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BFAR Gene

protein-coding   GIFtS: 57
GCID: GC16P014634

Bifunctional Apoptosis Regulator

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bifunctional Apoptosis Regulator1 2
BAR2 3
RNF472 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BFAR Gene:
BFAR (bifunctional apoptosis regulator) is a protein-coding gene. GO annotations related to this gene include structural molecule activity.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NT_187607.1  NC_018927.2  
Regulatory elements:
   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 Chromatin IP Primers for BFAR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Secondary accessions: A8K4Z9 D3DUG8

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

Explore proteomics data for BFAR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys82, Lys225, Lys247, Lys252, Lys261, Lys322, Lys327
  • Glycosylation2 at Asn232
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_057645.1  
    ENSEMBL proteins: 
     ENSP00000261658   ENSP00000454476   ENSP00000455428   ENSP00000456358   ENSP00000457561  
     ENSP00000456869   ENSP00000454606   ENSP00000457165   ENSP00000400634  

    BFAR Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for BFAR
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BFAR
    GenScript Custom Purified and Recombinant Proteins Services for BFAR
    Novus Biologicals BFAR Proteins
    Novus Biologicals BFAR Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BFAR

     
    Search eBioscience for Proteins for BFAR 

     
    antibodies-online proteins for BFAR (4 products) 

     
    antibodies-online peptides for BFAR

    BFAR Antibody Products:

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    Abcam antibodies for BFAR
    Cloud-Clone Corp. Antibodies for BFAR
    ThermoFisher Antibodies for BFAR
    antibodies-online antibodies for BFAR (30 products) 

    BFAR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for BFAR
    Cloud-Clone Corp. CLIAs for BFAR
    Search eBioscience for ELISAs for BFAR 
    antibodies-online kits for BFAR (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers
    SAMD: Sterile alpha motif (SAM) domain containing

    Selected InterPro protein domains (see all 6):
     IPR001841 Znf_RING
     IPR021129 SAM_type1
     IPR013083 Znf_RING/FYVE/PHD
     IPR017907 Znf_RING_CS
     IPR013761 SAM/pointed

    Graphical View of Domain Structure for InterPro Entry Q9NZS9

    ProtoNet protein and cluster: Q9NZS9

    2 Blocks protein domains:
    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


    Find genes that share domains with BFAR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS10716992
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with BFAR           About GenesLikeMe


    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:
       genOway: Develop your customized and physiologically relevant rodent model for BFAR

    miRNA
    Products:
        
    miRTarBase miRNAs that target BFAR:
    hsa-mir-103a-3p (MIRT027003), hsa-mir-98-5p (MIRT027411), hsa-mir-92a-3p (MIRT049808), hsa-mir-29c-3p (MIRT020378), hsa-mir-16-5p (MIRT031448)

    Block miRNA regulation of human, mouse, rat BFAR using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for BFAR
    Predesigned siRNA for gene silencing in human, mouse, rat BFAR

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

    Clone
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    OriGene clones in human, mouse for BFAR (see all 6)
    OriGene ORF clones in mouse, rat for BFAR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BFAR (NM_016561)
    Sino Biological Human cDNA Clone for BFAR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BFAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BFAR

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BFAR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BFAR_HUMAN, Q9NZS9: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    nucleus3
    cytoskeleton1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005887integral component of plasma membrane TAS10716992
    GO:0016020membrane IDA10716992

    Find genes that share ontologies with BFAR           About GenesLikeMe


    (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).
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        Pathway & Disease-focused RT2 Profiler PCR Arrays including BFAR: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BFAR

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

    Selected 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0043066negative regulation of apoptotic process IDA10716992

    Find genes that share ontologies with BFAR           About GenesLikeMe



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

    Browse Tocris compounds for BFAR



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BFAR using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for BFAR
    Predesigned siRNA for gene silencing in human, mouse, rat BFAR
    Clone
    Products:
         
    OriGene clones in human, mouse for BFAR (see all 6)
    OriGene ORF clones in mouse, rat for BFAR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: BFAR (NM_016561)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BFAR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BFAR
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for BFAR
    OriGene qSTAR qPCR primer pairs in human, mouse for BFAR
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BFAR
      QuantiTect SYBR Green Assays in human, mouse, rat BFAR
      QuantiFast Probe-based Assays in human, mouse, rat BFAR

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 325):

    AL540546 BI792371 BI715165 AA706251 AL552529 CB217364 CA421112 BI759664 
    BF971239 Z41491 BE300516 CR603825 BQ574877 BQ957728 CR613606 BU943913 
    BX363831 BC003054 D52004 Z45856 BE887732 BM450677 BE797036 CR608187 

    GeneLoc Exon Structure

    Selected 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™, 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)
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    BFAR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGGGTGA
    BFAR Expression
    About this image

    BFAR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BFAR Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BFAR: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for BFAR
    OriGene qSTAR qPCR primer pairs in human, mouse for BFAR
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BFAR
    QuantiTect SYBR Green Assays in human, mouse, rat BFAR
    QuantiFast Probe-based Assays in human, mouse, rat BFAR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BFAR

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BFAR gene from Selected 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 75.82(n)
    82.63(a)
      416424  XM_414737.4  XP_414737.2 
    lizard
    (Anolis carolinensis)
    Reptilia BFAR6
    bifunctional apoptosis regulator
    74(a)
    1 ↔ 1
    GL343691.1(183748-192846)
    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)
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    Paralogs for BFAR gene
    10 SIMAP similar genes for BFAR using alignment to 9 protein entries:     BFAR_HUMAN (see all proteins):
    TRIM39    TRIM17    RNF135    TRIM49    PCGF3    TRAF3
    TRIM60    RNF112    TRIM5    TRAIP

    Find genes that share paralogs with BFAR           About GenesLikeMe



    (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)
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    Selected SNPs for BFAR (see all 667)    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
    --14726636(+) CCGGC-/GGGGTAT 1 -- us2k10--------
    rs1900456161,2
    C--14726640(+) GCGGTA/GTTACG 1 -- us2k10--------
    rs1812273191,2
    --14726801(+) CGAAGC/TCTCTC 1 -- ut510--------
    rs1853230191,2
    C--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
         Database of Genomic Variants (DGV) 8 variations for BFAR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1740CNV Loss18451855
    nsv905357CNV Gain21882294
    nsv833144CNV Gain17160897
    nsv905356CNV Gain21882294
    essv16469CNV CNV17122850
    dgv811e1CNV Complex17122850
    dgv810e1CNV Complex17122850
    dgv812e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BFAR
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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.)
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    Find genes that share disorders with BFAR           About GenesLikeMe

    Genetic Association Database (GAD): BFAR
    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)
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    PubMed articles for BFAR gene, integrated from 10 sources (see all 17):
    (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. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Bifunctional apoptosis inhibitor (BAR) protects neurons from diverse cell death pathways. (PubMed id 14502241)1, 2, 9 Roth W....Reed J.C. (Cell Death Differ. 2003)
    3. Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. (PubMed id 20523265)1, 4 Liu X....Yang Z. (Retina (Philadelphia, Pa.) 2010)
    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. 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. (Cardiovasc. Res. 2009)
    6. p75NTR signal transduction suppressed by BFAR and p75NTR interactions. (PubMed id 22566094)1 Li H....Huo K. (Sci China Life Sci 2012)
    7. Bifunctional apoptosis regulator (BAR), an endoplasmic reticulum (ER)-associated E3 ubiquitin ligase, modulates BI-1 protein stability and function in ER Stress. (PubMed id 21068390)1 Rong J....Reed J.C. (J. Biol. Chem. 2011)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    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)
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    Entrez Gene: 51283 HGNC: 17613 AceView: BFAR Ensembl:ENSG00000103429 euGenes: HUgn51283
    ECgene: BFAR H-InvDB: BFAR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BFAR gene:
    Search GeneIP for patents involving BFAR

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



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