Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TMEM126A Gene

Aliases for TMEM126A Gene

  • Transmembrane Protein 126A 2 3 5
  • OPA7 3

External Ids for TMEM126A Gene

Previous GeneCards Identifiers for TMEM126A Gene

  • GC11P085037
  • GC11P085359
  • GC11P081656

Summaries for TMEM126A Gene

Entrez Gene Summary for TMEM126A 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]

GeneCards Summary for TMEM126A Gene

TMEM126A (Transmembrane Protein 126A) is a Protein Coding gene. Diseases associated with TMEM126A include optic atrophy 7 and autosomal recessive optic atrophy, opa7 type. Among its related pathways are Validated targets of C-MYC transcriptional repression. An important paralog of this gene is TMEM126B.

Gene Wiki entry for TMEM126A Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM126A Gene

Genomics for TMEM126A Gene

Regulatory Elements for TMEM126A Gene

Promoters for TMEM126A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMEM126A on UCSC Golden Path with GeneCards custom track

Genomic Location for TMEM126A Gene

85,647,919 bp from pter
85,656,553 bp from pter
8,635 bases
Plus strand

Genomic View for TMEM126A Gene

Genes around TMEM126A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM126A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM126A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM126A Gene

Proteins for TMEM126A Gene

  • Protein details for TMEM126A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transmembrane protein 126A
    Protein Accession:
    Secondary Accessions:
    • B2R570
    • E9PI16

    Protein attributes for TMEM126A Gene

    195 amino acids
    Molecular mass:
    21527 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TMEM126A Gene


neXtProt entry for TMEM126A Gene

Proteomics data for TMEM126A Gene at MOPED

Post-translational modifications for TMEM126A Gene

  • Ubiquitination at Lys 183 and Lys 192
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM126A Gene

No data available for DME Specific Peptides for TMEM126A Gene

Domains & Families for TMEM126A Gene

Protein Domains for TMEM126A Gene


Suggested Antigen Peptide Sequences for TMEM126A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TMEM126 family.
  • Belongs to the TMEM126 family.
genes like me logo Genes that share domains with TMEM126A: view

No data available for Gene Families for TMEM126A Gene

Function for TMEM126A Gene

Phenotypes for TMEM126A Gene

GenomeRNAi human phenotypes for TMEM126A:
genes like me logo Genes that share phenotypes with TMEM126A: view

Human Phenotype Ontology for TMEM126A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for TMEM126A Gene

miRTarBase miRNAs that target TMEM126A

miRNA Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM126A Gene

Localization for TMEM126A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM126A Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for TMEM126A Gene COMPARTMENTS Subcellular localization image for TMEM126A gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 2
golgi apparatus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TMEM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IEA --
genes like me logo Genes that share ontologies with TMEM126A: view

Pathways & Interactions for TMEM126A Gene

genes like me logo Genes that share pathways with TMEM126A: view

Pathways by source for TMEM126A Gene

1 BioSystems pathway for TMEM126A Gene

Interacting Proteins for TMEM126A Gene

Gene Ontology (GO) - Biological Process for TMEM126A Gene


No data available for SIGNOR curated interactions for TMEM126A Gene

Drugs & Compounds for TMEM126A Gene

No Compound Related Data Available

Transcripts for TMEM126A Gene

Unigene Clusters for TMEM126A Gene

Transmembrane protein 126A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM126A Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for TMEM126A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMEM126A Gene

mRNA expression in normal human tissues for TMEM126A Gene

Protein differential expression in normal tissues from HIPED for TMEM126A Gene

This gene is overexpressed in Nasal epithelium (41.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMEM126A Gene

SOURCE GeneReport for Unigene cluster for TMEM126A Gene Hs.533725

mRNA Expression by UniProt/SwissProt for TMEM126A Gene

Tissue specificity: Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells.
genes like me logo Genes that share expression patterns with TMEM126A: view

Protein tissue co-expression partners for TMEM126A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMEM126A Gene

Orthologs for TMEM126A Gene

This gene was present in the common ancestor of chordates.

Orthologs for TMEM126A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TMEM126A 35
  • 85.22 (n)
  • 82.47 (a)
-- 36
  • 73 (a)
TMEM126A 36
  • 80 (a)
(Canis familiaris)
Mammalia TMEM126A 35
  • 85.64 (n)
  • 80.51 (a)
TMEM126A 36
  • 79 (a)
(Mus musculus)
Mammalia Tmem126a 35
  • 79.49 (n)
  • 71.28 (a)
Tmem126a 16
Tmem126a 36
  • 70 (a)
(Pan troglodytes)
Mammalia TMEM126A 35
  • 99.49 (n)
  • 100 (a)
TMEM126A 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Tmem126a 35
  • 78.12 (n)
  • 70.26 (a)
(Monodelphis domestica)
Mammalia TMEM126A 36
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia TMEM126A 36
  • 52 (a)
(Gallus gallus)
Aves TMEM126A 35
  • 60.26 (n)
  • 46.02 (a)
-- 36
  • 40 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 42 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem126a 35
  • 57.22 (n)
  • 50 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15756 35
(Danio rerio)
Actinopterygii tmem126a 35
  • 54.8 (n)
  • 44.07 (a)
tmem126a 36
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.945 36
  • 17 (a)
Species with no ortholog for TMEM126A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM126A Gene

Gene Tree for TMEM126A (if available)
Gene Tree for TMEM126A (if available)

Paralogs for TMEM126A Gene

Paralogs for TMEM126A Gene

(1) SIMAP similar genes for TMEM126A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMEM126A: view

Variants for TMEM126A Gene

Sequence variations from dbSNP and Humsavar for TMEM126A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs11556797 - 85,654,167(-) CTATG(C/T)GAGCC reference, missense, utr-variant-5-prime
rs610844 -- 85,652,835(+) CAGGC(A/C)AATTG intron-variant
rs673641 -- 85,646,082(-) TGGCC(A/C)ATAAG upstream-variant-2KB
rs673663 -- 85,646,065(-) AAGTT(A/T)AAAAA upstream-variant-2KB
rs639542 -- 85,654,691(+) caggt(A/G)atcca intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM126A Gene

Variant ID Type Subtype PubMed ID
dgv1246n71 CNV Loss 21882294
essv7704 CNV CNV 17122850
esv678 CNV CNV 17122850
essv22464 CNV CNV 17122850

Variation tolerance for TMEM126A Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.71; 32.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TMEM126A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM126A Gene

Disorders for TMEM126A Gene

MalaCards: The human disease database

(6) MalaCards diseases for TMEM126A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy 7
  • optic atrophy-7
autosomal recessive optic atrophy, opa7 type
auditory neuropathy
  • auditory dys-synchrony
  • blind spot area scotoma
optic atrophy plus syndrome
  • optic atrophy
- elite association - COSMIC cancer census association via MalaCards


  • Optic atrophy 7 with or without auditory neuropathy (OPA7) [MIM:612989]: A hereditary condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA7 is an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disk pallor, and central scotoma. Some patients manifest hearing loss. {ECO:0000269 PubMed:19327736}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TMEM126A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TMEM126A: view

No data available for Genatlas for TMEM126A Gene

Publications for TMEM126A Gene

  1. TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. (PMID: 23500070) Hanein S. … Rozet J.M. (Biochim. Biophys. Acta 2013) 2 3 4 67
  2. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. (PMID: 20405026) Meyer E. … Maher E.R. (Mol. Vis. 2010) 3 23
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3
  4. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. (PMID: 22815638) DAcsir J. … Cordonnier M. (Mol. Vis. 2012) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for TMEM126A Gene

Sources for TMEM126A Gene

Back to Top