Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54968
Gene name	Transmembrane protein 70
Gene symbol	TMEM70
Synonyms (NCBI Gene)	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

Show/Hide all (13)

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

194

Show/Hide all (194)

miRTarBase ID	miRNA	Experiments	Reference
MIRT686617	hsa-miR-200b-3p	HITS-CLIP	23313552
MIRT686616	hsa-miR-200c-3p	HITS-CLIP	23313552
MIRT686615	hsa-miR-429	HITS-CLIP	23313552
MIRT686614	hsa-miR-4686	HITS-CLIP	23313552
MIRT686613	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT686612	hsa-miR-8073	HITS-CLIP	23313552
MIRT686611	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT686610	hsa-miR-548ao-5p	HITS-CLIP	23313552
MIRT686609	hsa-miR-548ax	HITS-CLIP	23313552
MIRT686608	hsa-miR-4534	HITS-CLIP	23313552
MIRT686607	hsa-miR-8082	HITS-CLIP	23313552
MIRT686606	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT686605	hsa-miR-4804-3p	HITS-CLIP	23313552
MIRT686604	hsa-miR-4720-3p	HITS-CLIP	23313552
MIRT686603	hsa-miR-4284	HITS-CLIP	23313552
MIRT686602	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT450654	hsa-miR-4635	PAR-CLIP	22100165
MIRT450653	hsa-miR-1257	PAR-CLIP	22100165
MIRT450652	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450651	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450650	hsa-miR-3611	PAR-CLIP	22100165
MIRT450649	hsa-miR-578	PAR-CLIP	22100165
MIRT450648	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT686617	hsa-miR-200b-3p	HITS-CLIP	23313552
MIRT686616	hsa-miR-200c-3p	HITS-CLIP	23313552
MIRT686615	hsa-miR-429	HITS-CLIP	23313552
MIRT686614	hsa-miR-4686	HITS-CLIP	23313552
MIRT686613	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT686612	hsa-miR-8073	HITS-CLIP	23313552
MIRT686611	hsa-miR-149-5p	HITS-CLIP	23313552
MIRT686610	hsa-miR-548ao-5p	HITS-CLIP	23313552
MIRT686609	hsa-miR-548ax	HITS-CLIP	23313552
MIRT686608	hsa-miR-4534	HITS-CLIP	23313552
MIRT686607	hsa-miR-8082	HITS-CLIP	23313552
MIRT686606	hsa-miR-7158-5p	HITS-CLIP	23313552
MIRT686605	hsa-miR-4804-3p	HITS-CLIP	23313552
MIRT686604	hsa-miR-4720-3p	HITS-CLIP	23313552
MIRT686603	hsa-miR-4284	HITS-CLIP	23313552
MIRT686602	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT450654	hsa-miR-4635	PAR-CLIP	22100165
MIRT450653	hsa-miR-1257	PAR-CLIP	22100165
MIRT450652	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT450651	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT450650	hsa-miR-3611	PAR-CLIP	22100165
MIRT450649	hsa-miR-578	PAR-CLIP	22100165
MIRT450648	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT1439046	hsa-miR-1245	CLIP-seq
MIRT1439047	hsa-miR-1264	CLIP-seq
MIRT1439048	hsa-miR-142-3p	CLIP-seq
MIRT1439049	hsa-miR-371-5p	CLIP-seq
MIRT1439050	hsa-miR-371b-5p	CLIP-seq
MIRT1439051	hsa-miR-3973	CLIP-seq
MIRT1439052	hsa-miR-513c	CLIP-seq
MIRT1439053	hsa-miR-514b-5p	CLIP-seq
MIRT1439054	hsa-miR-520g	CLIP-seq
MIRT1439055	hsa-miR-520h	CLIP-seq
MIRT1439056	hsa-miR-582-3p	CLIP-seq
MIRT1439057	hsa-miR-643	CLIP-seq
MIRT1439058	hsa-miR-1224-5p	CLIP-seq
MIRT1439047	hsa-miR-1264	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439060	hsa-miR-191	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439063	hsa-miR-2276	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439066	hsa-miR-3164	CLIP-seq
MIRT1439067	hsa-miR-3200-5p	CLIP-seq
MIRT1439049	hsa-miR-371-5p	CLIP-seq
MIRT1439050	hsa-miR-371b-5p	CLIP-seq
MIRT1439051	hsa-miR-3973	CLIP-seq
MIRT1439068	hsa-miR-4307	CLIP-seq
MIRT1439069	hsa-miR-4490	CLIP-seq
MIRT1439070	hsa-miR-450b-5p	CLIP-seq
MIRT1439071	hsa-miR-4539	CLIP-seq
MIRT1439072	hsa-miR-4649-3p	CLIP-seq
MIRT1439073	hsa-miR-4704-3p	CLIP-seq
MIRT1439074	hsa-miR-4708-3p	CLIP-seq
MIRT1439075	hsa-miR-4751	CLIP-seq
MIRT1439076	hsa-miR-4774-5p	CLIP-seq
MIRT1439077	hsa-miR-4795-3p	CLIP-seq
MIRT1439052	hsa-miR-513c	CLIP-seq
MIRT1439053	hsa-miR-514b-5p	CLIP-seq
MIRT1439054	hsa-miR-520g	CLIP-seq
MIRT1439055	hsa-miR-520h	CLIP-seq
MIRT1439078	hsa-miR-548an	CLIP-seq
MIRT1439079	hsa-miR-567	CLIP-seq
MIRT1439080	hsa-miR-590-3p	CLIP-seq
MIRT1439081	hsa-miR-604	CLIP-seq
MIRT1439082	hsa-miR-617	CLIP-seq
MIRT1439083	hsa-miR-647	CLIP-seq
MIRT1439084	hsa-miR-649	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439077	hsa-miR-4795-3p	CLIP-seq
MIRT1439077	hsa-miR-4795-3p	CLIP-seq
MIRT2131487	hsa-miR-1299	CLIP-seq
MIRT2131488	hsa-miR-1303	CLIP-seq
MIRT2131489	hsa-miR-140-3p	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439060	hsa-miR-191	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT2131490	hsa-miR-326	CLIP-seq
MIRT2131491	hsa-miR-330-5p	CLIP-seq
MIRT2131492	hsa-miR-340	CLIP-seq
MIRT1439068	hsa-miR-4307	CLIP-seq
MIRT2131493	hsa-miR-4453	CLIP-seq
MIRT1439069	hsa-miR-4490	CLIP-seq
MIRT2131494	hsa-miR-4538	CLIP-seq
MIRT2131495	hsa-miR-4661-5p	CLIP-seq
MIRT2131496	hsa-miR-4680-5p	CLIP-seq
MIRT1439076	hsa-miR-4774-5p	CLIP-seq
MIRT1439077	hsa-miR-4795-3p	CLIP-seq
MIRT2131497	hsa-miR-495	CLIP-seq
MIRT1439078	hsa-miR-548an	CLIP-seq
MIRT1439079	hsa-miR-567	CLIP-seq
MIRT2131498	hsa-miR-802	CLIP-seq
MIRT2131499	hsa-miR-875-3p	CLIP-seq
MIRT1439047	hsa-miR-1264	CLIP-seq
MIRT2131489	hsa-miR-140-3p	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439060	hsa-miR-191	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT2352758	hsa-miR-2355-5p	CLIP-seq
MIRT2352759	hsa-miR-23a	CLIP-seq
MIRT2352760	hsa-miR-23b	CLIP-seq
MIRT2352761	hsa-miR-23c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439066	hsa-miR-3164	CLIP-seq
MIRT1439067	hsa-miR-3200-5p	CLIP-seq
MIRT2352762	hsa-miR-3665	CLIP-seq
MIRT2352763	hsa-miR-3691-5p	CLIP-seq
MIRT2352764	hsa-miR-4320	CLIP-seq
MIRT2352765	hsa-miR-4433	CLIP-seq
MIRT2352766	hsa-miR-4459	CLIP-seq
MIRT1439070	hsa-miR-450b-5p	CLIP-seq
MIRT1439072	hsa-miR-4649-3p	CLIP-seq
MIRT2352767	hsa-miR-4666-5p	CLIP-seq
MIRT1439073	hsa-miR-4704-3p	CLIP-seq
MIRT2352768	hsa-miR-4722-5p	CLIP-seq
MIRT2352769	hsa-miR-4752	CLIP-seq
MIRT2352770	hsa-miR-4768-3p	CLIP-seq
MIRT2352771	hsa-miR-4785	CLIP-seq
MIRT2352772	hsa-miR-4789-5p	CLIP-seq
MIRT1439077	hsa-miR-4795-3p	CLIP-seq
MIRT1439078	hsa-miR-548an	CLIP-seq
MIRT1439079	hsa-miR-567	CLIP-seq
MIRT1439056	hsa-miR-582-3p	CLIP-seq
MIRT1439080	hsa-miR-590-3p	CLIP-seq
MIRT1439082	hsa-miR-617	CLIP-seq
MIRT2131499	hsa-miR-875-3p	CLIP-seq
MIRT2352773	hsa-miR-944	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439077	hsa-miR-4795-3p	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439067	hsa-miR-3200-5p	CLIP-seq
MIRT1439072	hsa-miR-4649-3p	CLIP-seq
MIRT1439059	hsa-miR-149	CLIP-seq
MIRT1439061	hsa-miR-200b	CLIP-seq
MIRT1439062	hsa-miR-200c	CLIP-seq
MIRT1439064	hsa-miR-24	CLIP-seq
MIRT1439065	hsa-miR-3134	CLIP-seq
MIRT1439067	hsa-miR-3200-5p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	31652072, 32296183, 33359711, 33753518
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	24576557
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0030061	Component	Mitochondrial crista	IDA	33359711
GO:0031966	Component	Mitochondrial membrane	IBA
GO:0031966	Component	Mitochondrial membrane	IDA	18953340
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	32275929
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IBA
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	IMP	18953340, 31652072, 32275929, 33359711, 33753518
GO:0033615	Process	Mitochondrial proton-transporting ATP synthase complex assembly	ISS
GO:0051259	Process	Protein complex oligomerization	IDA	24576557
GO:0051260	Process	Protein homooligomerization	IDA	33359711
GO:0140260	Function	Mitochondrial proton-transporting ATP synthase complex binding	IDA	32275929

MIM	HGNC	e!Ensembl
612418	26050	ENSG00000175606

Q9BUB7

Protein name

Transmembrane protein 70, mitochondrial

Protein function

Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC1 through its interaction (PubMed:3

Family and domains

Pfam

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

Tissue specificity

TISSUE SPECIFICITY: Lower expressed in the heart than in the liver (at protein level). {ECO:0000269|PubMed:31652072}.

Sequence

MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAA
RLLRRPGRAQIPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLT
FLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYK
AITYNAMLAETSTVFHQNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHLMGYDK
EEFILYMEETSEEKRHKDDK

Sequence length

260

Interactions

View interactions

317

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	Pathogenic; Likely pathogenic	rs1563697094, rs774638624, rs2131236556, rs1376883697, rs2131236570, rs183973249, rs1444024910, rs1374036185, rs2536392822, rs2536395943, rs796052056, rs2536395934, rs2536389836, rs2536392852, rs980904190 View all (7 more)	RCV001387729 RCV002004397 RCV002031623 RCV001982891 RCV001958784 RCV000000570 RCV003050567 RCV003077637 RCV002611791 RCV002576421 RCV000678391 RCV003005005 RCV003527420 RCV003642335 RCV003642285 RCV000023947 RCV000023948 RCV001050497 RCV000578353 RCV000995903 RCV003640949 RCV001205548
Mitochondrial proton-transporting ATP synthase complex deficiency	Pathogenic	rs796052056	RCV000825576
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs183973249	RCV003389034
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs183973249	RCV005887143
Papillary renal cell carcinoma type 1	Likely pathogenic; Pathogenic	rs183973249	RCV005887142
See cases	Likely pathogenic; Pathogenic	rs183973249	RCV003128385
TMEM70-related disorder	Likely pathogenic; Pathogenic	rs183973249	RCV003415606

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autosomal recessive disease	Conflicting classifications of pathogenicity	rs113669789	RCV005625305
Cholangiocarcinoma	Benign	rs73687119	RCV005923324
Hepatocellular carcinoma	Benign	rs73687119	RCV005923321
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs35564486	RCV005890874
Uterine carcinosarcoma	Benign	rs73687119	RCV005923323

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Methylglutaconic Aciduria	Associate	20335238, 26550569
Acidosis Lactic	Associate	20335238
Adenocarcinoma of Lung	Associate	37976568
Breast Neoplasms	Associate	20139910
Cardiomyopathy Hypertrophic	Associate	20335238
Cryptorchidism	Associate	20335238
Dyslexia Acquired	Associate	20335238
Hypospadias	Associate	20335238
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Associate	30950220
Mitochondrial Diseases	Associate	26550569, 30950220
Mitochondrial Myopathies	Associate	20335238
Muscle Hypotonia	Associate	20335238
Status Asthmaticus	Associate	26550569

TMEM70 (transmembrane protein 70)