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

BOLL Gene

protein-coding   GIFtS: 50
GCID: GC02M198591

bol, boule-like (Drosophila)

(Previous name: bol (Drosophila boule homolog)-like )
 Explore 9 diseases affiliated with
BOLL via our new
 Human Malady Compendium 
Biological research products
for BOLL
    

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

Aliases
Bol, Boule-Like (Drosophila)1 2
BOULE1 2 3 5
Bol (Drosophila Boule Homolog)-Like1
Protein Boule-Like2

External Ids:    HGNC: 142731   Entrez Gene: 660372   Ensembl: ENSG000001524307   OMIM: 6061655   UniProtKB: Q8N9W63   

Export aliases for BOLL gene to outside databases

Previous GC identifers: GC02M196791 GC02M197304 GC02M198555 GC02M198794 GC02M198417 GC02M198299 GC02M190443


(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 BOLL:
This gene belongs to the DAZ gene family required for germ cell development. It encodes an RNA-binding protein which is
more similar to Drosophila Boule than to human proteins encoded by genes DAZ (deleted in azoospermia) or DAZL (deleted
in azoospermia-like). Loss of this gene function results in the absence of sperm in semen (azoospermia). Histological
studies demonstrated that the primary defect is at the meiotic G2/M transition. Two alternatively spliced transcript
variants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6
Function: Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR
of mRNAs and regulating their translation (By similarity)

Gene Wiki entry for BOLL


(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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BOLL gene promoter:
         Max   SRY   Pax-6   NF-kappaB   LCR-F1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBOLL promoter sequence
   Search SABiosciences Chromatin IP Primers for BOLL

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


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

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M198591:  view genomic region     (about GC identifiers)

Start:
198,591,603 bp from pter      End:
198,651,486 bp from pter
Size:
59,884 bases      Orientation:
minus 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: BOLL_HUMAN, Q8N9W6 (See protein sequence)
Recommended Name: Protein boule-like  
Size: 283 amino acids; 31301 Da
Subunit: Interacts with DAZ1 and DAZL
Subcellular location: Cytoplasm
Secondary accessions: Q0JW32 Q53T62 Q969U3
Alternative splicing: 4 isoforms:  Q8N9W6-1   Q8N9W6-2   Q8N9W6-3   Q8N9W6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BOLL: NX_Q8N9W6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N9W6

  • BOLL Protein expression data from MOPED and PaxDb:    About this image 
    BOLL Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_149019.1  NP_932074.1  

    ENSEMBL proteins: 
     ENSP00000397711   ENSP00000376116   ENSP00000314792   ENSP00000416911   ENSP00000396099  
     ENSP00000282278  

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    Uscn Proteins for BOLL

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11390979

    BOLL for ontologies           About GeneDecksing



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

    BOLL for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000504 RRM_dom
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q8N9W6

    ProtoNet protein and cluster: Q8N9W6

    1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6
    Similarity: Belongs to the RRM DAZ family
    Similarity: Contains 1 DAZ-like domain
    Similarity: Contains 1 RRM (RNA recognition motif) domain


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BOLL_HUMAN, Q8N9W6
    Function: Probable RNA-binding protein, which may be required during spermatogenesis. May act by binding to the 3'-UTR
    of mRNAs and regulating their translation (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI16001084
    GO:0008494translation activator activity IDA16001084
         
    BOLL for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Boll):
     cellular  endocrine/exocrine gland  reproductive system 

    BOLL for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Bolltm1Eyx for BOLL
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BOLL 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BOLL
    8/29 QIAGEN miScript miRNA Assays for microRNAs that regulate BOLL (see all 29):
    hsa-miR-1287 hsa-miR-3938 hsa-miR-3673 hsa-miR-3146 hsa-miR-202 hsa-miR-513c hsa-miR-132 hsa-miR-320e
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BOLL


    (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 BOLL

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for BOLL (Q8N9W63 ENSP000003147924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DAZ1Q9NQZ33, ENSP000003845734I2D: score=2 STRING: ENSP00000384573
    DAZ4Q86SG33, ENSP000003717424I2D: score=1 STRING: ENSP00000371742
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007126meiosis IDA12499397
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0030154cell differentiation IEA--
    GO:0045948positive regulation of translational initiation IDA16001084

    BOLL 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 BOLL
    Search CenterWatch for drugs/clinical trials and news about BOLL 

    (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, Sirion Biotech, 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 BOLL gene (2 alternative transcripts): 
    NM_033030.5  NM_197970.2  

    Unigene Cluster for BOLL:

    Bol, boule-like (Drosophila)
    Hs.169797  [show with all ESTs]
    Unigene Representative Sequence: NM_033030
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430004(uc002uur.2 uc002uuu.1) ENST00000392296(uc002uus.2)
    ENST00000321801(uc002uut.2 uc010zha.1) ENST00000434976 ENST00000468827
    ENST00000433157 ENST00000486206 ENST00000282278

    miRNA
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    hsa-miR-1287 hsa-miR-3938 hsa-miR-3673 hsa-miR-3146 hsa-miR-202 hsa-miR-513c hsa-miR-132 hsa-miR-320e
    SwitchGear 3'UTR luciferase reporter plasmidBOLL 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BOLL (see all 7)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BOLL

    Additional cDNA sequence: 

    AF272858.1 AK058099.1 AK093453.1 AK097795.1 AK098824.1 AK302817.1 AM295005.1 BC033674.1 

    3 DOTS entries:

    DT.92068142  DT.99930769  DT.99927331 

    24/49 AceView cDNA sequences (see all 49):

    AX748137 NM_197970 NM_033030 AK093453 BC033674 AK097795 BP368992 AK098824 
    AK058099 BF059752 BX113083 AA983861 BQ438372 AA954512 BP369388 AI797395 
    AF272858 BG723619 AW182097 BG721681 BI460610 BV206620 BI462688 BG723959 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for BOLL    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                                                                          
    SP2:        -     -                                         -                                 
    SP3:              -                                         -                                 


    ECgene alternative splicing isoforms for BOLL

    (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

    BOLL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --
    BOLL Expression
    About this image
    See BOLL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BOLL

    SOURCE GeneReport for Unigene cluster: Hs.169797

    UniProtKB/Swiss-Prot: BOLL_HUMAN, Q8N9W6
    Tissue specificity: Testis specific. Not expressed in early embryos, primordial germ cells and spermatogonial cells.
    First expressed in the cytoplasm of spermatocytes and then persists through meiosis

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    In Situ
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    (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 BOLL gene from 4/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BOLL1 bol, boule-like (Drosophila) 79.48(n)
    77.22(a)
      424061  XM_421917.3  XP_421917.3 
    lizard
    (Anolis carolinensis)
    Reptilia BOLL6
    --
    84(a)
    1 ↔ 1
    GL343436.1(557718-587018)
    fruit fly
    (Drosophila melanogaster)
    Insecta bol1 , 3 regulation of translation RNA binding3
    boule1
    55(a)3
    48.62(n)1
    44.2(a)1
      66F53
    390491  NM_079265.31  NP_523989.11 
    worm
    (Caenorhabditis elegans)
    Secernentea daz-16
    DAZ protein 1
    13(a)
    1 ↔ 1
    II(5456288-5458599)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BOLL gene
    DAZ12  DAZL2  DAZ32  DAZ42  DAZ22  
    18 SIMAP similar genes for BOLL using alignment to 4 protein entries:     BOLL_HUMAN (see all proteins):
    DAZ2    DAZ3    CIRBP    RBMY1C    RBMY1E    RBMY1J
    RBMY1A1    DAZL    RBMX    MSI2    HNRNPA1    HNRNPD
    PABPC1    PABPC4    RBM38    RBFOX1    CELF1    DAZAP1

    BOLL 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

    10/802 NCBI SNPs in BOLL are shown (see all 802    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1826906021,2
    --198591107(+) GGCCAA/GAGTAG 2 -- int10--------
    rs1426112011,2
    --198591109(+) CCAAAA/GTAGGA 2 -- int10--------
    rs133968731,2
    H--198591288(+) gagccA/Ctgatc 2 -- int14Minor allele frequency- C:0.00NS EA 420
    rs2017764501,2
    --198591423(+) CATTT-/ATTCAG
            
    ATTGT
    2 -- int10--------
    rs1890001251,2
    --198591494(+) GCATAC/TGTATA 2 -- int10--------
    rs1459632371,2
    --198591550(+) TGTATG/TCATAT 2 -- int10--------
    rs1157367021,2
    F--198591558(+) TATAAT/CCTATA 2 -- int11Minor allele frequency- C:0.02WA 118
    rs1398846911,2
    --198591581(+) AAACAC/GACTTG 2 -- int10--------
    rs22721661,2
    C,H--198591684(-) TTTTGA/GTTTTC 2 -- ut315Minor allele frequency- G:0.00NS EA NA 420
    rs1841717941,2
    --198591687(+) AATCAA/GAACAT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for BOLL (198591603 - 198651486 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BOLL
         1 CNV: 50368

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

    BOLL for disorders           About GeneDecksing

    OMIM gene information: 606165    OMIM disorders: --

    9 diseases for BOLL:    About MalaCards
    azoospermia    urethral obstruction    intracranial aneurysm    spondylosis
    urethritis    male infertility    infertility    neuronitis
    spermatogenic failure

    4 Novoseek disease relationships for BOLL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    azoospermia 87.5 9 8657280 (1), 12499397 (1), 18550751 (1), 9486791 (1) (see all 9)
    infertility male 77.2 6 10819768 (1), 9294855 (1), 9321470 (1), 10857750 (1) (see all 6)
    sterility male 58.7 1 9486791 (1)
    oligozoospermia 56.6 1 8968756 (1)

    Genetic Association Database (GAD): BOLL
    Human Genome Epidemiology (HuGE) Navigator: BOLL (9 documents)

    Export disorders for BOLL 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 BOLL gene, integrated from 9 sources (see all 38):
    (articles sorted by number of sources associating them with BOLL)
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    1. A gene family required for human germ cell development evolved from an ancient meiotic gene conserved in metazoans. (PubMed id 11390979)1, 2, 3 Xu E.Y.... Reijo Pera R.A. (2001)
    2. Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. (PubMed id 17114206)1, 2, 9 Kostova E....Gromoll J. (2007)
    3. Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis. (PubMed id 15705409)1, 4 Westerveld G.H....Lombardi M.P. (2005)
    4. The DAZL family proteins are PABP-binding proteins that regulate translation in germ cells. (PubMed id 16001084)1, 3 Collier B....Gray N.K. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population. (PubMed id 15379971)1, 4 Lepretre A.C....Bienvenu T. (2004)
    7. 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)
    8. Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. (PubMed id 19417033)1, 9 Lin Y.M....Cheng Y.S. (2009)
    9. Association of meiotic arrest with lack of BOULE protein expression in infertile men. (PubMed id 15070965)1, 9 Luetjens C.M....Gromoll J. (2004)
    10. Expression profiles of the DAZ gene family in human testis with and without spermatogenic failure. (PubMed id 15066460)1, 9 Kuo P.L....Hsu C.C. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 66037 HGNC: 14273 AceView: BOLL Ensembl:ENSG00000152430 euGenes: HUgn66037
    ECgene: BOLL H-InvDB: BOLL

    (According to HUGE)
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    (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 BOLL Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for BOLL gene:
    Search GeneIP for patents involving BOLL

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