TMEM70 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | TMEM70 |
| Official Name | transmembrane protein 70 [Source:HGNC Symbol;Acc:HGNC:26050] |
| Ensembl ID | ENSG00000175606 |
| Bio databases IDs | |
| Aliases | transmembrane protein 70 |
| Synonyms | 1110020A09Rik, 2210416J16Rik, MC5DN2, RGD1566224, transmembrane protein 70 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TMEM70 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- binding protein
- protein binding
- TMEM70/TMEM186/TMEM223 protein family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodevelopmental disorder
- mitochondrial complex V deficiency nuclear type 2
- epileptic seizure
- hereditary disorder
- mitochondrial disorder
- nuclear-encoded mitochondrial complex V deficiency
regulated by
- HNRNPH1
- ASPSCR1-TFE3
- levodopa
regulates
- Mitochondrial ETC 1
- ATP synthase
role in cell
- assembly in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial membrane
- mitochondrial inner membrane
- nucleoplasm
- mitoplasts
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TMEM70 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial proton-transporting ATP synthase complex assembly
- protein homooligomerization
- protein oligomerization
Cellular Component
Where in the cell the gene product is active
- mitochondrial membrane
- mitochondrial crista
- mitochondrion
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding