Seroatlas · Human Serome Atlas

TMEM70

Transmembrane protein 70, mitochondrial

Also known as: FLJ20533, TMM70_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BUB7
Gene
TMEM70
Ensembl
ENSG00000175606
Chromosome
8
Canonical length
260 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Mitochondria
Quaternary structure
Homooligomer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

260 residues, UniProt reviewed canonical sequence.

>Q9BUB7|TMEM70
     1  MLFLALGSPW AVELPLCGRR TALCAAAALR GPRASVSRAS SSSGPSGPVA GWSTGPSGAA
    61  RLLRRPGRAQ IPVYWEGYVR FLNTPSDKSE DGRLIYTGNM ARAVFGVKCF SYSTSLIGLT
   121  FLPYIFTQNN AISESVPLPI QIIFYGIMGS FTVITPVLLH FITKGYVIRL YHEATTDTYK
   181  AITYNAMLAE TSTVFHQNDV KIPDAKHVFT TFYAKTKSLL VNPVLFPNRE DYIHLMGYDK
   241  EEFILYMEET SEEKRHKDDK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM70 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
2
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
95 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 95 nTPM
  • liver: 24 nTPM
  • pancreas: 23 nTPM
  • tongue: 19 nTPM
  • heart muscle: 18 nTPM
  • adipose tissue: 18 nTPM

Single-cell type

  • parietal cells: 186 nCPM
  • hofbauer cells: 137 nCPM
  • fallopian tube ciliated cells: 116 nCPM
  • late primary spermatocytes: 109 nCPM
  • decidual stromal cells: 104 nCPM
  • syncytiotrophoblasts: 86 nCPM

Immune cell

  • memory B-cell: 18 nTPM
  • total PBMC: 12 nTPM
  • plasmacytoid DC: 11 nTPM
  • naive B-cell: 11 nTPM
  • naive CD4 T-cell: 10 nTPM
  • intermediate monocyte: 10 nTPM

Brain region

  • cerebral cortex: 9.5 nTPM
  • cerebellum: 8.5 nTPM
  • hippocampal formation: 8.1 nTPM
  • hypothalamus: 7.9 nTPM
  • white matter: 7.7 nTPM
  • pons: 7.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM70.

Disease | AllUniProt

Conditions TMEM70 is implicated in, by any mechanism.

  • Mitochondrial complex V deficiency, nuclear type 2 (MC5DN2) MIM:614052

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 391 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.92
gnomAD pLI
0.03
gnomAD missense Z
0.13
DepMap mean gene effect
-0.16
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM70 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM70 as an antibody target. Whether an autoantibody or antibody against TMEM70 could matter depends on whether native TMEM70 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM70 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TMEM70 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM70. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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