TMEM126A

Protein identityUniProt · HPA

UniProt accession

Q9H061

Gene

TMEM126A

Ensembl

ENSG00000171202

Chromosome

11

Canonical length

195 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

195 residues, UniProt reviewed canonical sequence.

>Q9H061|TMEM126A
     1  MENHKSNNKE NITIVDISRK INQLPEAERN LLENGSVYVG LNAALCGLIA NSLFRRILNV
    61  TKARIAAGLP MAGIPFLTTD LTYRCFVSFP LNTGDLDCET CTITRSGLTG LVIGGLYPVF
   121  LAIPVNGGLA ARYQSALLPH KGNILSYWIR TSKPVFRKML FPILLQTMFS AYLGSEQYKL
   181  LIKALQLSEP GKEIH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM126A 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

4

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

92 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM126A.

Disease | AllUniProt

Conditions TMEM126A is implicated in, by any mechanism.

• Optic atrophy 7 with or without auditory neuropathy (OPA7) MIM:612989

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 176 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive optic atrophy, OPA7 type
• TMEM126A-related disorder
• Optic atrophy

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)

1.33

gnomAD pLI

0

gnomAD missense Z

-0.57

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial protein quality control
• mitochondrial respiratory chain complex I assembly
• optic nerve development
• protein insertion into mitochondrial inner membrane from matrix
• toll-like receptor 4 signaling pathway

Cellular components

• mitochondrial inner membrane
• mitochondrion
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Transmembrane protein 126
• Transmembrane protein 126

KeywordsUniProt

• Membrane
• Mitochondrion
• Mitochondrion inner membrane
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of TMEM126A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• OXA1L