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CRBN Gene

protein-coding   GIFtS: 47

GC03M003166
cereblon
(Previous names: mental retardation, non-syndromic, autosomal recessive, 2A )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: MRT2A)
Products    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases & Descriptions
cereblon1 2     protein x 00012
MRT2A2 5     MGC273582
mental retardation, non-syndromic, autosomal recessive, 2A1     DKFZp781K07152
OTTHUMP000002095552     protein cereblon2

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

Export aliases for CRBN gene to outside databases


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

Entrez Gene summary for CRBN:
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)

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


(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRBN gene promoter:
         Bach2   CUTL1   FOXC1   FAC1   SREBP-1a   SREBP-1b   SREBP-1c   AP-2gamma   ISGF-3   AP-2alphaA   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CRBN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 3         GeneLoc Exon Structure

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

Start:
3,125,335 bp from pter
End:
3,155,445 bp from pter
Size:
30,111 bases
Orientation:
minus strand

1 alternative location:
Chr3- 3,190,676-3,221,394     
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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   

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

Post-translational modifications:

  • Ubiquitinated, ubiquitination is mediated by its own DCX protein ligase complex1


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001166953.1  NP_057386.2  


    ENSEMBL proteins: 
    ENSP00000392073 ENSP00000412499 ENSP00000411047 ENSP00000231948 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for CRBN 
    Novus Biologicals Proteins for CRBN
    Novus Biologicals Lysate for CRBN
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

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

    CRBN for ontologies           About GeneDecksing



    Antibodies for CRBN: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for CRBN 
    Novus Biologicals Antibody for CRBN
    Browse antibodies at Epitomics

    Assays for CRBN: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CRBN 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CRBN 


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CRBN for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015947 PUA-like
     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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    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

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CRBN
    Sigma-Aldrich shRNA for CRBN
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CRBN
    OriGene shRNA RFP (see all 2): CRBN
    OriGene basic RS shRNA (see all 2): CRBN
    OriGene siRNA (see all 2): CRBN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CRBN 
    miRNA:Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CRBN 
    Search SABiosciences for Assays for microRNAs that regulate CRBN

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CRBN
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CRBN
    OriGene untagged cDNA clones in CMV expression vector (see all 2): CRBN
    OriGene 3'-UTR clone: CRBN 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CRBN 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for CRBN 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004176 ATP-dependent peptidase activity IEA--
    GO:0005515 protein binding IPI--
    About this table

    CRBN for ontologies           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

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

        SABiosciences Custom Pathway-Focused PCR Arrays for CRBN 

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

    3 Gene Ontology (GO) biological process terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508 proteolysis IEA--
    GO:0016567 protein ubiquitination IMP--
    GO:0043161 proteasomal ubiquitin-dependent protein catabolic process IMP--
    About this table

    CRBN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRBN


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CRBN
    Sigma-Aldrich shRNA for CRBN
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CRBN
    OriGene shRNA RFP (see all 2): CRBN
    OriGene basic RS shRNA (see all 2): CRBN
    OriGene siRNA (see all 2): CRBN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CRBN 
    miRNA: Browse microRNA Mimics at Sigma-Aldrich
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CRBN 
    Search SABiosciences for Assays for microRNAs that regulate CRBN
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CRBN
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CRBN
    OriGene untagged cDNA clones in CMV expression vector (see all 2): CRBN
    OriGene 3'-UTR Clone: CRBN 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for CRBN 
    Primers: OriGene genome-wide validated SYBR primer pairs: CRBN
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CRBN: PPH08199A

    REFSEQ mRNAs for CRBN gene (2 alternative transcripts): 

    NM_001173482.1  NM_016302.3  

    Additional cDNA sequence: 

    AF117230.1 AK027507.1 AK058191.1 AK301423.1 AK312577.1 BC017419.1 BC059171.1 BC067811.1 
    CR608669.1 CR617747.1 CR627060.1 

    24/27 DOTS entries (see all 27):

    DT.452330  DT.100823733  DT.95206562  DT.99989521  DT.40275437  DT.120894843  DT.120894790  DT.91752483 
    DT.100823727  DT.120894846  DT.91752480  DT.100823728  DT.120894816  DT.100823730  DT.120894838  DT.100823723 
    DT.100823734  DT.120894786  DT.120894854  DT.92042848  DT.95359149  DT.120894865  DT.318120  DT.95359148 

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

    AA476649 BQ721544 CR617747 AW450410 AA515699 AA251223 BU902586 NM_016302 
    BM828801 AI193355 AA765538 AL560737 CR608669 AA767340 AI811437 AU279936 
    CB158294 BI825713 AA731110 BG944418 AA446969 CB132326 AL705524 AI638828 

    highest scoring ESTs for CRBN:

    AA207131 AF117230 AK027507 AK058191 AL036067 AL556188 AL560737 AL600835 AL691996 AL692671 

    Unigene Cluster for CRBN:

    Cereblon
    Hs.18925  [show with all ESTs]
    Unigene Representative Sequence: CR627060


    GeneLoc Exon Structure

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

    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:                                -                       -     -                                                                                       

    About this scheme

    ECgene alternative splicing isoforms for CRBN
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450014 ENST00000432408(uc003bpr.2 uc011aso.1) ENST00000424814
    ENST00000498700 ENST00000480249 ENST00000231948(uc003bpq.2 uc010hbw.2)
    ENST00000498442 ENST00000482844 ENST00000459840 ENST00000491834 ENST00000492178
    ENST00000478353 ENST00000488263

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    CRBN expression in normal and diseased human tissues

    1  / 2  / 3

    10 probe-sets matching CRBN gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    65753_at2, 3 U95-C 1 1.00 1.00 0.96 1.10 AI676103 0.80 0.80 0.80 1
    45276_g_at2, 3 U95-B 1 1.00 1.00 0.81 1.01 W30943 0.80 1.00 0.91 1
    65754_g_at2, 3 U95-C 1 1.00 1.00 0.77 1.11 AI676103 0.80 0.80 0.80 1
    72971_at2, 3 U95-E 1 0.81 1.00 0.83 1.09 AI743817 0.60 1.00 0.82 1
    45275_at2, 3 U95-B 1 0.44 1.00 0.87 0.81 W30943 0.80 1.00 0.91 1
    73195_at2, 3 U95-D 1 0.31 1.00 0.22 0.88 AI638828 0.40 1.00 0.76 1
    218142_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_016302 0.60 1.00 0.82 1
    222533_at2, 3 U133-B 1 1.00 1.00 -- -- AI676103 0.80 0.80 0.80 1
    218142_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    222533_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table

    CRBN for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    CRBN gene expression
    CRBN gene electronic northern expression
    CRBN gene sage expression
    About these images

    CGAP SAGE TAG: AAGACATCTT

    SOURCE GeneReport for Unigene cluster: Hs.18925

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

    Primers: OriGene genome-wide validated SYBR primer pairs: CRBN
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for CRBN: PPH08199A
        SABiosciences Custom PCR Arrays for CRBN 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for CRBN gene from 5/13 species (see all 13)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CRBN1   -- cereblon 94.04(n)
    97.51(a)
    476551  XM_533757.2  XP_533757.2 
    chimpanzee
    (Pan troglodytes)
    CRBN1   -- cereblon 99.47(n)
    100(a)
    460130  XM_001140433.1  XP_001140433.1 
    cow
    (Bos taurus)
    CRBN1   -- cereblon 90.65(n)
    95.48(a)
    511585  NM_001075527.1  NP_001068995.1 
    rat
    (Rattus norvegicus)
    Crbn1   -- cereblon 90.8(n)
    95.93(a)
    297498  NM_001015003.2  NP_001015003.1 
    mouse
    (Mus musculus)
    Crbn1 , 5 6 (49.24 cM)5
    cereblon1, 5 89.59(n)1
    95.25(a)1
    587991  NM_021449.21  NP_067424.21 
     AA2666985  AF2290325  (see all 25)
    About this table        Species with no ortholog for CRBN

    ENSEMBL Gene Tree for CRBN (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
      --

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/451 NCBI SNPs in CRBN are shown (see all 451)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs14971,2
    C,F,3191813(+) CCCTAT/GAGTAG 3 -- ut31 ese34Minor allele frequency- G:0.01MN NS NA 486
    rs14991,2
    C,F,3191833(+) TTCAAA/GTTAAT 3 -- ut312Minor allele frequency- G:0.03MN WA 234
    rs41831,2
    F3192524(+) TTAGA-/TAAC  
            
    TAACT
    3 -- ut314Minor allele frequency- TAAC:0.43EU NA EA 342
    rs6982041,2
    C,F,O,A,3205432(-) TCTTCC/GGCACC 2 -- int131Minor allele frequency- G:0.37NS EA NA WA 1810
    rs6982061,2
    C,F,O,A,3204804(-) CTCCAG/AGTGAC 2 -- int1110Minor allele frequency- A:0.10NS EA PA EU CA WA NA 8306
    rs6982071,2
    C,F,A,3204733(-) GAATCT/CAACAG 2 -- int111Minor allele frequency- C:0.10NS EA NA WA 476
    rs7115951,2
    C,F,A,3211472(-) ATCTCT/ATACCT 2 -- int117Minor allele frequency- A:0.33NS EA NA WA 1054
    rs7116071,2
    C,F,A,H,3223173(-) GACTCT/CGGAGG 2 -- ng5110Minor allele frequency- C:0.41NA EA WA 226
    rs7116081,2
    C,A,H,3223142(-) AGGTGA/GTGAAT 2 -- ng51 tfbs310Minor allele frequency- G:0.45NA EA WA 224
    rs7116091,2
    C,F,A,H,3223128(-) AAGAGC/TGGAGA 2 -- ng519Minor allele frequency- T:0.30NA WA 138
    About this table

    HapMap Linkage Disequilibrium images for CRBN (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CRBN
         3 CNVs: 8407 5211 36142

    QIAGEN SeqTarget long-range PCR primers for resequencing CRBN 

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CRBN for disorders           About GeneDecksing

    OMIM: 609262   disorders: 607417  

    UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2

  • Defects in CRBN are the cause of mental retardation autosomal recessive type 2A (MRT2A) [MIM:607417]. 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. Non-syndromic
    mental retardation patients do not manifest other clinical signs

    Human Gene Mutation Database (HGMD): CRBN

    Export disorders and mutations for CRBN gene to outside databases


    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

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

    10/16 PubMed articles for CRBN gene, integrated from 7 sources (see all 16):
    (articles sorted by number of sources associating them with CRBN)
    1. A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. (PubMed id 15557513)1, 2, 3, 7 Higgins J.J.... Rooney J.P. (2004)
    2. Primary function analysis of human mental retardation related gene CRBN. (PubMed id 17380424)1, 2, 7 Xin W.... Qihan W. (2008)
    3. 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)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. Temporal and spatial mouse brain expression of cerebl on, an ionic channel regulator involved in human intelligence. (PubMed id 20131966)1, 7 Higgins J.J....Rajadhyaksha A.M. (2010)
    8. Identification of a primary target of thalidomide teratogenicity. (PubMed id 20223979)2 Ito T.... Handa H. (2010)
    9. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt117.shtml

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

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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