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Aliases for BMF Gene

Aliases for BMF Gene

  • Bcl2 Modifying Factor 2 3 5

External Ids for BMF Gene

Previous GeneCards Identifiers for BMF Gene

  • GC15M035747
  • GC15M033275
  • GC15M037959
  • GC15M038096
  • GC15M038167
  • GC15M040380
  • GC15M017223

Summaries for BMF Gene

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. Among its related pathways are Apoptosis and Autophagy and Activation of BH3-only proteins.

UniProtKB/Swiss-Prot for BMF Gene

  • May play a role in apoptosis. Isoform 1 seems to be the main initiator.

Gene Wiki entry for BMF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMF Gene

Genomics for BMF Gene

Regulatory Elements for BMF Gene

Enhancers for BMF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G040090 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 32.6 +8.5 8534 18.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 DNAJC17 ENSG00000259211 BMF CHST14 SRP14-AS1 SRP14 RAD51-AS1 PLCB2 BUB1B EIF2AK4
GH15G040044 2 FANTOM5 Ensembl ENCODE dbSUPER 18.8 +58.5 58476 12.1 HDGF FOXA2 PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 BMF PLCB2 EIF2AK4 SRP14 PAK6 ANKRD63 C15orf56 RPLP0P10 SRP14-AS1 GC15M040064
GH15G040080 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.8 +26.8 26776 3.5 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 ZNF766 SP5 MXD4 NFYC SRP14 SRP14-AS1 BMF EIF2AK4 ANKRD63 PAK6 C15orf56 PLCB2 RPLP0P10 SPINT1
GH15G040068 1.5 Ensembl ENCODE dbSUPER 12.3 +39.3 39267 2.0 HDGF PKNOX1 ARNT FEZF1 GLI4 BRCA1 ZNF2 ZNF48 YY1 GLIS2 SRP14 SRP14-AS1 EIF2AK4 BMF PAK6 C15orf56 PLCB2 RPLP0P10 GC15M040064 ENSG00000275636
GH15G040074 1.5 Ensembl ENCODE dbSUPER 12.3 +33.5 33546 1.1 ATF1 SIN3A DMAP1 YY1 SLC30A9 ZNF766 GLIS2 ELK1 ZNF143 ZNF263 SRP14 SRP14-AS1 BAHD1 DNAJC17 BMF ENSG00000259211 PAK6 C15orf56 PLCB2 RPLP0P10
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BMF on UCSC Golden Path with GeneCards custom track

Promoters for BMF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075463 -8 1401 HDGF MLX ARNT ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 KLF13

Genomic Location for BMF Gene

Chromosome:
15
Start:
40,087,890 bp from pter
End:
40,108,892 bp from pter
Size:
21,003 bases
Orientation:
Minus strand

Genomic View for BMF Gene

Genes around BMF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BMF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMF Gene

Proteins for BMF Gene

  • Protein details for BMF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LC9-BMF_HUMAN
    Recommended name:
    Bcl-2-modifying factor
    Protein Accession:
    Q96LC9
    Secondary Accessions:
    • Q2M396
    • Q6NT30
    • Q6NT56
    • Q6P9F6
    • Q7Z7D4
    • Q7Z7D5
    • Q9H7K7

    Protein attributes for BMF Gene

    Size:
    184 amino acids
    Molecular mass:
    20508 Da
    Quaternary structure:
    • 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).
    SequenceCaution:
    • Sequence=AAH60783.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15762.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for BMF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMF Gene

Post-translational modifications for BMF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BMF Gene

Domains & Families for BMF Gene

Gene Families for BMF Gene

Protein Domains for BMF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BMF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96LC9

UniProtKB/Swiss-Prot:

BMF_HUMAN :
  • Belongs to the Bcl-2 family.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BMF: view

Function for BMF Gene

Molecular function for BMF Gene

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

Gene Ontology (GO) - Molecular Function for BMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11546872
genes like me logo Genes that share ontologies with BMF: view
genes like me logo Genes that share phenotypes with BMF: view

Animal Models for BMF Gene

MGI Knock Outs for BMF:

Animal Model Products

CRISPR Products

miRNA for BMF Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BMF Gene

Localization for BMF Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMF gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
mitochondrion 5
cytosol 5
nucleus 3
extracellular 2

Gene Ontology (GO) - Cellular Components for BMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0016459 myosin complex ISS 11546872
genes like me logo Genes that share ontologies with BMF: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for BMF Gene

Pathways & Interactions for BMF Gene

genes like me logo Genes that share pathways with BMF: view

SIGNOR curated interactions for BMF Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway TAS --
GO:0006915 apoptotic process IEA --
GO:0010507 negative regulation of autophagy IDA 23629966
GO:0032464 positive regulation of protein homooligomerization ISS --
GO:0034644 cellular response to UV IDA 23629966
genes like me logo Genes that share ontologies with BMF: view

Transcripts for BMF Gene

Unigene Clusters for BMF Gene

Bcl2 modifying factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BMF Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - - -
SP2: - - - - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - -
SP6: -
SP7:
SP8: -

Relevant External Links for BMF Gene

GeneLoc Exon Structure for
BMF
ECgene alternative splicing isoforms for
BMF

Expression for BMF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BMF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BMF Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BMF Gene



Protein tissue co-expression partners for BMF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BMF Gene:

BMF

SOURCE GeneReport for Unigene cluster for BMF Gene:

Hs.591104

mRNA Expression by UniProt/SwissProt for BMF Gene:

Q96LC9-BMF_HUMAN
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.

Evidence on tissue expression from TISSUES for BMF Gene

  • Blood(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with BMF: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BMF Gene

Orthologs for BMF Gene

This gene was present in the common ancestor of chordates.

Orthologs for BMF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BMF 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia BMF 34 35
  • 91.85 (n)
dog
(Canis familiaris)
Mammalia BMF 34 35
  • 91.3 (n)
rat
(Rattus norvegicus)
Mammalia Bmf 34
  • 85.61 (n)
mouse
(Mus musculus)
Mammalia Bmf 34 16 35
  • 85.43 (n)
oppossum
(Monodelphis domestica)
Mammalia BMF 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMF 34 35
  • 68.58 (n)
lizard
(Anolis carolinensis)
Reptilia BMF 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmf 34
  • 62.62 (n)
Species where no ortholog for BMF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for BMF Gene

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

Paralogs for BMF Gene

No data available for Paralogs for BMF Gene

Variants for BMF Gene

Sequence variations from dbSNP and Humsavar for BMF Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000091989 -- 40,108,473(+) AGGCT(C/G)GGCCG intron-variant
rs1000186331 -- 40,091,333(+) TGACC(A/G)TCAGG utr-variant-3-prime
rs1000206114 -- 40,108,157(+) ACTTA(A/G)ACTCC intron-variant, upstream-variant-2KB
rs1000346497 -- 40,096,704(+) TGACA(C/T)TATGA intron-variant
rs1000479297 -- 40,102,343(+) AGAAT(A/C)GCTTG intron-variant

Variation tolerance for BMF Gene

Residual Variation Intolerance Score: 62.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.37; 8.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMF Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BMF Gene

Disorders for BMF Gene

Relevant External Links for BMF

Genetic Association Database (GAD)
BMF
Human Genome Epidemiology (HuGE) Navigator
BMF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMF

No disorders were found for BMF Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BMF Gene

Publications for BMF Gene

  1. Bmf: a proapoptotic BH3-only protein regulated by interaction with the myosin V actin motor complex, activated by anoikis. (PMID: 11546872) Puthalakath H. … Strasser A. (Science 2001) 2 3 4 22 64
  2. Expression and transcriptional regulation of functionally distinct Bmf isoforms in B-chronic lymphocytic leukemia cells. (PMID: 14574334) Morales A.A. … Osorio L.M. (Leukemia 2004) 3 4 22 64
  3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X. … Wu X. (Carcinogenesis 2010) 3 46 64
  4. Bim and Bmf in tissue homeostasis and malignant disease. (PMID: 19641506) PiA+on J.D. … Villunger A. (Oncogene 2008) 3 22 64
  5. Localization of dynein light chains 1 and 2 and their pro-apoptotic ligands. (PMID: 14561217) Day C.L. … Hinds M.G. (Biochem. J. 2004) 3 22 64

Products for BMF Gene

Sources for BMF Gene

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