Homo sapiens Gene: TMEM70
Summary
InnateDB Gene IDBG-25817.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM70
Gene Name transmembrane protein 70
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000175606
Encoded Proteins
transmembrane protein 70
transmembrane protein 70
transmembrane protein 70
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:73972437-73982783
Strand Forward strand
Band q21.11
Transcripts
ENST00000312184 ENSP00000312599
ENST00000416961 ENSP00000407695
ENST00000520167
ENST00000523794
ENST00000517439 ENSP00000429467
ENST00000517614
ENST00000519551
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0032592 integral component of mitochondrial membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q9BUB7
TrEMBL
UniProt Splice Variant
Entrez Gene 54968
UniGene Hs.627125 Hs.734792
RefSeq NM_001040613 NM_017866
HUGO HGNC:26050
OMIM 612418
CCDS CCDS47876 CCDS6215
HPRD 07923
IMGT
EMBL AC022868 AK000540 BC002748
GenPept AAH02748 BAA91240
RNA Seq Atlas 54968