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

BFAR Gene

protein-coding   GIFtS: 54
GCID: GC16P014634

bifunctional apoptosis regulator

 Explore 7 diseases affiliated with
BFAR via our new
 Human Malady Compendium 
Biological research products
for BFAR
    

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

Aliases
Bifunctional Apoptosis Regulator1 2
BAR1 2 3
RNF471 2 3
RING Finger Protein 472 3
Bifunctional Apoptosis Inhibitor2

External Ids:    HGNC: 176131   Entrez Gene: 512832   Ensembl: ENSG000001034297   UniProtKB: Q9NZS93   

Export aliases for BFAR gene to outside databases

Previous GC identifers: GC16P014675 GC16M017798 GC16P014693


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

UniProtKB/Swiss-Prot: BFAR_HUMAN, Q9NZS9
Function: Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via
mitochondrial factors




(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_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BFAR gene promoter:
         Nkx2-5   CBF-C   PPAR-alpha   POU2F1   CBF-B   CBF-A   POU2F1b   POU2F1a   POU2F1c   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBFAR promoter sequence
   Search SABiosciences Chromatin IP Primers for BFAR

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


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

Entrez Gene cytogenetic band: 16p13.12   Ensembl cytogenetic band:  16p13.12   HGNC cytogenetic band: 16p13.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P014634:  view genomic region     (about GC identifiers)

Start:
14,726,668 bp from pter      End:
14,763,093 bp from pter
Size:
36,426 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: BFAR_HUMAN, Q9NZS9 (See protein sequence)
Recommended Name: Bifunctional apoptosis regulator  
Size: 450 amino acids; 52738 Da
Subunit: Interacts with CASP8, BCL2 and BCL2L1 through SAM domain and also with HIP1, IFT57, ESRRBL1 and BCAP31
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A8K4Z9 D3DUG8

Explore the universe of human proteins at neXtProt for BFAR: NX_Q9NZS9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NZS9

  • BFAR Protein expression data from MOPED and PaxDb:    About this image 
    BFAR Protein Expression
    REFSEQ proteins: NP_057645.1  
    ENSEMBL proteins: 
     ENSP00000261658   ENSP00000454476   ENSP00000455428   ENSP00000456358   ENSP00000457561  
     ENSP00000456869   ENSP00000454606   ENSP00000457165   ENSP00000400634  

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    Novus Biologicals BFAR Lysate
    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for BFAR

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005887integral to plasma membrane TAS10716992
    GO:0016020membrane IDA10716992

    BFAR 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

    BFAR for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR017907 Znf_RING_CS
     IPR013761 SAM/pointed
     IPR001841 Znf_RING
     IPR001660 SAM
     IPR021129 SAM_type1

    Graphical View of Domain Structure for InterPro Entry Q9NZS9

    ProtoNet protein and cluster: Q9NZS9

    2 Blocks protein families:
    IPB001660 Sterile alpha motif SAM
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: BFAR_HUMAN, Q9NZS9
    Similarity: Contains 1 RING-type zinc finger
    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, 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: BFAR_HUMAN, Q9NZS9
    Function: Apoptosis regulator. Has anti-apoptotic activity, both for apoptosis triggered via death-receptors and via
    mitochondrial factors

         Genatlas biochemistry entry for BFAR:
    potential adhesion receptor,putatively involved in neural crest cells migration,close (10kb) to the ADU breakpoint in
    DiGeorge syndrome,(?same as LAN1,IDD)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS10716992
    GO:0008270zinc ion binding IEA--
         
    BFAR for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for BFAR:
     Increased G1 DNA content  Increased cell death HMECs cel  Increased cell size  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BFAR 

    miRNA
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    hsa-miR-3685 hsa-miR-520d-5p hsa-miR-15a hsa-miR-371-5p hsa-miR-1297 hsa-miR-424 hsa-miR-205* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidBFAR 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 BFAR


    (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 BFAR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/14 Interacting proteins for BFAR (Q9NZS93 ENSP000002616584) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE2D2P628373, ENSP000003817174I2D: score=2 STRING: ENSP00000381717
    UBE2D3P610773, ENSP000003497224I2D: score=2 STRING: ENSP00000349722
    UBE2UQ5VVX93, ENSP000003601164I2D: score=2 STRING: ENSP00000360116
    UBE2WQ96B023, ENSP000003974534I2D: score=2 STRING: ENSP00000397453
    BCL2P104153, ENSP000003296234I2D: score=1 STRING: ENSP00000329623
    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:0006915apoptotic process IEA--
    GO:0043066negative regulation of apoptotic process IDA10716992

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

    (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 BFAR gene: 
    NM_016561.2  

    Unigene Cluster for BFAR:

    Bifunctional apoptosis regulator
    Hs.435556  [show with all ESTs]
    Unigene Representative Sequence: NM_016561
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261658(uc002dco.3 uc010uzh.2) ENST00000566520 ENST00000563971
    ENST00000562442 ENST00000562121 ENST00000563313 ENST00000570219 ENST00000566710
    ENST00000562545 ENST00000564078 ENST00000565478 ENST00000563082 ENST00000426842


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    8/19 QIAGEN miScript miRNA Assays for microRNAs that regulate BFAR (see all 19):
    hsa-miR-3685 hsa-miR-520d-5p hsa-miR-15a hsa-miR-371-5p hsa-miR-1297 hsa-miR-424 hsa-miR-205* hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidBFAR 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for BFAR (see all 7)
    OriGene shRNA RFP: BFAR
    OriGene siRNA: BFAR
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    Additional cDNA sequence: 

    AF173003.1 AK291114.1 AK300778.1 AK313890.1 BC003054.1 

    17 DOTS entries:

    DT.87016767  DT.100813809  DT.100685500  DT.100813814  DT.95326525  DT.95232886  DT.100813810  DT.100813802 
    DT.92447506  DT.100813808  DT.120687720  DT.40278235  DT.100706615  DT.102821877  DT.121126936  DT.85105327 
    DT.92447504 

    24/325 AceView cDNA sequences (see all 325):

    BF971239 D52004 AI888470 BQ188840 AW021536 D51766 BE302562 F07972 
    BC003054 BF939656 Z44193 BQ877878 CA421112 AI370501 AW952375 AL552529 
    CF242861 CN482741 Z45333 BX363831 BQ086255 BM312046 BG753051 BU507373 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for BFAR (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for BFAR

    (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

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

    SOURCE GeneReport for Unigene cluster: Hs.435556

    UniProtKB/Swiss-Prot: BFAR_HUMAN, Q9NZS9
    Tissue specificity: Expressed highly in brain, moderately in small intestine, weakly in testes and only faintly in
    liver and skeletal muscle. Not expressed in heart, kidney, lung and spleen

        SABiosciences Expression via Pathway-Focused PCR Arrays including BFAR: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Ubiquitin Ligases in human mouse rat

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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 chordates.

    Orthologs for BFAR gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bfar1 , 5 bifunctional apoptosis regulator1, 5 86.52(n)1
    90(a)1
      16 (9.45 cM)5
    671181  NM_025976.51  NP_080252.11 
     136718585 
    chicken
    (Gallus gallus)
    Aves BFAR1 bifunctional apoptosis regulator 76.02(n)
    83.02(a)
      416424  XM_414737.3  XP_414737.2 
    lizard
    (Anolis carolinensis)
    Reptilia BFAR6
    --
    80(a)
    1 ↔ 1
    GL343691.1(183911-191019)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.29312 Xenopus laevis transcribed sequence with moderate similarity more 74.25(n)    CA971358.1 


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

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

    (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

    10/499 NCBI SNPs in BFAR are shown (see all 499    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1821444821,2
    --14726275(+) GCTGAA/GGCAGG 1 -- us2k10--------
    rs1867429091,2
    --14726345(+) CTACGA/GAAAAA 1 -- us2k10--------
    rs2004592201,2
    --14726458(+) ATAAC-/TGTAGAG 1 -- us2k10--------
    rs1408678951,2
    --14726634(+) CCGGC-/GGGGTAT 1 -- us2k10--------
    rs1900456161,2
    --14726640(+) GCGGTA/GTTACG 1 -- us2k10--------
    rs1812273191,2
    --14726801(+) CGAAGC/TCTCTC 1 -- ut510--------
    rs1853230191,2
    --14727191(+) GGGCGC/GGAAGG 1 -- int10--------
    rs1418087351,2
    --14727445(+) GCCAGA/GCAAGA 1 -- int10--------
    rs1898071471,2
    --14727579(+) ATCTCC/GGCTCA 1 -- int10--------
    rs1150911021,2
    F--14727668(+) CCACGC/TCCGGC 1 -- int11Minor allele frequency- T:0.06WA 118

    HapMap Linkage Disequilibrium report for BFAR (14726668 - 14763093 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for BFAR
         2 CNVs: 3992 4923

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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

    BFAR for disorders           About GeneDecksing

    7 diseases for BFAR:    About MalaCards
    age related macular degeneration    macular degeneration    parathyroid adenoma    digeorge syndrome
    fainting    adenoma    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: BFAR (1 document)

    Export disorders for BFAR 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 BFAR gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with BFAR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BAR: an apoptosis regulator at the intersection of caspases and Bcl-2 family proteins. (PubMed id 10716992)1, 2, 3 Zhang H.... Reed J.C. (2000)
    2. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PubMed id 14502241)1, 2, 9 Roth W....Reed J.C. (2003)
    3. 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)
    4. Over-expression of a modified bifunctional apoptosis regulator protects against cardiac injury and doxorubicin-induced cardiotoxicity in transgenic mice. (PubMed id 18805781)1, 9 Chua C.C....Chua B.H. (2009)
    5. p75NTR signal transduction suppressed by BFAR and p75N TR interactions. (PubMed id 22566094)1 Li H....Huo K. (2012)
    6. Bifunctional apoptosis regulator (BAR), an endoplasmi c reticulum (ER)-associated E3 ubiquitin ligase, modulates BI-1 protein stabili ty and function in ER Stress. (PubMed id 21068390)1 Rong J....Reed J.C. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Association study of complement factor H, C2, CFB, an d C3 and age-related macular degeneration in a Han Chinese population. (PubMed id 20523265)1 Liu X....Yang Z. (2010)
    10. Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network. (PubMed id 19549727)1 Markson G....Sanderson C.M. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51283 HGNC: 17613 AceView: BFAR Ensembl:ENSG00000103429 euGenes: HUgn51283
    ECgene: BFAR H-InvDB: BFAR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for BFAR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BFAR Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
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    Patent Information for BFAR gene:
    Search GeneIP for patents involving BFAR

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