• Gene id: 113115

Gene Summary

• Gene Symbol: MTFR2   Gene   UCSC   Ensembl
• Aliases: DUFD1, FAM54A
• Gene name: mitochondrial fission regulator 2
• Alternate names: mitochondrial fission regulator 2, DUF729 domain-containing protein 1, family with sequence similarity 54, member A,
• Gene location: 6q23.3 (136253658: 136231029)     Exons: 9     NC_000006.12
• OMIM: 0

Protein Summary

• Protein general information: Q6P444  
  • Name: Mitochondrial fission regulator 2 (DUF729 domain containing protein 1)
  • Length: 385  
  • Mass: 43384
• Sequence:

  MSLILNILREMLEYFGVPVEQVLLIWENKDYGSTRSIVRIIGKMLPLEPCRRPNFELIPLLNSVDSDNCGSMVPS
  FADILYVANDEEASYLRFRNSIWKNEEEKVEIFHPLRLVRDPLSPAVRQKETVKNDLPVNEAAIRKIAALENELT
  FLRSQIAAIVEMQELKNSTNSSSFGLSDERISLGQLSSSRAAHLSVDPDQLPGSVLSPPPPPPLPPQFSSLQPPC
  FPPVQPGSNNICDSDNPATEMSKQNPAANKTNYSHHSKSQRNKDIPNMLDVLKDMNKVKLRAIERSPGGRPIHKR
  KRQNSHWDPVSLISHALKQKFAFQEDDSFEKENRSWESSPFSSPETSRFGHHISQSEGQRTKEEMVNTKAVDQGI
  SNTSLLNSRI

• Structural information:
  • Interpro: IPR007972  
  • STRING: ENSP00000395232
• Other Databases: GeneCards:  MTFR2  Malacards:  MTFR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000266	mitochondrial fission	IBA	biological process
GO:0009060	aerobic respiration	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0009060	aerobic respiration	ISS	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0000266	mitochondrial fission	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0009060	aerobic respiration	IEA	biological process
GO:0007005	mitochondrion organization	IEA	biological process
GO:0000266	mitochondrial fission	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray