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    CRBN cereblon [ Homo sapiens (human) ]

    Gene ID: 51185, updated on 7-Jul-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CRBN in Genome Data Viewer
    Location:
    3p26.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (3149633..3179717, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (3143956..3174065, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Intellectual disability, autosomal recessive 2
    MedGen: C1843942 OMIM: 607417 GeneReviews: Not available
    Compare labs

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    Preferred Names
    protein cereblon
    Names
    protein x 0001

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001173482.1NP_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:320421
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:79316
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
    2. NM_016302.4NP_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:321422
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:80317
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_005265202.5XP_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:12123
      LON; Found in ATP-dependent protease La (LON)
      cd15777
      Location:258359
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:17254
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
    2. XM_011533791.4XP_011532093.1  protein cereblon isoform X1

      UniProtKB/TrEMBL
      J3QT87
      Related
      ENSP00000411047.1, ENST00000424814.5
      Conserved Domains (3) summary
      cl19481
      Location:75186
      LON; Found in ATP-dependent protease La (LON)
      cd15777
      Location:321378
      CRBN_C_like; Thalidomide-binding C-terminal domain of cereblon (CRBN) and similar protein domains
      pfam02190
      Location:80317
      LON_substr_bdg; ATP-dependent protease La (LON) substrate-binding domain
    3. XM_047448254.1XP_047304210.1  protein cereblon isoform X4

    4. XM_047448253.1XP_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_054346738.1XP_054202713.1  protein cereblon isoform X2

      UniProtKB/TrEMBL
      B4DW89
    2. XM_054346737.1XP_054202712.1  protein cereblon isoform X1

      UniProtKB/TrEMBL
      J3QT87
    3. XM_054346740.1XP_054202715.1  protein cereblon isoform X4

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