• Gene id: 54968

Gene Summary

• Gene Symbol: TMEM70   Gene   UCSC   Ensembl
• Aliases: MC5DN2
• Gene name: transmembrane protein 70
• Alternate names: transmembrane protein 70, mitochondrial,
• Gene location: 8q21.11 (73976141: 73982782)     Exons: 4     NC_000008.11
• Gene summary(Entrez): This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase
• OMIM: 612418

Protein Summary

• Protein general information: Q9BUB7  
  • Name: Transmembrane protein 70, mitochondrial
  • Length: 260  
  • Mass: 28969
• Sequence:

  MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAARLLRRPGRAQIPVYW
  EGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPIQIIFYGIMGS
  FTVITPVLLHFITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVL
  FPNREDYIHLMGYDKEEFILYMEETSEEKRHKDDK

• Structural information:
  • Interpro: IPR009724  
  • STRING: ENSP00000312599
• Other Databases: GeneCards:  TMEM70  Malacards:  TMEM70

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0032592	integral component of mitochondrial membrane	IDA	cellular component
GO:0033615	mitochondrial proton-transporting ATP synthase complex assembly	IMP	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
ATP synthase deficiency	KEGG:H01369
Secondary hyperammonemia	KEGG:H01400
ATP synthase deficiency	KEGG:H01369
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			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