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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
External Ids for BMF Gene
- HGNC: 24132
- Entrez Gene: 90427
- Ensembl: ENSG00000104081
- OMIM: 606266
- UniProtKB: Q96LC9
Previous GeneCards Identifiers for BMF Gene
- GC15M035747
- GC15M033275
- GC15M037959
- GC15M038096
- GC15M038167
- GC15M040380
- GC15M017223
Summaries 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 Androgen receptor signaling pathway.
UniProtKB/Swiss-Prot Summary for BMF Gene
-
May play a role in apoptosis. Isoform 1 seems to be the main initiator.
Additional gene information for BMF Gene
- HGNC(24132)
- Entrez Gene(90427)
- Ensembl(ENSG00000104081)
- OMIM(606266)
- UniProtKB(Q96LC9)
- Open Targets Platform(ENSG00000104081)
- Monarch Initiative
- Search for BMF at DataMed
- Search for BMF at HumanCyc
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
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
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)
- 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:
-
- 15q15.1 by HGNC
- 15q15.1 by Entrez Gene
- 15q15.1 by Ensembl
BMF Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for BMF Gene
Post-translational modifications for BMF Gene
Other Protein References for BMF Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for BMF
-
Abcam antibodies for BMF
- Invitrogen Antibodies for BMF (AFLGC-BMF)
-
Biorbyt antibodies for BMF
-
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Protein Products
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- antibodies-online: Show 12 available BMF Proteins ranked by validation data
- Compare Top BMF Proteins
-
Quality Products:
-
Abcam proteins for BMF
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
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- Family:
-
- Belongs to the Bcl-2 family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11546872 |
Phenotypes for BMF Gene
- MGI mutant phenotypes for BMF:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for BMF:
Animal Models for BMF Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BMF - Select products 50% OFF >
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miRNA for BMF Gene
- miRTarBase miRNAs that target BMF
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products
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Horizon Cell Lines 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
| 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 |
- Nucleoplasm (2)
| 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 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for BMF Gene
Pathways & Interactions for BMF Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activation of BH3-only proteins | ||
| 2 | Apoptotic execution phase |
.31
|
|
| 3 | MicroRNAs in cancer | ||
| 4 | MAPK Signaling: Oxidative Stress | ||
| 5 | Autophagy Pathway | ||
Pathways by source for BMF Gene
1 Sino Biological pathway for BMF Gene
3 BioSystems pathways for BMF Gene
6 Reactome pathways 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
Interacting Proteins for BMF Gene
Selected Interacting proteins:
Q96LC9-BMF_HUMAN
ENSP00000346697
for BMF Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BMF
| 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 |
Transcripts for BMF Gene
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 :
-
- ENST00000354670 4692 nts (view in UCSC)
- ENST00000397573 4545 nts (view in UCSC)
- ENST00000561360 735 nts (view in UCSC)
- ENST00000561282 747 nts (view in UCSC)
- ENST00000558774 671 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for BMF - Select products 50% OFF >
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OriGene CRISPR knockouts for BMF
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-
Santa Cruz Biotechnology (SCBT) CRISPR for BMF
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for BMF - Select products 50% OFF >
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- RC223732L3
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- RG209733
- RG223634
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- RR207570
- RR207570L3
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- RC223732L3V
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- RR207570L3V
- RR207570L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BMF
- Addgene plasmids for BMF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMF
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Bone (Muscoskeletal System)
- Prechondrocytes Stylopod Epiphyseal End
- Prechondrocytes Zeugopod Epiphyseal End
- Prechondrocytic Mesenchymal Cells Zeugopod
- Prechondrocytes Autopod Epiphyseal End
-
Cartilage (Muscoskeletal System)
- Prechondrocytes Stylopod Epiphyseal End
- Prechondrocytes Zeugopod Epiphyseal End
- Prechondrocytic Mesenchymal Cells Zeugopod
- Prechondrocytes Autopod Epiphyseal End
-
Limb (Muscoskeletal System)
- Prechondrocytic Mesenchymal Cells Zeugopod
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Skeletal Muscle (Muscoskeletal System)
- Limb Muscle Progenitor Cells Forelimb Myotome
-
Lymph (Hematopoietic System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BMF
SOURCE GeneReport for Unigene cluster for BMF Gene:
Hs.591104mRNA 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(2.4)
- Bone marrow(2.4)
- Pancreas(2.3)
- Liver(2.2)
- Lymph node(2.1)
- Kidney(2.1)
- Nervous system(2.1)
- Lung(2)
Primer Products
-
OriGene qPCR primer pairs for BMF
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BMF 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | BMF 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BMF 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bmf 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Bmf 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BMF 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BMF 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BMF 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bmf 30 |
|
- 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
Paralogs for BMF Gene
No data available for Paralogs for BMF Gene
Variants 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 , 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
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- 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
- 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 23
- 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 23
- 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 41
- Bim and Bmf in tissue homeostasis and malignant disease. (PMID: 19641506) Piñon JD … Villunger A (Oncogene 2008) 3 23
- 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
Products for BMF Gene
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- antibodies-online: Show 35 available BMF Antibodies ranked by validation data
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMF
- Search GeneCopoeia for miRNA 3'UTR Target clone products for BMF
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMF
- Biorbyt antibodies for BMF
Sources for BMF Gene
- (1) GeneCards
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- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
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- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
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- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
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- (57) Abcam
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- (60) Sino Biological
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (115) NCBI Bookshelf
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- (117) Gene Damage Index
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- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
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- (143) Applied Biosystems
- (144) GlyConnect
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- (146) GeneCopoeia
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- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB