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BMF Bcl2 modifying factor [ Homo sapiens (human) ]

Gene ID: 90427, updated on 5-Mar-2024

Summary

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Official Symbol
BMFprovided by HGNC
Official Full Name
Bcl2 modifying factorprovided by HGNC
Primary source
HGNC:HGNC:24132
See related
Ensembl:ENSG00000104081 MIM:606266; AllianceGenome:HGNC:24132
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
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]
Expression
Ubiquitous expression in endometrium (RPKM 8.6), bone marrow (RPKM 8.4) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See BMF in Genome Data Viewer
Location:
15q15.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40087890..40108879, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (37894726..37915713, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40380091..40401080, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40331346-40332290 Neighboring gene SRP14 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9224 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40347031-40347610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40354716-40355551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9227 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9228 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40360521-40360704 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9229 Neighboring gene uncharacterized LOC105370787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40369263-40369763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40374533-40375217 Neighboring gene VISTA enhancer hs1611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9231 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40389627-40390140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40395438-40396002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40396003-40396568 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40397101-40397293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9234 Neighboring gene Sharpr-MPRA regulatory region 12469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:40399683-40400378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9235 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40408513-40409016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40415539-40416154 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40416155-40416770 Neighboring gene MT-ND5 pseudogene 37 Neighboring gene MT-ND4 pseudogene 37

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. BCL-2 modifying factor (BMF) is a central regulator of anoikis in human intestinal epithelial cells. Hausmann M, et al. J Biol Chem, 2011 Jul 29. PMID 21673109, Free PMC Article
  2. Bmf is upregulated by PS-341-mediated cell death of glioma cells through JNK phosphorylation. Tianhu Z, et al. Mol Biol Rep, 2010 Mar. PMID 19267218
  3. Bmf contributes to histone deacetylase inhibitor-mediated enhancing effects on apoptosis after ionizing radiation. Zhang Y, et al. Apoptosis, 2006 Aug. PMID 16830229
  4. The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival. Fedele PL, et al. Leukemia, 2021 Jul. PMID 33149265
  5. Early generated B1 B cells with restricted BCRs become chronic lymphocytic leukemia with continued c-Myc and low Bmf expression. Hayakawa K, et al. J Exp Med, 2016 Dec 12. PMID 27899442, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2.
    Title: FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2.
  2. The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival.
    Title: The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival.
  3. Characterization of an alternative BAK-binding site for BH3 peptides.
    Title: Characterization of an alternative BAK-binding site for BH3 peptides.
  4. The findings are consistent with rs539846 influencing chronic lymphocytic leukemia (CLL) susceptibility through differential RELA binding, with direct modulation of BMF expression impacting on anti-apoptotic BCL2, a hallmark of oncogenic dependency in CLL.
    Title: Genetic Predisposition to Chronic Lymphocytic Leukemia Is Mediated by a BMF Super-Enhancer Polymorphism.
  5. Reciprocal regulation of BMF and BIRC5 is linked to Eomes overexpression in colorectal cancer.
    Title: Reciprocal regulation of BMF and BIRC5 (Survivin) linked to Eomes overexpression in colorectal cancer.
  6. Early generated B1 B cells with restricted BCRs become chronic lymphocytic leukemia with continued c-Myc and low Bmf expression
    Title: Early generated B1 B cells with restricted BCRs become chronic lymphocytic leukemia with continued c-Myc and low Bmf expression.
  7. these findings suggest that p53-R273H can specifically drive AKT signaling and suppress BMF expression, resulting in enhanced cell survivability and anoikis resistance.
    Title: Mutant p53-R273H mediates cancer cell survival and anoikis resistance through AKT-dependent suppression of BCL2-modifying factor (BMF).
  8. On the corresponding BMF gene promoter, loss of HDAC8 was associated with signal transducer and activator of transcription 3 (STAT3)/specificity protein 3 (Sp3) transcription factor exchange and recruitment of p300.
    Title: HDAC8 and STAT3 repress BMF gene activity in colon cancer cells.
  9. Overexpression of ApoL2 did not induce cell death on its own. ApoL2 did not sensitize or protect cells from overexpression of the BH3-only proteins Bmf or Noxa.
    Title: Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein.
  10. Diva binds peptides derived from the BH3 domain of several other proapoptotic Bcl-2 proteins, including mouse Harakiri, Bid, Bak and Bmf.
    Title: Nuclear magnetic resonance study of protein-protein interactions involving apoptosis regulator Diva (Boo) and the BH3 domain of proapoptotic Bcl-2 members.
Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
EBI GWAS Catalog
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
EBI GWAS Catalog
Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ00065

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within anoikis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to UV IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of autophagy IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of autophagy IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of release of cytochrome c from mitochondria ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
part_of myosin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of myosin complex ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
bcl-2-modifying factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001003940.2 → NP_001003940.1  bcl-2-modifying factor isoform bmf-1

    See identical proteins and their annotated locations for NP_001003940.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Transcript variants 1 and 2 encode the longest isoform (bmf-1).
    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Related
    ENSP00000346697.4, ENST00000354670.9
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  2. NM_001003942.2 → NP_001003942.1  bcl-2-modifying factor isoform bmf-2

    See identical proteins and their annotated locations for NP_001003942.1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS45223.1
    UniProtKB/Swiss-Prot
    Q96LC9
    Related
    ENSP00000396511.3, ENST00000431415.3
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 163
    BMF; Bcl-2-modifying factor, apoptosis

  3. NM_001003943.3 → NP_001003943.1  bcl-2-modifying factor isoform bmf-3

    See identical proteins and their annotated locations for NP_001003943.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame coding exon, compared to variant 1. It encodes a shorter isoform (bmf-3), compared to isoform bmf-1.
    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS32196.1
    UniProtKB/Swiss-Prot
    Q96LC9
    Related
    ENSP00000453919.1, ENST00000559701.5
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 129
    BMF; Bcl-2-modifying factor, apoptosis

  4. NM_001398495.1 → NP_001385424.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  5. NM_001398496.1 → NP_001385425.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  6. NM_001398497.1 → NP_001385426.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  7. NM_001398498.1 → NP_001385427.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  8. NM_001398499.1 → NP_001385428.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  9. NM_001398500.1 → NP_001385429.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  10. NM_001398501.1 → NP_001385430.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  11. NM_001398502.1 → NP_001385431.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  12. NM_001398503.1 → NP_001385432.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  13. NM_001398504.1 → NP_001385433.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  14. NM_001398505.1 → NP_001385434.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  15. NM_001398506.1 → NP_001385435.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  16. NM_001398507.1 → NP_001385436.1  bcl-2-modifying factor isoform bmf-1

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Related
    ENSP00000453892.1, ENST00000561360.5
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

  17. NM_001398508.1 → NP_001385437.1  bcl-2-modifying factor isoform bmf-3

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS32196.1
    Related
    ENSP00000453913.1, ENST00000558774.5
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 129
    BMF; Bcl-2-modifying factor, apoptosis

  18. NM_001398509.1 → NP_001385438.1  bcl-2-modifying factor isoform bmf-3

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS32196.1
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 129
    BMF; Bcl-2-modifying factor, apoptosis

  19. NM_001398510.1 → NP_001385439.1  bcl-2-modifying factor isoform bmf-3

    Status: REVIEWED

    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS32196.1
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 129
    BMF; Bcl-2-modifying factor, apoptosis

  20. NM_033503.4 → NP_277038.1  bcl-2-modifying factor isoform bmf-1

    See identical proteins and their annotated locations for NP_277038.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Transcript variants 1 and 2 encode the longest isoform (bmf-1).
    Source sequence(s)
    AC021755
    Consensus CDS
    CCDS10052.1
    UniProtKB/Swiss-Prot
    Q2M396, Q6NT30, Q6NT56, Q6P9F6, Q7Z7D4, Q7Z7D5, Q96LC9, Q9H7K7
    Related
    ENSP00000380703.1, ENST00000397573.5
    Conserved Domains (1) summary
    pfam15185
    Location:2 → 184
    BMF; Bcl-2-modifying factor, apoptosis

RNA

  1. NR_174113.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755

  2. NR_174114.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755

  3. NR_174115.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755

  4. NR_174116.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC021755

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    40087890..40108879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    37894726..37915713 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96LC9.1 GenPept UniProtKB/Swiss-Prot:Q96LC9

Gene LinkOut

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Chemical Information
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