Gene
TMEM70
transmembrane protein 70
- HGNC 26050(opens in a new tab)
- Ensembl gene ENSG00000175606(opens in a new tab)
- NCBI Gene 54968(opens in a new tab)
Summary
- Cytogenetic location
- 8q21.11
- Coordinates
- Chromosome 8: 73,976,195–73,982,783 (GRCh38)
- Exons
- 3 exons across 6.6 kb
- Protein
- 260 amino acids
- Also known as
- MC5DN2, FLJ20533
- MANE Select transcript
- ENST00000312184.6NM_017866.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Primary Mitochondrial Disease
- Combined Oxidative Phosphorylation Deficiency
Disorders, usually caused by nuclear genes involved in mitochondrial protein production, that reduce several respiratory chain complexes at once and often cause severe multisystem disease in childhood.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can end a diagnostic search and guide surveillance and supportive care.
- Mitochondrial Respiratory Chain Complex Deficiency
One of 61 genes linked to it
Isolated deficiencies of complex I, II, III, IV or V, caused by variants in nuclear or mitochondrial genes, which can affect the brain, muscles, heart, liver and other energy-demanding organs.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing can end a diagnostic search and guide surveillance of affected organs and avoidance of drugs toxic to mitochondria.
How TMEM70 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2 kb of the gene's 6.6 kb; 783 of those bases code for the protein.
How a genome test reads TMEM70
34
positions in TMEM70 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 6.6 kb of TMEM70, introns included, not only the 2 kb of exons.
Traits linked to TMEM70
The Human Phenotype Ontology lists these as features of the rare conditions TMEM70 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- IQ between 34 and 49
- Moderate global developmental delay
- Aplasia/Hypoplasia of the corpus callosum
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Epilepsy
- Peripheral nerve disease
- Ataxia
Show 4 more traits
Abnormality of head or neck
- Abnormally small head
- Short philtrum
- Receding chin
- Wide mouth
- Flat back of skull
- Flat face
- Long philtrum
- Nasal tip, upturned
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TMEM70 gene: transmembrane protein 70. Retrieved 16 October 2026, from https://dantelabs.com/genes/tmem70
Dante Labs. TMEM70 gene: transmembrane protein 70 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tmem70
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