• Gene id: 125170

Gene Summary

• Gene Symbol: MIEF2   Gene   UCSC   Ensembl
• Aliases: MID49, SMCR7
• Gene name: mitochondrial elongation factor 2
• Alternate names: mitochondrial dynamics protein MID49, Smith-Magenis syndrome chromosomal region candidate gene 7 protein, Smith-Magenis syndrome chromosome region, candidate 7, mitochondrial dynamic protein MID49, mitochondrial dynamic protein of 49 kDa, mitochondrial dynamic,
• Gene location: 17p11.2 (18260661: 18266551)     Exons: 11     NC_000017.11
• Gene summary(Entrez): This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within
• OMIM: 615498

Protein Summary

• Protein general information: Q96C03  
  • Name: Mitochondrial dynamics protein MID49 (Mitochondrial dynamics protein of 49 kDa) (Mitochondrial elongation factor 2) (Smith Magenis syndrome chromosomal region candidate gene 7 protein)
  • Length: 454  
  • Mass: 49269
  • Tissue specificity: Expressed in all tissues tested with highest expression in heart and skeletal muscle. {ECO
• Sequence:

  MAEFSQKRGKRRSDEGLGSMVDFLLANARLVLGVGGAAVLGIATLAVKRFIDRATSPRDEDDTKADSWKELSLLK
  ATPHLQPRPPPAALSQPVLPLAPSSSAPEGPAETDPEVTPQLSSPAPLCLTLQERLLAFERDRVTIPAAQVALAK
  QLAGDIALELQAYFRSKFPELPFGAFVPGGPLYDGLQAGAADHVRLLVPLVLEPGLWSLVPGVDTVARDPRCWAV
  RRTQLEFCPRGSSPWDRFLVGGYLSSRVLLELLRKALAASVNWPAIGSLLGCLIRPSMASEELLLEVQHERLELT
  VAVLVAVPGVDADDRLLLAWPLEGLAGNLWLQDLYPVEAARLRALDDHDAGTRRRLLLLLCAVCRGCSALGQLGR
  GHLTQVVLRLGEDNVDWTEEALGERFLQALELLIGSLEQASLPCHFNPSVNLFSSLREEEIDDIGYALYSGLQEP
  EGLL

• Structural information:
  • Interpro: IPR024810  
  • PDB: 5WP9
  • PDBsum: 5WP9
  • STRING: ENSP00000379057
• Other Databases: GeneCards:  MIEF2  Malacards:  MIEF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090141	positive regulation of mitochondrial fission	IBA	biological process
GO:0005741	mitochondrial outer membrane	IBA	cellular component
GO:0003374	dynamin family protein polymerization involved in mitochondrial fission	IDA	biological process
GO:0007005	mitochondrion organization	IDA	biological process
GO:0090314	positive regulation of protein targeting to membrane	IDA	NOT|biological process
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:0005741	mitochondrial outer membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:0090141	positive regulation of mitochondrial fission	TAS	biological process
GO:0008053	mitochondrial fusion	IMP	NOT|biological process
GO:0005777	peroxisome	TAS	NOT|cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0090141	positive regulation of mitochondrial fission	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq