BMF Gene (Protein Coding)

Bcl2 Modifying Factor

GC15M040087
GIFtS:
40
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 f... See more...

Aliases for BMF Gene

Aliases for BMF Gene

  • Bcl2 Modifying Factor 2 3 5
  • Bcl-2-Modifying Factor 3 4
  • FLJ00065 2
  • BMF 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 Androgen receptor signaling pathway and Apoptosis and survival Caspase cascade.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for BMF Gene

Genomics for BMF Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BMF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMF

Top Transcription factor binding sites by QIAGEN in the BMF gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • IRF-7A

Genomic Locations for BMF Gene

Latest Assembly
chr15:40,087,890-40,108,892
(GRCh38/hg38)
Size:
21,003 bases
Orientation:
Minus strand

Previous Assembly
chr15:40,380,091-40,401,080
(GRCh37/hg19 by Entrez Gene)
Size:
20,990 bases
Orientation:
Minus strand

chr15:40,380,091-40,401,093
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for BMF Gene

Proteins for BMF Gene

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  • 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

Protein Expression for BMF Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BMF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BMF Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BMF Gene

Domains & Families for BMF Gene

Gene Families for BMF Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BMF Gene

InterPro:

Suggested Antigen Peptide Sequences for BMF Gene

GenScript: Design optimal peptide antigens:
  • Bcl-2-modifying factor (BMF_HUMAN)

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

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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

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<tm1.1Ast>
  • Bmf Bmf<tm4.1Rjd>

Animal Models for research

Inhibitory RNAs for research

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

Clone products for research

  • 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
cytosol 5
plasma membrane 4
cytoskeleton 4
mitochondrion 4
extracellular 3
nucleus 3
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

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 IBA,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

Pathways by source for BMF Gene

1 Sino Biological pathway for BMF Gene
1 KEGG pathway for BMF Gene
2 GeneGo (Thomson Reuters) pathways for BMF Gene
  • Apoptosis and survival FAS signaling cascades
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
1 R&D Systems pathway for BMF Gene
1 GeneTex pathway for BMF Gene

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:0031334 positive regulation of protein complex assembly 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

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  1. Drug products for research
No Compound Related Data Available

Transcripts for BMF Gene

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mRNA/cDNA for BMF Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

Clone products for research

  • 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

Expression for BMF Gene

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

mRNA expression in normal human tissues for BMF Gene
mRNA expression by GTEx 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

  • Spleen(4.4)
  • Blood(4.4)
  • Intestine(2.3)
  • Bone marrow(2.2)
  • Pancreas(2.1)
  • Liver(2)
genes like me logo Genes that share expression patterns with BMF: view

Primer products for research

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 29 30
  • 99.64 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BMF 29 30
  • 91.85 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BMF 29 30
  • 91.3 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bmf 29
  • 85.61 (n)
Mouse
(Mus musculus)
 Mammalia Bmf 29 16 30
  • 85.43 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BMF 30
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BMF 29 30
  • 68.58 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BMF 30
  • 51 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bmf 29
  • 62.62 (n)
Species where no ortholog for BMF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for BMF

Paralogs for BMF Gene

No data available for Paralogs for BMF Gene

Variants for BMF Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BMF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
BMF

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for BMF Gene

Disorders for BMF Gene

Additional Disease Information for BMF

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

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
  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
  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 40
  4. Bim and Bmf in tissue homeostasis and malignant disease. (PMID: 19641506) Piñon JD … Villunger A (Oncogene 2008) 3 22
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for BMF gene in Mastermind

Products for BMF Gene

  • Addgene plasmids for BMF

Sources for BMF Gene