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

BMF Gene

protein-coding   GIFtS: 60
GCID: GC15M040380

Bcl2 Modifying Factor

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Bcl2 Modifying Factor1 2
Bcl-2-Modifying Factor2

External Ids:    HGNC: 241321   Entrez Gene: 904272   Ensembl: ENSG000001040817   OMIM: 6062665   UniProtKB: Q96LC93   

Export aliases for BMF gene to outside databases

Previous GC identifers: GC15M035747 GC15M033275 GC15M037959 GC15M038096 GC15M038167 GC15M017223


(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 BMF Gene:
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or
homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular
activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins
and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its
association with dynein light chain 2, which may be important for sensing intracellular damage and triggering
apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. (provided
by RefSeq, Jul 2008)

GeneCards Summary for BMF Gene: 
BMF (Bcl2 modifying factor) is a protein-coding gene. Diseases associated with BMF include aortic valve stenosis, and laryngeal squamous cell carcinoma, and among its related super-pathways are Activation of BH3-only proteins and Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: BMF_HUMAN, Q96LC9
Function: May play a role in apoptosis. Isoform 1 seems to be the main initiator

Gene Wiki entry for BMF Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BMF gene promoter:
         E2F-3a   E2F-4   E2F-1   E2F   IRF-7A   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BMF promoter sequence
   Search SABiosciences Chromatin IP Primers for BMF

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


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

Entrez Gene cytogenetic band: 15q14   Ensembl cytogenetic band:  15q15.1   HGNC cytogenetic band: 15q14

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M040380:  view genomic region     (about GC identifiers)

Start:
40,380,091 bp from pter      End:
40,401,093 bp from pter
Size:
21,003 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BMF_HUMAN, Q96LC9 (See protein sequence)
Recommended Name: Bcl-2-modifying factor  
Size: 184 amino acids; 20508 Da
Subunit: Interacts with MCL1, BCL2, BCL2L1/BCL-Xl, BCL2A1 and BCL2L2/BCL-w. Interacts with the myosin V actin
motor complex through its binding to DLC2 (By similarity)
Sequence caution: Sequence=AAH60783.1; Type=Erroneous initiation; Sequence=BAB15762.1; Type=Erroneous initiation;
Secondary accessions: Q2M396 Q6NT30 Q6NT56 Q6P9F6 Q7Z7D4 Q7Z7D5 Q9H7K7
Alternative splicing: 3 isoforms:  Q96LC9-1   Q96LC9-2   Q96LC9-3   

Explore the universe of human proteins at neXtProt for BMF: NX_Q96LC9

Explore proteomics data for BMF at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96LC9

  • BMF Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BMF Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001003940.1  NP_001003942.1  NP_277038.1  NP_001003943.1  

    ENSEMBL proteins: 
     ENSP00000346697   ENSP00000380703   ENSP00000453892   ENSP00000453522   ENSP00000453913  
     ENSP00000396511   ENSP00000453919   ENSP00000454142   ENSP00000452660   ENSP00000220446  
    Reactome Protein details: Q96LC9
    Human Recombinant Protein Products for BMF: 
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    Novus Biologicals BMF Proteins
    Novus Biologicals BMF Lysate
    Sino Biological Recombinant Protein for BMF
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for BMF
    Cloud-Clone Corp. Proteins for BMF 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001669acrosomal vesicle IEA--
    GO:0005737cytoplasm ----
    GO:0005741mitochondrial outer membrane TAS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    BMF for ontologies           About GeneDecksing



    BMF Antibody Products: 
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    ThermoFisher Antibodies for BMF
    LSBio Antibodies in human, mouse, rat for BMF 

    Assay Products for BMF: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for BMF


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

    ProtoNet protein and cluster: Q96LC9

    UniProtKB/Swiss-Prot: BMF_HUMAN, Q96LC9
    Similarity: Belongs to the Bcl-2 family


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMF_HUMAN, Q96LC9
    Function: May play a role in apoptosis. Isoform 1 seems to be the main initiator

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11546872
         
    BMF for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BMF:
     Increased HPV18 LCR reporter a 

         10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Bmf):
     cellular  growth/size  hematopoietic system  immune system  limbs/digits/tail 
     mortality/aging  no phenotypic analysis  normal  reproductive system  tumorigenesis 

    BMF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for BMF: Bmftm1.1Anvi Bmftm1Rjd Bmftm4.1Rjd

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BMF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BMF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BMF 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMF 

    miRNA
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    miRTarBase miRNAs that target BMF:
    hsa-mir-125b (MIRT003394), hsa-mir-221 (MIRT000141)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMF
    8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate BMF (see all 80):
    hsa-miR-1914* hsa-miR-10b* hsa-miR-761 hsa-miR-374b* hsa-miR-4324 hsa-miR-1266 hsa-miR-4306 hsa-miR-1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for BMF
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                         Customized lentivirus expression plasmids for stable overexpression of BMF 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMF


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BMF About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of BH3-only proteins
    Activation of BH3-only proteins0.68
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members0.30
    Intrinsic Pathway for Apoptosis0.63
    2Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins1.00
    3Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    4CDK-mediated phosphorylation and removal of Cdc6
    Apoptosis0.39
    5Apoptosis Modulation and Signaling
    Apoptosis Modulation and Signaling0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for BMF
        Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins


    1 Cell Signaling Technology (CST) Pathway for BMF
        Apoptosis and Autophagy

    2 GeneGo (Thomson Reuters) Pathways for BMF
        Apoptosis and survival FAS signaling cascades
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    2 BioSystems Pathways for BMF
        Apoptosis Modulation and Signaling
    Androgen receptor signaling pathway


    5        Reactome Pathways for BMF
        Activation of BH3-only proteins
    Activation of BMF and translocation to mitochondria
    Intrinsic Pathway for Apoptosis
    BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members
    Apoptosis


    1         Kegg Pathway  (Kegg details for BMF):
        MicroRNAs in cancer


    BMF for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BMF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/16 Interacting proteins for BMF (Q96LC93 ENSP000003466974) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2L2Q928433, ENSP000002504054I2D: score=5 STRING: ENSP00000250405
    BCL2P104153, ENSP000003296234I2D: score=5 STRING: ENSP00000329623
    BCL2L2-PABPN1Q928433I2D: score=5 
    BCL2L1Q078173, ENSP000003025644I2D: score=3 STRING: ENSP00000302564
    MAPK8P459833, ENSP000003534834I2D: score=2 STRING: ENSP00000353483
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0032464positive regulation of protein homooligomerization ISS--
    GO:0042981regulation of apoptotic process ----
    GO:0043276anoikis IDA11546872
    GO:0090200positive regulation of release of cytochrome c from mitochondria ISS--

    BMF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 BMF

    Search CenterWatch for drugs/clinical trials and news about BMF

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BMF gene (4 alternative transcripts): 
    NM_001003940.1  NM_001003942.1  NM_033503.3  NM_001003943.2  

    Unigene Cluster for BMF:

    Bcl2 modifying factor
    Hs.591104  [show with all ESTs]
    Unigene Representative Sequence: NM_001003940
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000354670(uc001zkt.3 uc001zku.3 uc001zkw.3) ENST00000397573(uc001zkv.3)
    ENST00000561360 ENST00000561282 ENST00000558774 ENST00000431415 ENST00000559701
    ENST00000557870 ENST00000560430 ENST00000558057 ENST00000220446
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BMF
    8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate BMF (see all 80):
    hsa-miR-1914* hsa-miR-10b* hsa-miR-761 hsa-miR-374b* hsa-miR-4324 hsa-miR-1266 hsa-miR-4306 hsa-miR-1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene ORF clones in mouse, rat for BMF
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    GenScript: all cDNA clones in your preferred vector (see all 4): BMF (NM_001003940)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMF
    Sirion Biotech Customized lentivirus for stable overexpression of BMF 
                         Customized lentivirus expression plasmids for stable overexpression of BMF 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BMF
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BMF

    Additional mRNA sequence: 

    AK024472.1 AY029254.1 AY222040.1 AY222041.1 BC060783.1 BC069328.1 BC069505.1 BC070043.1 
    BC104983.1 BC104985.1 

    8 DOTS entries:

    DT.101964165  DT.85105318  DT.100773528  DT.100773526  DT.102827679  DT.95266059  DT.91842407  DT.95323641 

    24/110 AceView cDNA sequences (see all 110):

    CB108463 AW338544 BU684928 NM_033503 CA428178 BQ052769 AY029254 BQ052207 
    BQ064116 BQ054664 AY222040 BM564479 AI269493 AY222041 BQ066091 NM_001003943 
    NM_001003942 AI675112 NM_001003940 AW138086 AI869040 AA261805 BE903137 BM998256 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for BMF (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for BMF

    (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

    BMF expression in normal human tissues (normalized intensities)      BMF embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATATGTGTG
    BMF Expression
    About this image


    BMF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             Prechondrocytes Autopod Epiphyseal End
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Prechondrocytes Autopod Epiphyseal End
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Skeletal Muscle (Muscoskeletal System)
             Limb Muscle Progenitor Cells Forelimb Myotome
     
     Lymph (Hematopoietic System)

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

    SOURCE GeneReport for Unigene cluster: Hs.591104

    UniProtKB/Swiss-Prot: BMF_HUMAN, Q96LC9
    Tissue specificity: Isoform 1 is mainly expressed in B-lymphoid cells. Isoform 2 and isoform 3 are mainly
    expressed in B-CLL and normal B-cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including BMF: 
              Necrosis in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Cell Death PathwayFinder in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMF

    (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 BMF gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmf1 , 5 BCL2 modifying factor1, 5 85.43(n)1
    87.98(a)1
      2 (59.40 cM)5
    1715431  NM_138313.31  NP_612186.21 
     1185287575 
    chicken
    (Gallus gallus)
    Aves BMF1 Bcl2 modifying factor 68.58(n)
    67.82(a)
      769140  NM_001113292.1  NP_001106763.1 
    lizard
    (Anolis carolinensis)
    Reptilia BMF6
    Bcl2 modifying factor
    51(a)
    1 ↔ 1
    GL343264.1(1546645-1608195)


    ENSEMBL Gene Tree for BMF (if available)
    TreeFam Gene Tree for BMF (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, 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) 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

    10/480 SNPs in BMF are shown (see all 480)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs769857631,2
    C,F--20447157(+) AAGAAA/CTGCAA 2 -- ds50011Minor allele frequency- C:0.09WA 118
    rs1877984891,2
    --20447241(+) GTGCGA/GGAGGG 2 -- ds50010--------
    rs1163442461,2
    F--20447283(+) AGTGGC/GAGACA 2 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1910502021,2
    --20447325(+) AAGGCA/CGGCAC 2 -- ds50010--------
    rs1135649721,2
    C,F--20447336(+) AGTCGT/GATTTC 2 -- ds50012Minor allele frequency- G:0.05CSA WA 120
    rs1394725851,2
    C--20447349(+) ACGTGG/TAAGAA 2 -- ds50010--------
    rs1500138191,2
    C--20447350(+) CGTGGA/TAGAAC 2 -- ds50010--------
    rs1452343571,2
    --20447405(+) TGGAGA/GAGGAG 2 -- ds50010--------
    rs1487787321,2
    --20447417(+) GAACCA/GGGTCC 2 -- ds50010--------
    rs5407651,2
    C,F,A,H--20447426(-) GCAGGC/TTTTGG 2 -- ds500111Minor allele frequency- T:0.33NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for BMF (40380091 - 40401093 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for BMF: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing BMF
    DNA2.0 Custom Variant and Variant Library Synthesis for BMF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606266    OMIM disorders: --

    13 diseases for BMF:    About MalaCards
    aortic valve stenosis    laryngeal squamous cell carcinoma    transitional cell carcinoma    intrahepatic cholangiocarcinoma
    laryngitis    cholangiocarcinoma    chronic lymphocytic leukemia    hypoxia
    squamous cell carcinoma    myeloma    hepatocellular carcinoma    sarcoma
    leukemia


    BMF for disorders           About GeneDecksing

    Genetic Association Database (GAD): BMF
    Human Genome Epidemiology (HuGE) Navigator: BMF (6 documents)

    Export disorders for BMF 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 BMF gene, integrated from 9 sources (see all 36):
    (articles sorted by number of sources associating them with BMF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bmf: a proapoptotic BH3-only protein regulated by interaction with the myosin V actin motor complex, activated by anoikis. (PubMed id 11546872)1, 2, 3, 9 Puthalakath H.... Strasser A. (2001)
    2. Expression and transcriptional regulation of functionally distinct Bmf isoforms in B-chronic lymphocytic leukemia cells. (PubMed id 14574334)1, 2, 9 Morales A.A....Osorio L.M. (2004)
    3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (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. (2004)
    5. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 2 Hattori A.... Ohara O. (2000)
    6. Localization of dynein light chains 1 and 2 and their pro-apoptotic ligands. (PubMed id 14561217)1, 9 Day C.L....Hinds M.G. (2004)
    7. Bim and Bmf in tissue homeostasis and malignant disea se. (PubMed id 19641506)1, 9 PiA+on J.D....Villunger A. (2008)
    8. JNK phosphorylation of Bim-related members of the Bcl2 family induces Bax-dependent apoptosis. (PubMed id 12591950)1, 9 Lei K. and Davis R.J. (2003)
    9. Bcl2-associated Athanogene 3 Interactome Analysis Reve als a New Role in Modulating Proteasome Activity. (PubMed id 23824909)1 Chen Y....Ge F. (2013)
    10. Common variants near TARDBP and EGR2 are associated wi th susceptibility to Ewing sarcoma. (PubMed id 22327514)1 Postel-Vinay S....Delattre O. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    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)
    About This Section
    Entrez Gene: 90427 HGNC: 24132 AceView: BMF Ensembl:ENSG00000104081 euGenes: HUgn90427
    ECgene: BMF Kegg: 90427 H-InvDB: BMF

    (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 BMF Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BMF Genetics and Cytogenetics in Oncology and Haematology

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

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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