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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRBN Gene

protein-coding   GIFtS: 50
GCID: GC03M003166

Cereblon

(Previous names: mental retardation, non-syndromic, autosomal recessive,...)
(Previous symbol: MRT2A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
cereblon1 2
MRT2A1 2 5
Mental Retardation, Non-Syndromic, Autosomal Recessive, 2A1
MRT22
Protein Cereblon2
Protein X 00012

External Ids:    HGNC: 301851   Entrez Gene: 511852   Ensembl: ENSG000001138517   OMIM: 6092625   UniProtKB: Q96SW23   

Export aliases for CRBN gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRBN 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. Mutations in this gene are associated with autosomal recessive nonsyndromic mental
retardation. Multiple transcript variants encoding different isoforms have been found for this gene. (provided by
RefSeq, Mar 2010)

GeneCards Summary for CRBN Gene: 
CRBN (cereblon) is a protein-coding gene. Diseases associated with CRBN include distal monosomy 3p, and mental retardation. GO annotations related to this gene include protein binding and ATP-dependent peptidase activity.

UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2
Function: Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the
ubiquitination and subsequent proteasomal degradation of target proteins and is required for limb outgrowth and
expression of the fibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the
assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain
regions involved in memory and learning via its interaction with KCNT1

Gene Wiki entry for CRBN (Cereblon) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRBN gene promoter:
         GR   USF1   Pbx1a   GR-beta   Lmo2   CUTL1   HEN1   USF-1   GR-alpha   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRBN promoter sequence
   Search SABiosciences Chromatin IP Primers for CRBN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRBN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p26.2   Ensembl cytogenetic band:  3p26.2   HGNC cytogenetic band: 3p26.3

CRBN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRBN gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M003166:  view genomic region     (about GC identifiers)

Start:
3,190,676 bp from pter      End:
3,221,401 bp from pter
Size:
30,726 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2 (See protein sequence)
Recommended Name: Protein cereblon  
Size: 442 amino acids; 50546 Da
Subunit: Interacts with KCNT1 (By similarity). Component of a DCX (DDB1-CUL4-X-box) protein ligase complex, at
least composed of CRBN, CUL4A, DDB1 and RBX1
Subcellular location: Cytoplasm. Nucleus. Membrane; Peripheral membrane protein (By similarity)
Miscellaneous: Specifically binds thalidomide, a drug widely prescribed to pregnant women in the late 1950s.
Thalidomide was sold as a sedative but was found to be teratogenic, causing multiple birth defects. Recently,
thalidomide use has increased for the treatment of multiple myeloma and erythema nodosum leprosum, a painful
complication of leprosy. Thalidomide teratogenic activity may be a consequence of CRBN-binding, which inhibits
the ubiquitin ligase activity of the DCX (DDB1-CUL4-X-box) protein ligase complex, possibly leading to abnormal
regulation of the BMP and FGF8 signaling pathways (PubMed:20223979)
Caution: Although it contains a Lon domain also found in proteases of the peptidase S16 family, it does not
contain the ATP-binding and catalytic domains, suggesting that it has no protease activity
Sequence caution: Sequence=AAF17211.1; Type=Frameshift; Positions=347, 397, 401; Sequence=BAG35471.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAG35471.1; Type=Frameshift;
Positions=347;
Secondary accessions: B2R6H4 C9IZA9 C9JAH6 Q6AI62 Q6NVZ0 Q9UHW4
Alternative splicing: 2 isoforms:  Q96SW2-1   Q96SW2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CRBN: NX_Q96SW2

Explore proteomics data for CRBN at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96SW2

  • CRBN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRBN Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001166953.1  NP_057386.2  

    ENSEMBL proteins: 
     ENSP00000411047   ENSP00000231948   ENSP00000412499   ENSP00000392073  

    Human Recombinant Protein Products for CRBN: 
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    OriGene Protein Over-expression Lysate for CRBN
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    Novus Biologicals CRBN Proteins
    Novus Biologicals CRBN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CRBN 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016020membrane IEA--
    GO:0031464Cul4A-RING ubiquitin ligase complex IDA--

    CRBN for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR015947 PUA-like_domain
     IPR003111 Pept_S16_N

    Graphical View of Domain Structure for InterPro Entry Q96SW2

    ProtoNet protein and cluster: Q96SW2

    UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2
    Similarity: Belongs to the CRBN family
    Similarity: Contains 1 Lon domain


    CRBN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRBN_HUMAN, Q96SW2
    Function: Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the
    ubiquitination and subsequent proteasomal degradation of target proteins and is required for limb outgrowth and
    expression of the fibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the
    assembly and neuronal surface expression of large-conductance calcium-activated potassium channels in brain
    regions involved in memory and learning via its interaction with KCNT1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004176ATP-dependent peptidase activity IEA--
    GO:0005515protein binding IPI--
         
    CRBN for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Crbn):
     behavior/neurological 

    CRBN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Crbntm1.2Jjh for CRBN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRBN 
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate CRBN (see all 24):
    hsa-miR-217 hsa-miR-448 hsa-let-7d hsa-miR-520d-5p hsa-let-7c hsa-miR-583 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCRBN 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRBN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    5/28 Interacting proteins for CRBN (Q96SW23 ENSP000002319484) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBX1P628773, ENSP000002162254I2D: score=1 STRING: ENSP00000216225
    CUL4AQ136193, ENSP000003645894I2D: score=1 STRING: ENSP00000364589
    DDB1Q165313, ENSP000003017644I2D: score=1 STRING: ENSP00000301764
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    COPS6Q7L5N13, ENSP000003041024I2D: score=2 STRING: ENSP00000304102
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0016567protein ubiquitination IMP--
    GO:0032463negative regulation of protein homooligomerization IEA--
    GO:0034766negative regulation of ion transmembrane transport IEA--
    GO:0043161proteasomal ubiquitin-dependent protein catabolic process IMP--

    CRBN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRBN

    Search CenterWatch for drugs/clinical trials and news about CRBN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CRBN gene (2 alternative transcripts): 
    NM_001173482.1  NM_016302.3  

    Unigene Cluster for CRBN:

    Cereblon
    Hs.18925  [show with all ESTs]
    Unigene Representative Sequence: CR627060
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491834(uc003bpr.3 uc003bpq.3) ENST00000488263 ENST00000424814
    ENST00000231948 ENST00000432408(uc011aso.2) ENST00000459840 ENST00000498442
    ENST00000482844 ENST00000480249 ENST00000450014 ENST00000498700 ENST00000492178
    ENST00000478353
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRBN
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate CRBN (see all 24):
    hsa-miR-217 hsa-miR-448 hsa-let-7d hsa-miR-520d-5p hsa-let-7c hsa-miR-583 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCRBN 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CRBN
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    Additional mRNA sequence: 

    AF117230.1 AK027507.1 AK058191.1 AK301423.1 AK312577.1 BC017419.1 BC059171.1 BC067811.1 
    CR627060.1 

    24/27 DOTS entries (see all 27):

    DT.452330  DT.100823733  DT.95206562  DT.99989521  DT.40275437  DT.120894843  DT.91752483  DT.95359149 
    DT.120894790  DT.100823727  DT.120894846  DT.91752480  DT.100823728  DT.120894816  DT.100823730  DT.120894838 
    DT.318120  DT.99975413  DT.100823723  DT.100823734  DT.120894786  DT.120894854  DT.92042848  DT.120894865 

    24/308 AceView cDNA sequences (see all 308):

    BG428916 AL556188 CA423261 AA476649 AI638828 AW450410 CR617747 AU279936 
    AI193355 AA767340 BM975094 AL560737 BG944418 AA515699 CR608669 BU902586 
    AA731110 AI038380 CB132326 NM_016302 AA251223 CA407464 BM828801 AA446969 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CRBN (see all 15)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
    SP1:                                -                       -     -                       -           -     -           -                                 
    SP2:        -                       -                       -     -                       -           -     -                                             
    SP3:                                                                                                                    -                                 
    SP4:                                -                                                                                                                     
    SP5:                                -                       -     -                                                                                       


    ECgene alternative splicing isoforms for CRBN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRBN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGACATCTT
    CRBN Expression
    About this image


    See CRBN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRBN

    SOURCE GeneReport for Unigene cluster: Hs.18925

    UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2
    Tissue specificity: Widely expressed. Highly expressed in brain

        SABiosciences Expression via Pathway-Focused PCR Array including CRBN: 
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRBN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CRBN gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crbn1 , 5 cereblon1, 5 90.12(n)1
    95.93(a)1
      6 (49.24 cM)5
    587991  NM_175357.21  NP_780566.11 
     1067782495 
    chicken
    (Gallus gallus)
    Aves CRBN1 cereblon 81.67(n)
    86.67(a)
      416104  XM_414437.3  XP_414437.3 
    lizard
    (Anolis carolinensis)
    Reptilia CRBN6
    cereblon
    82(a)
    1 ↔ 1
    2(174402462-174434452)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.195482 Transcribed sequence with moderate similarity to protein more 75.97(n)    BX726877.1 
    zebrafish
    (Danio rerio)
    Actinopterygii crbn1 cereblon 68(n)
    72.17(a)
      445491  NM_001003996.1  NP_001003996.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG39251 CG3925 43.87(n)
    30.81(a)
      41230  NM_141716.2  NP_649973.1 
    worm
    (Caenorhabditis elegans)
    Secernentea M18.66
    Protein M18.6
    21(a)
    1 ↔ 1
    IV(12121377-12122882)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G257401 cereblon 49.8(n)
    34.64(a)
      817117  NM_179738.4  NP_850069.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g05215001 hypothetical protein 46.61(n)
    38.44(a)
      4339355  NM_001062611.1  NP_001056076.1 


    ENSEMBL Gene Tree for CRBN (if available)
    TreeFam Gene Tree for CRBN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRBN gene

    CRBN for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CRBN
    PGOHUM00000250227 PGOHUM00000232975


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/981 SNPs in CRBN are shown (see all 981)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1428218291,2
    --3126973(+) AAACAA/GTTTTG 2 -- ds50010--------
    rs1133797291,2
    C,F--3127194(+) TATCAG/CGTCTG 2 -- ds50012Minor allele frequency- C:0.05NA EA 240
    rs717881171,2
    C--3127272(+) AAATT-/TTAC/T
    TAT
    /TTTA
    TTATT
    2 -- ds50010--------
    rs1465747281,2
    --3127289(+) TAAACA/GGTATG 2 -- ds50010--------
    rs1807749481,2
    --3127290(+) AAACGG/TTATGG 2 -- ds50010--------
    rs1413224901,2
    --3127316(+) TAACTC/TTTCAG 2 -- ds50010--------
    rs6982051,2
    C,A,H--3127327(+) AGGGAA/CAAGGT 2 -- ds500112Minor allele frequency- C:0.15NA WA CSA 256
    rs1850120281,2
    --3127335(+) GGTAAC/TTCATT 2 -- ds50010--------
    rs1896355401,2
    --3127361(+) TTCAGC/GCTACA 2 -- ds50010--------
    rs1995426281,2
    C--3127381(+) ATGCT-/ACTG  
            
    ACTGA
    2 -- ds50010--------

    HapMap Linkage Disequilibrium report for CRBN (3190676 - 3221401 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CRBN:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422274CNV Duplication17116639
    nsv3676CNV Insertion18451855
    nsv521796CNV Loss19592680
    nsv876405CNV Gain21882294
    nsv834604CNV Gain17160897
    esv2751994CNV Gain17911159


    Human Gene Mutation Database (HGMD): CRBN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CRBN
    DNA2.0 Custom Variant and Variant Library Synthesis for CRBN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609262   
    OMIM disorders: 607417  
    UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2
  • Mental retardation, autosomal recessive 2A (MRT2A) [MIM:607417]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptative behavior
    and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other
    clinical signs. MRT2A patients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores
    are lower in males than females. Developmental milestones are mildly delayed. There are no dysmorphic or autistic
    features. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for CRBN:    About MalaCards
    distal monosomy 3p    mental retardation    birth defects    leprosy
    intellectual disability    multiple myeloma    diffuse large b-cell lymphoma    myeloma
    b-cell lymphomas    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CRBN:
    Intellectual disability

    CRBN for disorders           About GeneDecksing

    Genetic Association Database (GAD): CRBN

    Export disorders for CRBN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CRBN gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with CRBN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. (PubMed id 15557513)1, 2, 3, 9 Higgins J.J.... Rooney J.P. (2004)
    2. Primary function analysis of human mental retardation related gene CRBN. (PubMed id 17380424)1, 2, 9 Xin W.... Qihan W. (2008)
    3. Identification of a primary target of thalidomide teratogenicity. (PubMed id 20223979)1, 2 Ito T.... Handa H. (2010)
    4. Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. (PubMed id 18414909)1, 2 Higgins J.J.... Rajadhyaksha A.M. (2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    8. Temporal and spatial mouse brain expression of cerebl on, an ionic channel regulator involved in human intelligence. (PubMed id 20131966)1, 9 Higgins J.J....Rajadhyaksha A.M. (2010)
    9. 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) . (PubMed id 23434730)1 Sardnal V....Kosmider O. (2013)
    10. White matter integrity as an intermediate phenotype: e xploratory genome-wide association analysis in individuals at high risk of bipol ar disorder. (PubMed id 23218918)1 Sprooten E....McIntosh A.M. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51185 HGNC: 30185 AceView: CRBN Ensembl:ENSG00000113851 euGenes: HUgn51185
    ECgene: CRBN H-InvDB: CRBN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CRBN Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt117.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CRBN gene:
    Search GeneIP for patents involving CRBN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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