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Aliases for BMF Gene

Aliases for BMF Gene

  • Bcl2 Modifying Factor 2 3 5
  • Bcl-2-Modifying Factor 3

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 survival_Regulation of Apoptosis by Mitochondrial Proteins and MicroRNAs in cancer.

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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for BMF Gene

Promoters and enhancers for BMF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J040090 Promoter/Enhancer 3.3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 703.8 +8.5 8534 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 BMF ENSG00000259211 DNAJC17 RAD51-AS1 BAHD1 CHST14 EIF2AK4 SRP14-AS1 RPLP0P10 ENSG00000259536
GH15J040592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 33.2 -485.5 -485464 2.9 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D KNL1 TRS-GCT4-2 INO80 CCDC32 DNAJC17 ENSG00000259211 BMF RPAP1 RTF1 RMDN3
GH15J040044 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 31.6 +58.5 58476 12.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A IRF4 YY1 CBX5 ZNF207 BMF ENSG00000259211 CHST14 DNAJC17 PLCB2 EIF2AK4 SRP14 BAHD1 RAD51-AS1 PAK6
GH15J040160 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.1 -52.9 -52899 2.9 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 BUB1B INO80 BMF ENSG00000259211 DNAJC17 SRP14 SRP14-AS1 RAD51-AS1 CHST14 EIF2AK4
GH15J040693 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 20.5 -586.2 -586195 3.1 PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 RAD51 RAD51-AS1 ENSG00000285396 INO80 CCDC32 ENSG00000259211 DNAJC17 MGA BMF BAHD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BMF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BMF gene promoter:

Genomic Locations for BMF Gene

Genomic Locations for BMF Gene
chr15:40,087,890-40,108,892
(GRCh38/hg38)
Size:
21,003 bases
Orientation:
Minus strand
chr15:40,380,091-40,401,093
(GRCh37/hg19)

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.

Phenotypes From GWAS Catalog for BMF Gene

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:
  • Bmf Bmf<tm1Rjd>
  • Bmf Bmf<tm4.1Rjd>
  • Bmf Bmf<tm1.1Ast>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMF

Clone Products

  • Addgene plasmids for BMF

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

Subcellular locations from the

Human Protein Atlas (HPA)

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

Drugs & Compounds for BMF Gene

No Compound Related Data Available

Transcripts for BMF Gene

Unigene Clusters for BMF Gene

Bcl2 modifying factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMF

Clone Products

  • Addgene plasmids for BMF

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 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

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 33
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BMF 34 33
  • 91.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BMF 34 33
  • 91.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bmf 33
  • 85.61 (n)
mouse
(Mus musculus)
Mammalia Bmf 16 34 33
  • 85.43 (n)
oppossum
(Monodelphis domestica)
Mammalia BMF 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BMF 34 33
  • 68.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BMF 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bmf 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BMF: view image

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 Variation AA Info Type
rs1000091989 -- 40,108,473(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000186331 -- 40,091,333(-) A/C/G 3_prime_UTR_variant
rs1000206114 -- 40,108,157(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000346497 -- 40,096,704(-) T/C intron_variant
rs1000479297 -- 40,102,343(-) C/A 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)

Additional Variant Information for BMF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Additional Disease Information for BMF

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

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 (New York, N.Y.) 2001) 2 3 4 22 58
  2. Expression and transcriptional regulation of functionally distinct Bmf isoforms in B-chronic lymphocytic leukemia cells. (PMID: 14574334) Morales AA … Osorio LM (Leukemia 2004) 3 4 22 58
  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 44 58
  4. Bim and Bmf in tissue homeostasis and malignant disease. (PMID: 19641506) Piñon JD … Villunger A (Oncogene 2008) 3 22 58
  5. Localization of dynein light chains 1 and 2 and their pro-apoptotic ligands. (PMID: 14561217) Day CL … Hinds MG (The Biochemical journal 2004) 3 22 58

Products for BMF Gene

Sources for BMF Gene

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