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Aliases for MFF Gene

Aliases for MFF Gene

  • Mitochondrial Fission Factor 2 3 3 5
  • C2orf33 3 4
  • Chromosome 2 Open Reading Frame 33 2
  • EMPF2 3
  • GL004 3

External Ids for MFF Gene

Previous HGNC Symbols for MFF Gene

  • C2orf33

Previous GeneCards Identifiers for MFF Gene

  • GC02P227899
  • GC02P228189
  • GC02P220036

Summaries for MFF Gene

Entrez Gene Summary for MFF Gene

  • This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

GeneCards Summary for MFF Gene

MFF (Mitochondrial Fission Factor) is a Protein Coding gene. Diseases associated with MFF include Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 and Mitochondrial Encephalomyopathy. Among its related pathways are Apoptosis and Autophagy. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for MFF Gene

  • Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles.

Gene Wiki entry for MFF Gene

Additional gene information for MFF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MFF Gene

Genomics for MFF Gene

GeneHancer (GH) Regulatory Elements for MFF Gene

Promoters and enhancers for MFF 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
GH02J227324 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 665.5 +0.8 790 3.1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B IRF4 YY1 SLC30A9 MFF LOC654841 IRS1 RHBDD1 STIP1P2
GH02J227377 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 16 +52.9 52914 3.7 CTCF NFIB ZSCAN4 EBF1 ZNF366 POLR2A ATF7 FOSL2 NFIA CEBPB TM4SF20 MFF AGFG1 STIP1P2
GH02J227370 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +46.0 45958 2.1 STAT1 ETV5 JUND CEBPA ETV4 TCF7 MAFK RUNX3 MFF AGFG1 LOC654841 CCL20 TM4SF20 STIP1P2
GH02J227366 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +42.0 41952 1.7 CEBPB SIN3A ELF1 REST SP1 GTF3C2 ZBTB33 FOSL2 MAFK MFF AGFG1 CCL20 TM4SF20 STIP1P2
GH02J227384 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8 +62.1 62066 6.1 HDAC1 PKNOX1 SIN3A BRCA1 RFX5 TCF12 SCRT2 RCOR1 FOS ETV6 SCYGR1 AGFG1 TM4SF20 MFF CCL20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MFF on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MFF Gene

Genomic Locations for MFF Gene
chr2:227,325,151-227,357,836
(GRCh38/hg38)
Size:
32,686 bases
Orientation:
Plus strand
chr2:228,189,867-228,222,550
(GRCh37/hg19)

Genomic View for MFF Gene

Genes around MFF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MFF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MFF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MFF Gene

Proteins for MFF Gene

  • Protein details for MFF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZY8-MFF_HUMAN
    Recommended name:
    Mitochondrial fission factor
    Protein Accession:
    Q9GZY8
    Secondary Accessions:
    • Q567U1
    • Q658R6
    • Q9BVZ1
    • Q9H690
    • Q9NRG8

    Protein attributes for MFF Gene

    Size:
    342 amino acids
    Molecular mass:
    38465 Da
    Quaternary structure:
    • Homodimer. Interacts with DNM1L (By similarity).

    Alternative splice isoforms for MFF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MFF Gene

Post-translational modifications for MFF Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MFF Gene

Domains & Families for MFF Gene

Gene Families for MFF Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MFF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MFF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9GZY8

UniProtKB/Swiss-Prot:

MFF_HUMAN :
  • Belongs to the Tango11 family.
Family:
  • Belongs to the Tango11 family.
genes like me logo Genes that share domains with MFF: view

Function for MFF Gene

Molecular function for MFF Gene

UniProtKB/Swiss-Prot Function:
Plays a role in mitochondrial and peroxisomal fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles.

Phenotypes From GWAS Catalog for MFF Gene

Gene Ontology (GO) - Molecular Function for MFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21149567
GO:0042803 protein homodimerization activity IDA 23530241
genes like me logo Genes that share ontologies with MFF: view
genes like me logo Genes that share phenotypes with MFF: view

Human Phenotype Ontology for MFF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for MFF

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MFF Gene

Localization for MFF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MFF Gene

Mitochondrion outer membrane; Single-pass type IV membrane protein. Peroxisome. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle.

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 MFF gene
Compartment Confidence
mitochondrion 5
peroxisome 5
nucleus 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005741 mitochondrial outer membrane IEA,IDA 21149567
GO:0005777 peroxisome IDA,IEA 18353969
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MFF: view

Pathways & Interactions for MFF Gene

genes like me logo Genes that share pathways with MFF: view

Pathways by source for MFF Gene

3 Cell Signaling Technology pathways for MFF Gene

Gene Ontology (GO) - Biological Process for MFF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission ISS --
GO:0001836 release of cytochrome c from mitochondria IMP 18353969
GO:0006626 protein targeting to mitochondrion IMP 21149567
GO:0008053 mitochondrial fusion IMP 23921378
GO:0010821 regulation of mitochondrion organization IMP 18353969
genes like me logo Genes that share ontologies with MFF: view

No data available for SIGNOR curated interactions for MFF Gene

Drugs & Compounds for MFF Gene

No Compound Related Data Available

Transcripts for MFF Gene

Unigene Clusters for MFF Gene

Mitochondrial fission factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Addgene plasmids for MFF

Alternative Splicing Database (ASD) splice patterns (SP) for MFF Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - -
SP5: -
SP6: - - - -
SP7: - - - - - - - - - - - - -
SP8: - -
SP9:
SP10:
SP11:
SP12: - - -
SP13: - - - - - - - - - -
SP14: - - - -
SP15: - -
SP16: -

ExUns: 11 ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c · 14d · 14e · 14f
SP1: -
SP2:
SP3: - -
SP4:
SP5:
SP6: -
SP7: - -
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for MFF Gene

GeneLoc Exon Structure for
MFF
ECgene alternative splicing isoforms for
MFF

Expression for MFF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MFF Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.8) and Testis (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MFF Gene



Protein tissue co-expression partners for MFF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MFF Gene:

MFF

SOURCE GeneReport for Unigene cluster for MFF Gene:

Hs.471528

mRNA Expression by UniProt/SwissProt for MFF Gene:

Q9GZY8-MFF_HUMAN
Tissue specificity: Highly expressed in heart, kidney, liver, brain, muscle, and stomach.

Evidence on tissue expression from TISSUES for MFF Gene

  • Nervous system(4.7)
  • Adrenal gland(4.3)
  • Liver(4.3)
  • Stomach(4.3)
  • Lung(3.1)
  • Heart(2.2)
  • Muscle(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with MFF: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MFF Gene

Orthologs for MFF Gene

This gene was present in the common ancestor of chordates.

Orthologs for MFF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MFF 34 33
  • 99.71 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mff 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MFF 34
  • 94 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC102556337 33
  • 91.23 (n)
oppossum
(Monodelphis domestica)
Mammalia MFF 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MFF 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MFF 34 33
  • 81.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MFF 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2181 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.31432 33
zebrafish
(Danio rerio)
Actinopterygii mff 34 33
  • 62.69 (n)
OneToMany
MFF (1 of 2) 34
  • 57 (a)
OneToMany
zgc66022 33
Species where no ortholog for MFF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • dog (Canis familiaris)
  • 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)
  • 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)

Evolution for MFF Gene

ENSEMBL:
Gene Tree for MFF (if available)
TreeFam:
Gene Tree for MFF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MFF: view image

Paralogs for MFF Gene

genes like me logo Genes that share paralogs with MFF: view

No data available for Paralogs for MFF Gene

Variants for MFF Gene

Sequence variations from dbSNP and Humsavar for MFF Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs397514615 pathogenic, likely-pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Global developmental delay, Mitochondrial encephalomyopathy 227,330,777(+) C/T coding_sequence_variant, intron_variant, stop_gained
rs753829320 pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 227,355,756(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs879255690 pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 227,340,312(+) AAAAA/AAA coding_sequence_variant, frameshift, non_coding_transcript_variant
rs886037862 pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 2 227,330,770(+) CC/CCC coding_sequence_variant, frameshift, intron_variant
VAR_036028 A colorectal cancer sample p.Glu29Lys

Structural Variations from Database of Genomic Variants (DGV) for MFF Gene

Variant ID Type Subtype PubMed ID
dgv2163n106 CNV deletion 24896259
dgv2164n106 CNV deletion 24896259
esv2721554 CNV deletion 23290073
esv2721555 CNV deletion 23290073
esv2721556 CNV deletion 23290073
esv2721557 CNV deletion 23290073
esv2721558 CNV deletion 23290073
esv3594532 CNV loss 21293372
esv3594533 CNV loss 21293372
nsv1072076 CNV deletion 25765185
nsv1072077 CNV deletion 25765185
nsv1072499 CNV deletion 25765185
nsv1073016 CNV deletion 25765185
nsv1127804 CNV deletion 24896259
nsv1152322 CNV deletion 26484159
nsv1153358 CNV deletion 26484159
nsv584594 CNV gain 21841781

Variation tolerance for MFF Gene

Residual Variation Intolerance Score: 57.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.87; 95.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MFF Gene

Human Gene Mutation Database (HGMD)
MFF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MFF

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MFF Gene

Disorders for MFF Gene

MalaCards: The human disease database

(10) MalaCards diseases for MFF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
encephalopathy due to defective mitochondrial and peroxisomal fission 2
  • empf2
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
sclerosing keratitis
  • sclerokeratitis
loiasis
  • african eye worm
anterior scleritis
- elite association - COSMIC cancer census association via MalaCards
Search MFF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MFF_HUMAN
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2) [MIM:617086]: An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. {ECO:0000269 PubMed:26783368}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with MFF: view

No data available for Genatlas for MFF Gene

Publications for MFF Gene

  1. The novel tail-anchored membrane protein Mff controls mitochondrial and peroxisomal fission in mammalian cells. (PMID: 18353969) Gandre-Babbe S … van der Bliek AM (Molecular biology of the cell 2008) 2 3 4 58
  2. Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy. (PMID: 26783368) Koch J … Haack TB (Journal of medical genetics 2016) 3 4 58
  3. Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. (PMID: 23921378) Palmer CS … Ryan MT (The Journal of biological chemistry 2013) 3 4 58
  4. Interchangeable adaptors regulate mitochondrial dynamin assembly for membrane scission. (PMID: 23530241) Koirala S … Shaw JM (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 58
  5. Potential use of TIA-1, MFF, microRNA-200a-3p, and microRNA-27 as a novel marker for hepatocellular carcinoma. (PMID: 29496454) Tak H … Lee EK (Biochemical and biophysical research communications 2018) 3 58

Products for MFF Gene

Sources for MFF Gene

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