TMEM70 (transmembrane protein 70)

Gene

• Entrez ID: 54968
• Gene name: Transmembrane protein 70
• Gene symbol: TMEM70
• Synonyms: MC5DN2
• Chromosome: 8
• Chromosome location: 8q21.11
• Summary: 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 deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs113669789	C>T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs183973249	A>G,T	Pathogenic	Splice acceptor variant
rs199655842	T>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs200820631	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs387907070	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs746973761	AGAA>-	Likely-pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs777501387	CA>-	Pathogenic	Frameshift variant, 3 prime UTR variant, non coding transcript variant, coding sequence variant
rs796052055	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 3 prime UTR variant, missense variant
rs796052056	->GT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1411381518	->T	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1426201422	T>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1554599411	->T	Pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant, non coding transcript variant
rs1586636643	T>A	Pathogenic	3 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT450648	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT450649	hsa-miR-578	PAR-CLIP	22100165
MIRT450650	hsa-miR-3611	PAR-CLIP	22100165
MIRT450651	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450652	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450653	hsa-miR-1257	PAR-CLIP	22100165
MIRT450654	hsa-miR-4635	PAR-CLIP	22100165
MIRT686602	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT686603	hsa-miR-4284	HITS-CLIP	23313552
MIRT686604	hsa-miR-4720-3p	HITS-CLIP	23313552
MIRT686605	hsa-miR-4804-3p	HITS-CLIP	23313552
MIRT686606	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT686607	hsa-miR-8082	HITS-CLIP	23313552
MIRT686608	hsa-miR-4534	HITS-CLIP	23313552
MIRT686609	hsa-miR-548ax	HITS-CLIP	23313552
MIRT686610	hsa-miR-548ao-5p	HITS-CLIP	23313552
MIRT686611	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT686612	hsa-miR-8073	HITS-CLIP	23313552
MIRT686613	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT686614	hsa-miR-4686	HITS-CLIP	23313552
MIRT686615	hsa-miR-429	HITS-CLIP	23313552
MIRT686616	hsa-miR-200c-3p	HITS-CLIP	23313552
MIRT686617	hsa-miR-200b-3p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0032592	Component	Integral component of mitochondrial membrane	IBA	21873635
GO:0032592	Component	Integral component of mitochondrial membrane	IDA	18953340
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IBA	21873635
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IMP	18953340

Other IDs

• MIM: 612418
• HGNC: 26050
• e!Ensembl: ENSG00000175606

Protein

• UniProt ID: Q9BUB7
• Protein name: Transmembrane protein 70, mitochondrial
• Protein function: Involved in biogenesis of mitochondrial ATP synthase.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06979	TMEM70	107 → 240	Assembly, mitochondrial proton-transport ATP synth complex	Family

• Sequence:

  MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAA
  RLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLT
  FLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYK
  AITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDK
  EEFILYMEETSEEKRHKDDK

• Sequence length: 260

Associated diseases

Disease name	Disease term	References
	Cardiomyopathies, Primary	18953340
	Cardiomyopathies	18953340
	Cerebral cortical atrophy
	Congenital exomphalos
	Congestive heart failure
	Cryptorchidism
	Global developmental delay
	Encephalitis
	Encephalopathies
	Gastroparesis
	Hepatocellular Adenoma	27914986
	Hypertensive disease
	Hypertrophic Cardiomyopathy
	Hypospadias
	Severe intellectual disability	24485043, 21147908, 18953340
	Moderate intellectual disability
	Isolated ATP synthase deficiency	20920610, 25326274, 20335238, 18953340
	Leukoencephalopathy
	Liver carcinoma	27914986
	Macrostomia
	Microcephaly
	Mitochondrial Diseases	27604308
	TMEM70-related mitochondrial encephalo-cardio-myopathy
	Mitochondrial Encephalomyopathies	18953340
	Congenital anomaly of the kidney
	Myocardial Diseases, Secondary	18953340
	Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency	18953340, 21147908, 27604308, 26550569, 21815885, 24485043, 20937241, 22986587, 22433607
	Respiratory Failure