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

BICC1 Gene

protein-coding   GIFtS: 48
GCID: GC10P060272

bicaudal C homolog 1 (Drosophila)

 Explore 5 diseases affiliated with
BICC1 via our new
 Human Malady Compendium 
Biological research products
for BICC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Bicaudal C Homolog 1 (Drosophila)1 2
BICC2
CYSRD2
Bic-C3
Protein Bicaudal C Homolog 12
Bic-C3

External Ids:    HGNC: 193511   Entrez Gene: 801142   Ensembl: ENSG000001228707   OMIM: 6142955   UniProtKB: Q9H6943   

Export aliases for BICC1 gene to outside databases

Previous GC identifers: GC10P059348 GC10P059578 GC10P060445 GC10P059897 GC10P060223 GC10P054263


(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 BICC1:
This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation
during embryonic development. Mouse studies identified the corresponding protein to be under strict control during
cell differentiation and to be a maternally provided gene product. (provided by RefSeq, Apr 2009)

UniProtKB/Swiss-Prot: BICC1_HUMAN, Q9H694
Function: Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating
gene expression during embryonic development




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BICC1 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   Ik-3   HNF-1A   Nkx3-1 v2   SRY   HNF-1   FOXO1a   Nkx3-1 v3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for BICC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BICC1


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

Entrez Gene cytogenetic band: 10q21.1   Ensembl cytogenetic band:  10q21.1   HGNC cytogenetic band: 10q21.3

BICC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BICC1 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P060272:  view genomic region     (about GC identifiers)

Start:
60,272,900 bp from pter      End:
60,591,195 bp from pter
Size:
318,296 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BICC1_HUMAN, Q9H694 (See protein sequence)
Recommended Name: Protein bicaudal C homolog 1  
Size: 974 amino acids; 104844 Da
Sequence caution: Sequence=BAB15369.1; Type=Erroneous initiation;
Alternative splicing: 2 isoforms:  Q9H694-1   Q9H694-2   

Explore the universe of human proteins at neXtProt for BICC1: NX_Q9H694

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H694

  • BICC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073981.1  
    ENSEMBL proteins: 
     ENSP00000362993   ENSP00000263103  

    Human Recombinant Protein Products: 
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    Uscn Proteins for BICC1


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

    BICC1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021129 SAM_type1
     IPR004087 KH_dom
     IPR004088 KH_dom_type_1

    Graphical View of Domain Structure for InterPro Entry Q9H694

    ProtoNet protein and cluster: Q9H694

    UniProtKB/Swiss-Prot: BICC1_HUMAN, Q9H694
    Similarity: Belongs to the BicC family
    Similarity: Contains 2 KH domains
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: BICC1_HUMAN, Q9H694
    Function: Putative RNA-binding protein. Acts as a negative regulator of Wnt signaling. May be involved in regulating
    gene expression during embryonic development

    miRNA
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    hsa-miR-9 hsa-miR-133a hsa-miR-133b
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--


    BICC1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Bicc1tm1Bdc for BICC1
         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Bicc1):
     behavior/neurological  cardiovascular system  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  liver/biliary system  mortality/aging  renal/urinary system 
     reproductive system 

    BICC1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BICC1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for BICC1 (Q9H6943 ENSP000003629934) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KHDRBS1Q076663, ENSP000003138294I2D: score=1 STRING: ENSP00000313829
    QKIQ96PU83, ENSP000003549514I2D: score=1 STRING: ENSP00000354951
    IPO13O948293I2D: score=5 
    PAPLNO954283I2D: score=5 
    KIAA1429Q69YN43I2D: score=4 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--
    GO:0090090negative regulation of canonical Wnt receptor signaling pathway IDA--


    BICC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 BICC1
    Search CenterWatch for drugs/clinical trials and news about BICC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BICC1 gene: 
    NM_001080512.1  

    Unigene Cluster for BICC1:

    Bicaudal C homolog 1 (Drosophila)
    Hs.158745  [show with all ESTs]
    Unigene Representative Sequence: NM_001080512
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373886(uc001jki.1) ENST00000476684 ENST00000263103(uc001jkj.1)


    miRNA
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    hsa-miR-9 hsa-miR-133a hsa-miR-133b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BICC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BICC1

    Additional cDNA sequence: 

    AK026129.1 AK225427.1 AK225429.1 AK307780.1 AY726586.1 

    2 DOTS entries:

    DT.97806694  DT.97818140 

    9 AceView cDNA sequences:

    BX282230 AA424272 BG751458 AI242865 BX538102 AK026129 BM972104 BG163356 
    AI375513 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for BICC1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                                                  
    SP2:                                                                  


    ECgene alternative splicing isoforms for BICC1

    (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

    BICC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCGCTGACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    BICC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See BICC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BICC1

    SOURCE GeneReport for Unigene cluster: Hs.158745
        SABiosciences Custom PCR Arrays for BICC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BICC1

    (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 animals.

    Orthologs for BICC1 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bicc11 , 5 bicaudal C homolog 1 (Drosophila)1, 5 86.21(n)1
    93.12(a)1
      10 (36.75 cM)5
    836751  NM_031397.21  NP_113574.11 
     709228325 
    chicken
    (Gallus gallus)
    Aves BICC11 bicaudal C homolog 1 (Drosophila) 82.18(n)
    89.6(a)
      423604  NM_001199507.1  NP_001186436.1 
    lizard
    (Anolis carolinensis)
    Reptilia BICC16
    --
    87(a)
    1 ↔ 1
    GL343251.1(1012453-1044758)
    African clawed frog
    (Xenopus laevis)
    Amphibia Bic-C2 bicaudal-C 76.32(n)    AF224746.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5682011 protein bicaudal C homolog 1-B-like 65.13(n)
    67.87(a)
      568201  XM_691516.4  XP_696608.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta BicC1 Bicaudal C 48.93(n)
    42.91(a)
      34946  NM_165144.1  NP_723948.1 
    worm
    (Caenorhabditis elegans)
    Secernentea bcc-11 Protein BCC-1 45.8(n)
    32.62(a)
      178008  NM_069666.4  NP_502067.2 


    ENSEMBL Gene Tree for BICC1 (if available)
    TreeFam Gene Tree for BICC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BICC1 gene
    ANKS62  

    BICC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/5281 NCBI SNPs in BICC1 are shown (see all 5281    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1495089801,2
    C,unknown54433210(+) AGTTTA/CTTTTG 1 -- int10--------
    rs1123347291,2
    --54261096(+) GGTCAG/ATATTC 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs765581651,2
    F,--54261379(+) CAGATG/ACTCTC 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs1162876181,2
    C,F,--54261904(+) CAGAGG/ATTACT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs2000324781,2
    C--54262114(+) TTCAAA/GAAAAA 1 -- us2k10--------
    rs115952011,2
    H--54264219(+) TCTTCC/TTATGC 1 -- int10--------
    rs346431601,2
    C,F,--54264629(+) CTTACT/GTNNNN 1 -- int17Minor allele frequency- G:0.17NA WA CSA 248
    rs1131046261,2
    --54265105(+) AGATCG/ATTTGG 1 -- int12Minor allele frequency- A:0.04CSA WA 120
    rs728188421,2
    C,--54266118(+) TCCAGG/TGCCTA 1 -- int10--------
    rs754421471,2
    --54268527(+) AAATAC/ATCTGC 1 -- int11Minor allele frequency- A:0.01WA 118

    HapMap Linkage Disequilibrium report for BICC1 (60272900 - 60522900 bp, first 250kb of BICC1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for BICC1
         2 CNVs: 71026 6876
         3 Indels: 60014 11038 71025
    Human Gene Mutation Database (HGMD): BICC1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BICC1
    DNA2.0 Custom Variant and Variant Library Synthesis for BICC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    BICC1 for disorders           About GeneDecksing

    OMIM gene information: 614295    OMIM disorders: --

    UniProtKB/Swiss-Prot: BICC1_HUMAN, Q9H694
  • Defects in BICC1 are a cause of susceptibility to renal dysplasia, cystic (CYSRD) [MIM:601331]. An anomaly of
  • the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma.
    Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic,
    dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts

    5 diseases for BICC1:    About MalaCards
    polycystic kidney disease    cystic kidney    kidney disease    alzheimer's disease
    cholesterol

    1 disease from the University of Copenhagen DISEASES database for BICC1:
    Polycystic kidney disease
    Genetic Association Database (GAD): BICC1
    Human Genome Epidemiology (HuGE) Navigator: BICC1 (5 documents)

    Export disorders for BICC1 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 BICC1 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with BICC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. (PubMed id 21922595)1, 2 Kraus M.R.... Grapin-Botton A. (2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease. (PubMed id 15465627)1, 4 Riemenschneider M.... Kurz A. (2004)
    4. Genome-wide association study of major recurrent depression in the U.K. population. (PubMed id 20516156)1 Lewis C.M....McGuffin P. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    7. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)2 Olsen J.V....Mann M. (2006)
    9. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1 Grupe A....Goate A. (2006)
    10. Identification and expression of the mammalian homologue of Bicaudal-C. (PubMed id 11231089)1 Wessely O....De Robertis E.M. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80114 HGNC: 19351 AceView: BICC1 Ensembl:ENSG00000122870 euGenes: HUgn80114
    ECgene: BICC1 H-InvDB: BICC1

    (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 BICC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BICC1 gene:
    Search GeneIP for patents involving BICC1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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