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

BNC1 Gene

protein-coding   GIFtS: 48
GCID: GC15M083924

basonuclin 1

(Previous name: basonuclin )
(Previous symbol: BNC)
 Explore 10 diseases affiliated with
BNC1 via our new
 Human Malady Compendium 
Biological research products
for BNC1
    

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

Aliases
Basonuclin 11 2     BSN12
BNC1 2 3     Zinc Finger Protein Basonuclin2
HsT194471 2     Zinc Finger Protein Basonuclin-12
Basonuclin1     

External Ids:    HGNC: 10811   Entrez Gene: 6462   Ensembl: ENSG000001695947   OMIM: 6019305   UniProtKB: Q019543   

Export aliases for BNC1 gene to outside databases

Previous GC identifers: GC15M081645 GC15M081715 GC15M060188


(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 BNC1:
The protein encoded by this gene is a zinc finger protein present in the basal cell layer of the epidermis and in hair
follicles. It is also found in abundance in the germ cells of testis and ovary. This protein is thought to play a
regulatory role in keratinocyte proliferation and it may also be a regulator for rRNA transcription. This gene seems
to have multiple alternatively spliced transcript variants, but their full-length nature is not known yet. There seems
to be evidence of multiple polyadenylation sites for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BNC1_HUMAN, Q01954
Function: Likely to be a transcription factor specific for squamous epithelium and for the constituent keratinocytes at
a stage either prior to or at the very beginning of terminal differentiation. May play a role in the differentiation
of spermatozoa and oocytes

Gene Wiki entry for BNC1


(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_000015.9  NC_018926.1  NT_077661.3  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BNC1 gene promoter:
         NF-1   p53   Pbx1a   ATF-2   CUTL1   AP-2gamma   E47   CREB   CRE-BP1   c-Rel   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BNC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BNC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BNC1


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

Entrez Gene cytogenetic band: 15q25.2   Ensembl cytogenetic band:  15q25.2   HGNC cytogenetic band: 15q25.1

BNC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BNC1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M083924:  view genomic region     (about GC identifiers)

Start:
83,924,655 bp from pter      End:
83,953,468 bp from pter
Size:
28,814 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: BNC1_HUMAN, Q01954 (See protein sequence)
Recommended Name: Zinc finger protein basonuclin-1  
Size: 994 amino acids; 110972 Da
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Note=Relocates to the midpiece of the
flagellum during late spermiogenesis in spermatids (By similarity)
Secondary accessions: Q15840

Explore the universe of human proteins at neXtProt for BNC1: NX_Q01954

Post-translational modifications:

  • Phosphorylation on Ser-537 and Ser-541 leads to cytoplasmic localization1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01954

  • BNC1 Protein expression data from MOPED and PaxDb:    About this image 
    BNC1 Protein Expression
    REFSEQ proteins: NP_001708.3  
    ENSEMBL proteins: 
     ENSP00000307041   ENSP00000456727  

    Human Recombinant Protein Products for BNC1: 
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    Uscn Proteins for BNC1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    BNC1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BNC1


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

    BNC1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015880 Znf_C2H2-like
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q01954

    ProtoNet protein and cluster: Q01954

    UniProtKB/Swiss-Prot: BNC1_HUMAN, Q01954
    Similarity: Contains 6 C2H2-type zinc fingers


    (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: BNC1_HUMAN, Q01954
    Function: Likely to be a transcription factor specific for squamous epithelium and for the constituent keratinocytes at
    a stage either prior to or at the very beginning of terminal differentiation. May play a role in the differentiation
    of spermatozoa and oocytes

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9099851
    GO:0008270zinc ion binding IEA--
         
    BNC1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bnc1):
     homeostasis/metabolism  no phenotypic analysis  vision/eye 

    BNC1 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Bnc1tm1.1Tsen for BNC1
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BNC1 

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    SwitchGear 3'UTR luciferase reporter plasmidBNC1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BNC1


    (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 BNC1

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

    5/9 Interacting proteins for BNC1 (Q019543 ENSP000003070414) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PICK1Q9NRD53, ENSP000003494654I2D: score=1 STRING: ENSP00000349465
    BIDP559573, ENSP000003188224I2D: score=1 STRING: ENSP00000318822
    BIKQ133233, ENSP000002161154I2D: score=1 STRING: ENSP00000216115
    HRKO001983, ENSP000002575724I2D: score=1 STRING: ENSP00000257572
    BMFQ96LC93, ENSP000003466974I2D: score=1 STRING: ENSP00000346697
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006356regulation of transcription from RNA polymerase I promoter IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IEA--
    GO:0008284positive regulation of cell proliferation TAS8034748

    BNC1 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

    BNC1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for BNC1
    2 Novoseek chemical compound relationships for BNC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 65.3 22 14988505 (2), 1332044 (2), 10462520 (2), 9727087 (2) (see all 12)
    serine 33.3 4 9223293 (2), 1332044 (1)

    Search CenterWatch for drugs/clinical trials and news about BNC1 

    (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,
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    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 BNC1 gene: 
    NM_001717.3  

    Unigene Cluster for BNC1:

    Basonuclin 1
    Hs.459153  [show with all ESTs]
    Unigene Representative Sequence: L03427
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345382(uc010uos.1 uc002bjt.1) ENST00000569704

    miRNA
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    hsa-miR-302d hsa-miR-520e hsa-miR-376b hsa-miR-300 hsa-miR-146a hsa-miR-30d hsa-miR-519a hsa-miR-372
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    Additional cDNA sequence: 

    AK302992.1 L03427.1 

    2 DOTS entries:

    DT.209924  DT.121048238 

    24/28 AceView cDNA sequences (see all 28):

    T29840 AI921950 BX106012 CB151626 AA978112 AI376578 AL705195 AL044452 
    AW274655 AL039315 AL045814 BG676748 BQ317057 AL044568 NM_001717 BI060631 
    AL042263 AI247348 L03427 AA994036 CN478777 CA313840 AI027965 R25330 

    GeneLoc Exon Structure


    (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

    BNC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAGAAAGGA
    BNC1 Expression
    About this image

    BNC1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeVisceral White AdipocytesAdipose
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    LungRespiratory BronchiolesBasal CellsLung
    SomiteThoracic Ventrolateral Dermomyotome LipMuscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Embryoid bodies (Two-step protocol fo...)
    Beating cell clusters (Spontaneous differen...)

    See BNC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BNC1

    SOURCE GeneReport for Unigene cluster: Hs.459153

    UniProtKB/Swiss-Prot: BNC1_HUMAN, Q01954
    Tissue specificity: Expressed in epidermis, testis and foreskin, and to a lower extent in thymus, spleen, mammary
    glands, placenta, brain and heart

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BNC1

    (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 BNC1 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bnc11 , 5 basonuclin 11, 5 86.71(n)1
    87.15(a)1
      7 (45.71 cM)5
    121731  NM_007562.21  NP_031588.21 
     819666725 
    chicken
    (Gallus gallus)
    Aves BNC11 basonuclin 1 70.17(n)
    69.37(a)
      427504  XM_425076.3  XP_425076.2 
    lizard
    (Anolis carolinensis)
    Reptilia BNC16
    --
    59(a)
    1 ↔ 1
    GL343836.1(61680-78458)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.124162 Transcribed sequence with moderate similarity to protein more 74.01(n)    BX709667.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5687861 zinc finger protein basonuclin-1-like 60.85(n)
    56.56(a)
      568786  XM_692139.4  XP_697231.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta disco6
    disco-r6
    disco-related
    18(a)
    13(a)
    many ↔ many
    many ↔ many
    X(16104631-16110779)
    X(16012821-16043010)
    worm
    (Caenorhabditis elegans)
    Secernentea F55C5.116
    --
    34(a)
    1 → many
    V(12275606-12276988)


    ENSEMBL Gene Tree for BNC1 (if available)
    TreeFam Gene Tree for BNC1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BNC1 gene
    BNC22  
    2 SIMAP similar genes for BNC1 using alignment to 2 protein entries:     BNC1_HUMAN (see all proteins):
    BNC2    DKFZp686A01127

    BNC1 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

    10/458 NCBI SNPs in BNC1 are shown (see all 458    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496877031,2
    Cother83932427(+) CATTTC/TGTTTG 2 K E mis11Minor allele frequency- T:0.00NA 4552
    rs1908538261,2
    --83924270(+) GTTTGA/GCCATG 1 -- ds50010--------
    rs286270411,2
    --83924320(+) TGCCCA/GCCTTG 1 -- ds50010--------
    rs43891081,2
    C,F--83924335(+) CCCAAG/AGTGCT 1 -- ds50015Minor allele frequency- A:0.14NA WA EA 128
    rs1143738821,2
    --83924348(+) GATTAC/TGGGCA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1809678341,2
    --83924594(+) CACTTC/GTACAA 1 -- ds50010--------
    rs1849880261,2
    --83924640(+) GTTTGC/TCTTTT 1 -- ds50010--------
    rs787049471,2
    C,F--83924708(+) TCTTTT/CCACTT 1 -- ut311Minor allele frequency- C:0.13WA 118
    rs1901880221,2
    --83924865(+) TTAGAA/CCACAG 1 -- ut310--------
    rs1824160711,2
    --83924878(+) ATAATC/GTCTCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for BNC1 (83924655 - 83953468 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for BNC1: --

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    (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

    BNC1 for disorders           About GeneDecksing

    OMIM gene information: 601930    OMIM disorders: --

    10 diseases for BNC1:    About MalaCards
    bladder neck obstruction    acute lymphoblastic leukemia    basal cell carcinoma    lymphoblastic leukemia
    cystitis    hepatitis b    leukemia    hepatitis
    carcinoma    interstitial cystitis


    Export disorders for BNC1 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 BNC1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with BNC1)
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    1. Basonuclin: a keratinocyte protein with multiple paired zinc fingers. (PubMed id 1332044)1, 2, 3, 9 Tseng H. and Green H. (1992)
    2. Nuclear localization of basonuclin in human keratinocytes and the role of phosphorylation. (PubMed id 9223293)1, 2, 9 Iuchi S. and Green H. (1997)
    3. Translocation of the zinc finger protein basonuclin from the mouse germ cell nucleus to the midpiece of the spermatozoon during spermiogenesis. (PubMed id 9687312)1, 2, 9 Mahoney M.G.... Tseng H. (1998)
    4. The human basonuclin gene. (PubMed id 9099851)1, 2, 9 Teumer J.... Green H. (1997)
    5. Alternative subcellular locations of keratinocyte basonuclin. (PubMed id 10839715)1, 9 Iuchi S....Green H. (2000)
    6. An unexpected localization of basonuclin in the centrosome, mitochondria, and acrosome of developing spermatids. (PubMed id 9151672)1, 9 Yang Z....Fuchs E. (1997)
    7. Basonuclin is associated with the ribosomal RNA genes on human keratinocyte mitotic chromosomes. (PubMed id 10462520)1, 9 Tseng H....Brown R.S. (1999)
    8. Basonuclin, a zinc finger protein associated with epithelial expansion and proliferation. (PubMed id 9727087)1, 9 Tseng H. (1998)
    9. Basonuclin, a zinc finger protein of keratinocytes and reproductive germ cells, binds to the rRNA gene promoter. (PubMed id 10449744)1, 9 Iuchi S. and Green H. (1999)
    10. Association of basonuclin with ability of keratinocytes to multiply and with absence of terminal differentiation. (PubMed id 8034748)1, 9 Tseng H. and Green H. (1994)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 646 HGNC: 1081 AceView: BNC1 Ensembl:ENSG00000169594 euGenes: HUgn646
    ECgene: BNC1 H-InvDB: BNC1

    (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 BNC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for BNC1 gene:
    Search GeneIP for patents involving BNC1

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