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 MicroRNAs in cancer.
UniProtKB/Swiss-Prot for BMF Gene
-
May play a role in apoptosis. Isoform 1 seems to be the main initiator.
Additional gene information for BMF Gene
- Monarch Initiative
- Search for BMF at DataMed
- Search for BMF at HumanCyc
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
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around BMF on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- 15q15.1 by Entrez Gene
- 15q15.1 by HGNC
- 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
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- GeneTex BMF Antibody for BMF
-
Boster Bio Antibodies for BMF
-
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Protein Products
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- ProSpec Recombinant Proteins for BMF
- Search GeneTex for Proteins for BMF
Assay Products
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:
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
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-
CRISPR Products
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OriGene CRISPR knockouts for BMF
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- Overview of 141 available BMF gene related products
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miRNA for BMF Gene
- miRTarBase miRNAs that target BMF
miRNA Products
Inhibitory RNA Products
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- Overview of 141 available BMF gene related products
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BMF
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Cell Line Products
-
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 |
|---|---|
| plasma membrane | 5 |
| cytoskeleton | 5 |
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 3 |
| extracellular | 2 |
- 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 | ISS | 11546872 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for BMF Gene
Pathways & Interactions for BMF Gene
Pathways by source for BMF Gene
1 GeneTex pathway for BMF Gene
3 BioSystems pathways for BMF Gene
1 KEGG pathway for BMF Gene
2 GeneGo (Thomson Reuters) pathways for BMF Gene
Interacting Proteins for BMF Gene
Selected Interacting proteins:
Q96LC9-BMF_HUMAN
ENSP00000346697
for BMF Gene via
IID
STRING
UniProtKB
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:0032464 | positive regulation of protein homooligomerization | ISS | -- |
| GO:0034644 | cellular response to UV | IDA | 23629966 |
Transcripts for BMF Gene
mRNA/cDNA for BMF Gene
- (110) Selected AceView cDNA sequences:
- (10) Additional mRNA sequences :
- (4) REFSEQ mRNAs :
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000354670 4687 bps (uc001zkw.6)
- ENST00000397573 4545 bps (uc001zkv.6)
- ENST00000431415 492 bps (uc001zkt.6)
- ENST00000557870 505 bps (uc059hpg.1)
- ENST00000558057 450 bps (uc059hpi.1)
Unigene Clusters for BMF Gene
- Bcl2 modifying factor:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for BMF
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BMF
- genomics-online: gRNA clones - Search results for 141 available BMF gene related products
- Overview of 141 available BMF gene related products
-
Recommended
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for BMF
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miRNA Products
Inhibitory RNA Products
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- Overview of 141 available BMF gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for BMF
- VectorBuilder custom plasmid, inducible vectors for BMF
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for BMF
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BMF
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BMF
- genomics-online: cdna clones - Search results for 141 available BMF gene related products
- Overview of 141 available BMF gene related products
-
Recommended
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- Overview of 141 available BMF gene related products
-
Recommended
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e |
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| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||
| SP8: | - |
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
NURSA nuclear receptor signaling pathways regulating expression of BMF Gene:
BMFSOURCE 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
- Blood(4.2)
- Spleen(4.2)
Primer Products
-
OriGene qPCR primer pairs for BMF
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- Overview of 141 available BMF gene related products
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Recommended
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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | BMF 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | BMF 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Bmf 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Bmf 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BMF 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BMF 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | BMF 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | bmf 33 |
|
- 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
| 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 |
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
- 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
- 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
- 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
- Bim and Bmf in tissue homeostasis and malignant disease. (PMID: 19641506) Piñon JD … Villunger A (Oncogene 2008) 3 22 58
- 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
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for BMF
- antibodies-online: Search results for 119 available BMF Antibodies ranked by validation data
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Sources for BMF Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
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