• Gene id: 56947

Gene Summary

• Gene Symbol: MFF   Gene   UCSC   Ensembl
• Aliases: C2orf33, EMPF2, GL004
• Gene name: mitochondrial fission factor
• Alternate names: mitochondrial fission factor,
• Gene location: 2q36.3 (227325232: 227357835)     Exons: 13     NC_000002.12
• Gene summary(Entrez): 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. Altern
• OMIM: 614785

Protein Summary

• Protein general information: Q9GZY8  
  • Name: Mitochondrial fission factor
  • Length: 342  
  • Mass: 38465
  • Tissue specificity: Highly expressed in heart, kidney, liver, brain, muscle, and stomach. {ECO
• Sequence:

  MSKGTSSDTSLGRVSRAAFPSPTAAEMAEISRIQYEMEYTEGISQRMRVPEKLKVAPPNADLEQGFQEGVPNASV
  IMQVPERIVVAGNNEDVSFSRPADLDLIQSTPFKPLALKTPPRVLTLSERPLDFLDLERPPTTPQNEEIRAVGRL
  KRERSMSENAVRQNGQLVRNDSLWHRSDSAPRNKISRFQAPISAPEYTVTPSPQQARVCPPHMLPEDGANLSSAR
  GILSLIQSSTRRAYQQILDVLDENRRPVLRGGSAAATSNPHHDNVRYGISNIDTTIEGTSDDLTVVDAASLRRQI
  IKLNRRLQLLEEENKERAKREMVMYSITVAFWLLNSWLWFRR

• Structural information:
  • Interpro: IPR039433  IPR008518  
  • STRING: ENSP00000302037
• Other Databases: GeneCards:  MFF  Malacards:  MFF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006626	protein targeting to mitochondrion	IBA	biological process
GO:0005777	peroxisome	IBA	cellular component
GO:0031307	integral component of mitochondrial outer membrane	IBA	cellular component
GO:0090141	positive regulation of mitochondrial fission	IBA	biological process
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0090314	positive regulation of protein targeting to membrane	IDA	biological process
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0005777	peroxisome	IDA	cellular component
GO:0006626	protein targeting to mitochondrion	ISS	biological process
GO:0000266	mitochondrial fission	ISS	biological process
GO:0008053	mitochondrial fusion	IMP	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0070584	mitochondrion morphogenesis	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006626	protein targeting to mitochondrion	IEA	biological process
GO:0000266	mitochondrial fission	IEA	biological process
GO:0005777	peroxisome	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005777	peroxisome	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0032592	integral component of mitochondrial membrane	IDA	cellular component
GO:0005777	peroxisome	IDA	cellular component
GO:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900063	regulation of peroxisome organization	IMP	biological process
GO:0043653	mitochondrial fragmentation involved in apoptotic process	IMP	biological process
GO:0043653	mitochondrial fragmentation involved in apoptotic process	IMP	biological process
GO:0016559	peroxisome fission	IMP	biological process
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:0090200	positive regulation of release of cytochrome c from mitochondria	IMP	biological process
GO:0001836	release of cytochrome c from mitochondria	IMP	biological process
GO:0016559	peroxisome fission	IMP	biological process
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:0006626	protein targeting to mitochondrion	IMP	biological process

Diseases

Associated diseases	References
Encephalopathy due to defective mitochondrial and peroxisomal fission	KEGG:H01900
Encephalopathy due to defective mitochondrial and peroxisomal fission	KEGG:H01900
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881