Property Summary

NCBI Gene PubMed Count 24
PubMed Score 24.89
PubTator Score 32.59

Knowledge Summary


No data available


  Differential Expression (14)

Disease log2 FC p
Multiple myeloma 1.628 3.8e-03
astrocytic glioma -1.800 5.2e-03
ependymoma -1.600 1.6e-02
oligodendroglioma -1.400 2.1e-02
osteosarcoma 1.122 3.3e-04
medulloblastoma -1.100 1.3e-04
hereditary spastic paraplegia -1.661 8.4e-03
acute quadriplegic myopathy -1.300 4.4e-03
pancreatic ductal adenocarcinoma liver m... -1.792 2.1e-02
non primary Sjogren syndrome sicca 1.200 2.2e-02
Pick disease -1.300 1.1e-04
Breast cancer 1.200 3.4e-06
invasive ductal carcinoma 1.100 1.2e-02
ovarian cancer 1.700 7.5e-03

Gene RIF (19)

26550569 In summary, TMEM70 mutations can cause distinct ultrastructural mitochondrial degeneration and almost complete deficiency of ATP synthase but are still amenable to treatment.
25326274 TMEM70 deficiency is a panethnic, multisystemic disease with variable outcome depending mainly on adequate management of hyperammonaemic crises in the neonatal period and early childhood.
24576557 These data indicate that the biological function of TMEM70 in the ATP synthase biogenesis may be mediated through interaction with other protein(s).
24485043 Pulmonary hypertension has rarely been reported in mitochondrial disorders and, so far, it has been described in association with TMEM70 deficiency only in one patient
22986587 this study suggests that mutant TMEM70 associates in high molecular weight complexes (470-550 kDa) when expressed in Hela cells and exerts a direct action in ATP synthase biogenesis and assembly, mediating the incorporation of F1 moieties.
22433607 Fibroblasts from 10 patients with TMEM70 317-2A>G homozygous mutation showed a significant 82-89% decrease of ATP synthase and 50-162% increase of respiratory chain complex IV and 22-53% increase of complex III.
21945727 The authors report a fragmented mitochondrial network and swollen and irregularly shaped mitochondria with partial to complete loss of the cristae in fibroblasts of a patient with a novel TMEM70 gene deletion.
21815885 TMEM70 mutations are involved in the pathogenesis of 3-methylglutaconic acid (3-MGA) acydoses in populations of different ethnic origin and become a useful genetic marker for this disease.
21147908 The study identifies TMEM70 gene defect as a pan-ethnic disorder and further redefines it as the most common cause of nuclear-origin ATP synthase deficiency.
20937241 No TMEM70 protein could be found in cells and isolated mitochondria from patients with ATP synthase deficiency due to TMEM70 c.317-single nucleotide polymorphism mutation.
20920610 Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20335238 ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of ill neonates with early onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria.
20237496 Observational study of gene-disease association. (HuGE Navigator)
20200953 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19103153 Gene mapping and complementation studies have identified mutations in TMEM70 gene encoding a 30kD mitochondrial protein of unknown function as the cause of hypertrophic cardiomyopathy and encephalopathy.
18953340 TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes.

AA Sequence


Text Mined References (27)

PMID Year Title
26550569 2015 ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25326274 2015 TMEM70 deficiency: long-term outcome of 48 patients.
24576557 2014 Mitochondrial membrane assembly of TMEM70 protein.
24485043 2014 Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
22986587 2012 TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
22433607 2012 Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
21945727 2011 Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
21815885 2011 Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
21269460 2011 Initial characterization of the human central proteome.
21147908 2011 TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
20937241 2011 Expression and processing of the TMEM70 protein.
20920610 2011 Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20335238 2010 Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20200953 2010 Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19103153 2009 TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.
18953340 2008 TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.