to immunomodulatory drugs.
    Title: Mutations in CRBN and other cereblon pathway genes are infrequently associated with acquired resistance to immunomodulatory drugs.
  7. Circ_0114428 Regulates Sepsis-Induced Kidney Injury by Targeting the miR-495-3p/CRBN Axis.
    Title: Circ_0114428 Regulates Sepsis-Induced Kidney Injury by Targeting the miR-495-3p/CRBN Axis.
  8. PLZF and its fusion proteins are pomalidomide-dependent CRBN neosubstrates.
    Title: PLZF and its fusion proteins are pomalidomide-dependent CRBN neosubstrates.
  9. Cereblon regulates NK cell cytotoxicity and migration via Rac1 activation.
    Title: Cereblon regulates NK cell cytotoxicity and migration via Rac1 activation.
  10. Cereblon enhancer methylation and IMiD resistance in multiple myeloma.
    Title: Cereblon enhancer methylation and IMiD resistance in multiple myeloma.
Submit: New GeneRIF Correction See all GeneRIFs (82)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 2
MedGen: C1843942 OMIM: 607417 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog
Genome-wide association study of antibody response to smallpox vaccine.
EBI GWAS Catalog
White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC27358, DKFZp781K0715

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane transporter binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in locomotory exploration behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of monoatomic ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Cul4A-RING E3 ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of Cul4A-RING E3 ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein cereblon
Names
protein x 0001

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016864.2 RefSeqGene

    Range
    5027..34707
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001173482.1 → NP_001166953.1  protein cereblon isoform 2

    See identical proteins and their annotated locations for NP_001166953.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AA991754, AC024060, BC067811, DB456585
    Consensus CDS
    CCDS54547.1
    UniProtKB/TrEMBL
    J3QT87
    Related
    ENSP00000412499.2, ENST00000432408.6
    Conserved Domains (2) summary
    cd15777
    Location:320 → 421
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:79 → 316
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

  2. NM_016302.4 → NP_057386.2  protein cereblon isoform 1

    See identical proteins and their annotated locations for NP_057386.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform 1).
    Source sequence(s)
    AC024060, BC017419, BX647351
    Consensus CDS
    CCDS2562.1
    UniProtKB/Swiss-Prot
    B2R6H4, C9IZA9, C9JAH6, Q6AI62, Q6NVZ0, Q96SW2, Q9UHW4
    UniProtKB/TrEMBL
    J3QT87
    Related
    ENSP00000231948.4, ENST00000231948.9
    Conserved Domains (2) summary
    cd15777
    Location:321 → 422
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:80 → 317
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    3149633..3179717 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265202.5 → XP_005265259.1  protein cereblon isoform X2

    See identical proteins and their annotated locations for XP_005265259.1

    UniProtKB/TrEMBL
    B4DW89
    Conserved Domains (3) summary
    cl19481
    Location:12 → 123
    LON; Found in ATP-dependent protease La (LON)
    cd15777
    Location:258 → 359
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:17 → 254
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

  2. XM_011533791.4 → XP_011532093.1  protein cereblon isoform X1

    UniProtKB/TrEMBL
    J3QT87
    Related
    ENSP00000411047.1, ENST00000424814.5
    Conserved Domains (3) summary
    cl19481
    Location:75 → 186
    LON; Found in ATP-dependent protease La (LON)
    cd15777
    Location:321 → 378
    CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
    pfam02190
    Location:80 → 317
    LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

  3. XM_047448254.1 → XP_047304210.1  protein cereblon isoform X4

  4. XM_047448253.1 → XP_047304209.1  protein cereblon isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    3143956..3174065 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346738.1 → XP_054202713.1  protein cereblon isoform X2

  2. XM_054346737.1 → XP_054202712.1  protein cereblon isoform X1

  3. XM_054346740.1 → XP_054202715.1  protein cereblon isoform X4

  4. XM_054346739.1 → XP_054202714.1  protein cereblon isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96SW2.1 GenPept UniProtKB/Swiss-Prot:Q96SW2

Gene LinkOut

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