Aliases &
Descriptions
for CRBN gene
(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 |
Export aliases for CRBN gene to outside databases |
Summaries
for CRBN gene(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 productis found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in braindevelopment. Mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation. Multipletranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq)
UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2Function: Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the ubiquitinationand subsequent proteasomal degradation of target proteins and is required for limb outgrowth and expression of thefibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the assembly and neuronalsurface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory andlearning via its interaction with KCNT1
|
Genomic Views
for CRBN 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 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: 3p26.3CRBN Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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
|
Proteins
for CRBN gene
(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 leastcomposed 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 painfulcomplication of leprosy. Thalidomide teratogenic activity may be a consequence of CRBN-binding, which inhibits theubiquitin ligase activity of the DCX (DDB1-CUL4-X-box) protein ligase complex, possibly leading to abnormal regulationof 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 theATP-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=Erroneousinitiation; Note=Translation N-terminally extended; Sequence=BAG35471.1; Type=Frameshift; Positions=347;
Secondary accessions: B2R6H4 C9IZA9 C9JAH6 Q6AI62 Q6NVZ0 Q9UHW4Alternative 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
4 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
CRBN for ontologies About GeneDecksing
Antibodies for CRBN:
Assays for CRBN: |
Protein
Domains/
Families
for CRBN gene(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:Graphical View of Domain Structure for InterPro Entry Q96SW2ProtoNet protein and cluster: Q96SW2 UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2Similarity: Belongs to the CRBN familySimilarity: Contains 1 Lon domain |
Gene Function
for CRBN gene
(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, Q96SW2Function: Component of some DCX (DDB1-CUL4-X-box) E3 protein ligase complex, a complex that mediates the ubiquitinationand subsequent proteasomal degradation of target proteins and is required for limb outgrowth and expression of thefibroblast growth factor FGF8. In the complex, may act as a substrate receptor. Regulates the assembly and neuronalsurface expression of large-conductance calcium-activated potassium channels in brain regions involved in memory andlearning via its interaction with KCNT1
2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004176 | ATP-dependent peptidase activity |
IEA | -- | | GO:0005515 | protein binding |
IPI | -- |
About this table
CRBN for ontologies About GeneDecksing
|
Pathways & Interactions
for CRBN gene
(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, Q96SW2Pathway: 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 ID | Qualified GO term | Evidence | PubMed 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
|
Drugs & Compounds
for CRBN gene(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 Tocris compounds for CRBN
|
Transcripts
for CRBN gene(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
|
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
|
Expression
for CRBN gene
(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
About these images
CGAP SAGE TAG: AAGACATCTT
SOURCE GeneReport for Unigene cluster: Hs.18925
UniProtKB/Swiss-Prot: CRBN_HUMAN, Q96SW2Tissue specificity: Widely expressed. Highly expressed in brain
SABiosciences Custom PCR Arrays for CRBN
|
Orthologs
for CRBN gene
(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)
About this table Species with no ortholog for CRBN
ENSEMBL Gene Tree for CRBN (if available) |
Paralogs
for CRBN gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for CRBN gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 3 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap 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 |
|
Disorders & Mutations
for CRBN gene
(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]. MRT2Apatients display mild mental retardation with a standard IQ ranged from 50 to 70. IQ scores are lower in males thanfemales. Developmental milestones are mildly delayed. There are no dysmorphic or autistic features. Non-syndromicmental retardation patients do not manifest other clinical signsHuman Gene Mutation Database (HGMD): CRBN
Export disorders and mutations for CRBN gene to outside databases
|
Medical News
for CRBN gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for CRBN gene (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)- 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)
- Primary function analysis of human mental retardation related gene CRBN. (PubMed id 17380424)1, 2, 7 Xin W.... Qihan W. (2008)
- 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)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- 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)
- Identification of a primary target of thalidomide teratogenicity. (PubMed id 20223979)2 Ito T.... Handa H. (2010)
- Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
- 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)
|
External Searches for CRBN gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CRBN gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CRBN gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CRBN gene(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
|
| Name | Description |
| Protein Spotlight | http://www.expasy.org/spotlight/back_issues/sptlt117.shtml |
|
| | |
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
|
Products
for CRBN gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
| |  | Search Tocris compounds for CRBN |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for CRBN |
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