Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RCBTB2 Gene

protein-coding   GIFtS: 54
GCID: GC13M049063

Regulator Of Chromosome Condensation (RCC1) And BTB (POZ)...

(Previous name: chromosome condensation 1-like)
(Previous symbol: CHC1L)
  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

TryGeneCards Plus

Aliases
Regulator Of Chromosome Condensation (RCC1) And BTB (POZ) Domain
Containing Protein 21 2
     RCC1-Like G Exchanging Factor RLG2
CHC1L1 2 3 5     CHC1-L3
Chromosome Condensation 1-Like1 3     RCC1-Like G Exchanging Factor3
RLG2 3     Regulator Of Chromosome Condensation And BTB Domain-Containing Protein 23
RCC1 And BTB Domain-Containing Protein 22     

External Ids:    HGNC: 19141   Entrez Gene: 11022   Ensembl: ENSG000001361617   OMIM: 6035245   UniProtKB: O951993   

Export aliases for RCBTB2 gene to outside databases

Previous GC identifers: GC13M047962 GC13M029855


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

TryGeneCards Plus

Entrez Gene summary for RCBTB2 Gene:
This gene encodes a protein containing two C-terminal BTB/POZ domains that is related to regulator of chromosome
condensation (RCC). The encoded protein may act as a guanine nucleotide exchange factor. This gene is observed to
be lost or underexpressed in prostate cancers. There is a pseudogene of this gene on chromosome 10. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Nov 2013)

GeneCards Summary for RCBTB2 Gene:
RCBTB2 (regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2) is a protein-coding gene. Diseases associated with RCBTB2 include williams-beuren syndrome, and prostatitis. GO annotations related to this gene include Ran guanyl-nucleotide exchange factor activity. An important paralog of this gene is SERGEF.

Gene Wiki entry for RCBTB2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000013.11  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RCBTB2 gene promoter:
         ER-alpha   HFH-3   IRF-1   C/EBPalpha   Evi-1   PPAR-alpha   FOXI1   E2F-1   E2F   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRCBTB2 promoter sequence
   Search Chromatin IP Primers for RCBTB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RCBTB2


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

Entrez Gene cytogenetic band: 13q14.3   Ensembl cytogenetic band:  13q14.2   HGNC cytogenetic band: 13q14.3

RCBTB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RCBTB2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M049063:  view genomic region     (about GC identifiers)

Start:
49,063,095 bp from pter      End:
49,107,369 bp from pter
Size:
44,275 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RCBT2_HUMAN, O95199 (See protein sequence)
Recommended Name: RCC1 and BTB domain-containing protein 2  
Size: 551 amino acids; 60315 Da
Secondary accessions: B2RDW8
Alternative splicing: 2 isoforms:  O95199-1   O95199-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RCBTB2: NX_O95199

Explore proteomics data for RCBTB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RCBTB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001259.1  NP_001273759.1  NP_001273760.1  NP_001273761.1  

    ENSEMBL proteins: 
     ENSP00000345144   ENSP00000389910   ENSP00000443862   ENSP00000443904  

    RCBTB2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for RCBTB2
    OriGene Protein Over-expression Lysate for RCBTB2
    OriGene MassSpec for RCBTB2
    OriGene Custom Protein Services for RCBTB2
    GenScript Custom Purified and Recombinant Proteins Services for RCBTB2
    Novus Biologicals RCBTB2 Proteins
    Novus Biologicals RCBTB2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RCBTB2

    RCBTB2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for RCBTB2
    OriGene Custom Antibody Services for RCBTB2
    Novus Biologicals RCBTB2 Antibodies
    Abcam antibodies for RCBTB2
    Cloud-Clone Corp. Antibodies for RCBTB2
    ThermoFisher Antibodies for RCBTB2
    LSBio Antibodies in human, mouse, rat for RCBTB2

    RCBTB2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RCBTB2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RCBTB2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RCBTB2
    Cloud-Clone Corp. CLIAs for RCBTB2


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

    TryGeneCards Plus
    HGNC Gene Families:
    BTBD: BTB/POZ domain containing

    5 InterPro protein domains:
     IPR009091 RCC1/BLIP-II
     IPR000210 BTB/POZ-like
     IPR000408 Reg_chr_condens
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry O95199

    ProtoNet protein and cluster: O95199

    UniProtKB/Swiss-Prot: RCBT2_HUMAN, O95199
    Similarity: Contains 2 BTB (POZ) domains
    Similarity: Contains 6 RCC1 repeats


    RCBTB2 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005087Ran guanyl-nucleotide exchange factor activity TAS9806834
    GO:0005515protein binding ----
         
    RCBTB2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RCBTB2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RCBTB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RCBTB2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RCBTB2

    miRNA
    Products:
        
    miRTarBase miRNAs that target RCBTB2:
    hsa-mir-192-5p (MIRT026401), hsa-mir-26b-5p (MIRT029339)

    Block miRNA regulation of human, mouse, rat RCBTB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RCBTB2 (see all 17):
    hsa-miR-2052 hsa-miR-3910 hsa-miR-320a hsa-miR-539 hsa-miR-124 hsa-miR-1909* hsa-miR-4330 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidRCBTB2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RCBTB2
    Predesigned siRNA for gene silencing in human, mouse, rat RCBTB2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RCBTB2

    Clone
    Products:
         
    OriGene clones in human, mouse for RCBTB2 (see all 7)
    OriGene ORF clones in mouse, rat for RCBTB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RCBTB2 (NM_001268)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCBTB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCBTB2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RCBTB2
    Browse ESI BIO Cell Lines and PureStem Progenitors for RCBTB2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCBTB2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--

    RCBTB2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RCBTB2
    Interactions:

        Search GeneGlobe Interaction Network for RCBTB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for RCBTB2 (O951992, 3 ENSP000003451444) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COPS4Q9BT782, 3, ENSP000002643894MINT-66264 I2D: score=5 STRING: ENSP00000264389
    RCBTB2O951992MINT-66788
    ELP3ENSP000002563984STRING: ENSP00000256398
    RANGAP1ENSP000003485774STRING: ENSP00000348577
    RANGRFENSP000002261054STRING: ENSP00000226105
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032316regulation of Ran GTPase activity TAS9806834

    RCBTB2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RCBTB2 (RCBT2)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for RCBTB2 gene (4 alternative transcripts): 
    NM_001268.3  NM_001286830.1  NM_001286831.1  NM_001286832.1  

    Unigene Cluster for RCBTB2:

    Regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
    Hs.652712  [show with all ESTs]
    Unigene Representative Sequence: NM_001268
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344532(uc001vch.3 uc010tgg.2 uc001vci.3 uc010tgh.2 uc001vcj.3 uc010acv.1 uc010tgi.1)
    ENST00000462703 ENST00000481144 ENST00000430805 ENST00000544492 ENST00000544904

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RCBTB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RCBTB2 (see all 17):
    hsa-miR-2052 hsa-miR-3910 hsa-miR-320a hsa-miR-539 hsa-miR-124 hsa-miR-1909* hsa-miR-4330 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidRCBTB2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RCBTB2
    Predesigned siRNA for gene silencing in human, mouse, rat RCBTB2
    Clone
    Products:
         
    OriGene clones in human, mouse for RCBTB2 (see all 7)
    OriGene ORF clones in mouse, rat for RCBTB2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RCBTB2 (NM_001268)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RCBTB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCBTB2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RCBTB2
    OriGene qSTAR qPCR primer pairs in human, mouse for RCBTB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCBTB2
      QuantiTect SYBR Green Assays in human, mouse, rat RCBTB2
      QuantiFast Probe-based Assays in human, mouse, rat RCBTB2

    Additional mRNA sequence: 

    AB209543.1 AF060219.1 AK023010.1 AK122778.1 AK298438.1 AK301516.1 AK304598.1 AK310081.1 
    AK315703.1 BC029052.1 

    13 DOTS entries:

    DT.412105  DT.91925401  DT.100812762  DT.95192607  DT.75197221  DT.102825131  DT.120769942  DT.120769954 
    DT.120863562  DT.91745519  DT.91810427  DT.91640424  DT.95252131 

    2 AceView cDNA sequences:

    BC031965 BG772479 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RCBTB2 (see all 17)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12a · 12b ^ 13 ^
    SP1:                                            -     -                             -     -     -     -                                                         
    SP2:                                            -     -     -     -     -     -     -     -     -     -                                                         
    SP3:                                                  -                             -     -     -     -                                                         
    SP4:                                                                                -     -     -     -                                                         
    SP5:                                            -     -           -     -     -     -     -     -     -     -     -     -     -     -     -     -               

    ExUns: 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
    SP1:                    -                       -           -     -     -                     
    SP2:                    -                       -           -     -     -                     
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for RCBTB2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    RCBTB2 expression in normal human tissues (normalized intensities)      RCBTB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGTAAAG
    RCBTB2 Expression
    About this image


    RCBTB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Gonad
             Primordial germ cell-like cells
     
     Epiblast (Early Embryonic Tissues)
             Epiblast-like cells
    RCBTB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RCBTB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652712
        Custom PCR Arrays for RCBTB2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RCBTB2
    OriGene qSTAR qPCR primer pairs in human, mouse for RCBTB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCBTB2
    QuantiTect SYBR Green Assays in human, mouse, rat RCBTB2
    QuantiFast Probe-based Assays in human, mouse, rat RCBTB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCBTB2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RCBTB2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rcbtb21 , 5 regulator of chromosome condensation (RCC1) and BTB more1, 5 89.37(n)1
    96.02(a)1
      14 (38.66 cM)5
    1056701  NM_001170694.11  NP_001164165.11 
     731230375 
    chicken
    (Gallus gallus)
    Aves RCBTB21 regulator of chromosome condensation (RCC1) and BTB more 81.88(n)
    88.4(a)
      418861  XM_004938705.1  XP_004938762.1 
    lizard
    (Anolis carolinensis)
    Reptilia RCBTB26
    regulator of chromosome condensation (RCC1) and BT...
    81(a)
    1 ↔ 1
    1(136839729-136863476)
    African clawed frog
    (Xenopus laevis)
    Amphibia chc1l-A-prov2 chromosome condensation 1-like 76.66(n)    BC044119.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rcbtb21 regulator of chromosome condensation (RCC1) and BTB more 69.96(n)
    74.95(a)
      794652  XM_005173365.1  XP_005173422.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ca6
    claret
    6(a)
    1 → many
    3R(25632970-25640782)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FMP25(YLR077W)4 Mitochondrial inner membrane protein required for an more   --   12(283872-285623) 850766  NP_013178.1 


    ENSEMBL Gene Tree for RCBTB2 (if available)
    TreeFam Gene Tree for RCBTB2 (if available)

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

    TryGeneCards Plus
    Paralogs for RCBTB2 gene
    SERGEF2  RCC22  IBTK2  WBSCR162  RCC12  RPGR2  RCBTB12  
    2 SIMAP similar genes for RCBTB2 using alignment to 4 protein entries:     RCBT2_HUMAN (see all proteins):
    RCBTB1    HERC4

    RCBTB2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RCBTB2
    PGOHUM00000238577


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for RCBTB2 (see all 943)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1875881711,2
    --49062624(+) TCATTA/TTACAT 1 -- ds50010--------
    rs1497116591,2
    --49062753(+) TGGGGA/GGTGTT 1 -- ds50010--------
    rs1911554431,2
    --49062776(+) GGCTGC/TGCATG 1 -- ds50010--------
    rs93320871,2
    C,F,H--49062872(-) GGTGAC/TTtttt 1 -- ds50016Minor allele frequency- T:0.01NS EA WA 716
    rs93320861,2
    C,F,H--49062888(-) TGCTCT/CTTATT 1 -- ds500110Minor allele frequency- C:0.08NS EA NA CSA WA 860
    rs9770971,2
    H--49062947(-) CCCTAG/CACCAC 1 -- ds50014Minor allele frequency- C:0.00NS EA 416
    rs93320851,2
    C,F,H--49062990(-) CTTATC/TAAGCA 1 -- ds500115Minor allele frequency- T:0.04NS EA NA WA 1828
    rs93320841,2
    C,F--49063156(-) TTAGAA/GTTCTT 1 -- ut316Minor allele frequency- G:0.01NS NA 324
    rs93320831,2
    H--49063260(-) CAAATT/AACCTA 1 -- ut31 ese35Minor allele frequency- A:0.00NS EA 596
    rs1877700181,2
    --49063270(+) GTTTTA/GATCTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for RCBTB2 (49063095 - 49107369 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RCBTB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2520493CNV Deletion19546169
    esv269860CNV Insertion20981092
    nsv832604CNV Loss17160897
    nsv832602CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RCBTB2
    DNA2.0 Custom Variant and Variant Library Synthesis for RCBTB2

    (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

    TryGeneCards Plus
    OMIM gene information: 603524    OMIM disorders: --

    3 diseases for RCBTB2:    About MalaCards
    williams-beuren syndrome    prostatitis    prostate cancer


    RCBTB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RCBTB2
    Human Genome Epidemiology (HuGE) Navigator: RCBTB2 (2 documents)

    Export disorders for RCBTB2 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

    TryGeneCards Plus

    PubMed articles for RCBTB2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with RCBTB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, gene characterization and 13q14.3 chromosomal assignment of CHC1-L, a chromosome condensation regulator-like guanine nucleotide exchange factor. (PubMed id 9806834)1, 2, 3 Devilder M.-C.... Moisan J.-P. (Genomics 1998)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    8. Expression of RAN, ZHX-2, and CHC1L genes in multiple myeloma patients and in myeloma cell lines treated with HDAC and Dnmts inhibitors. (PubMed id 20568903)1 Legartova S....Kozubek S. (Neoplasma 2010)
    9. The ubiquitin conjugating enzyme, UbcM2, engages in novel interactions with components of cullin-3 based E3 ligases. (PubMed id 19256485)1 Plafker K.S....Plafker S.M. (Biochemistry 2009)
    10. Low expression of ZHX2, but not RCBTB2 or RAN, is associated with poor outcome in multiple myeloma. (PubMed id 18353163)1 Armellini A....San Miguel J.F. (Br. J. Haematol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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

    TryGeneCards Plus
    Entrez Gene: 1102 HGNC: 1914 AceView: CHC1L.1 Ensembl:ENSG00000136161 euGenes: HUgn1102
    ECgene: RCBTB2 H-InvDB: RCBTB2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for RCBTB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RCBTB2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/chc1l/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for RCBTB2 gene:
    Search GeneIP for patents involving RCBTB2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for RCBTB2   OriGene RNAi products in human, mouse, rat for RCBTB2  
     OriGene qPCR primer pairs and template standards for RCBTB2   OriGene Protein Over-expression Lysate for RCBTB2  
     OriGene MassSpec something-or-other for RCBTB2   OriGene clones in human, mouse for RCBTB2  
     OriGene qSTAR qPCR primer pairs in human, mouse for RCBTB2   OriGene Purified Protein for RCBTB2  
     OriGene ORF clones in mouse, rat for RCBTB2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RCBTB2   OriGene Custom Protein Services for RCBTB2  

     
     
     Block miRNA regulation of human, mouse, rat RCBTB2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RCBTB2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RCBTB2 Predesigned siRNA for gene silencing in human, mouse, rat RCBTB2
     QuantiFast Probe-based Assays in human, mouse, rat RCBTB2 QuantiTect SYBR Green Assays in human, mouse, rat RCBTB2
     Custom PCR Arrays for RCBTB2 Search Chromatin IP Primers for RCBTB2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RCBTB2  Search GeneGlobe Interaction Network for RCBTB2
     Regulatory tfbs in RCBTB2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for RCBTB2 GenScript cDNA clones with any tag delivered in your preferred vector for RCBTB2
     GenScript Custom Assay Services for RCBTB2 GenScript Custom overexpressing Cell Line Services for RCBTB2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for RCBTB2 (RCBT2)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RCBTB2 antibodies
     RCBTB2 proteins
     RCBTB2 lysates
     Antibodies for RCBTB2
     See all of Abcam's Antibodies, Kits and Proteins for RCBTB2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for RCBTB2
     Antibodies for RCBTB2
     ELISAs for RCBTB2
     CLIAs for RCBTB2



     Browse ESI BIO Cell Lines and PureStem Progenitors for RCBTB2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RCBTB2
     SwitchGear 3'UTR luciferase reporter plasmids for RCBTB2
     SwitchGear Promoter luciferase reporter plasmids for RCBTB2
     ThermoFisher Antibodies for RCBTB2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RCBTB2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RCBTB2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RCBTB2
     LSBio Antibodies in human, mouse, rat for RCBTB2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RCBTB2 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4