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Aliases for TMEM126A Gene

Aliases for TMEM126A Gene

  • Transmembrane Protein 126A 2 3 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 With Or Without Auditory Neuropathy and Scotoma. 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

Additional gene information for TMEM126A Gene

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

Genomics for TMEM126A Gene

GeneHancer (GH) Regulatory Elements for TMEM126A Gene

Promoters and enhancers for TMEM126A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J085646 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 657.5 -0.1 -97 3.2 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 POLR2B ZNF766 TMEM126A CCDC89 CREBZF DLG2 SYTL2 TMEM126B
GH11J085661 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.6 +16.6 16609 5.5 HDGF CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CREBZF TMEM126A EED CCDC89 SYTL2 GC11M085678
GH11J085626 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.9 -19.6 -19643 3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 DLG2 TMEM126B CREBZF EED TMEM126A SYTL2 RNU6-1292P
GH11J085716 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 4.1 +70.6 70558 5 INSM2 SIN3A ZEB1 ZNF335 ZNF366 SCRT2 RCOR1 FOS ZNF362 ZBTB11 SYTL2 CCDC89 CREBZF CCDC83 TMEM126A
GH11J085644 Enhancer 0.4 ENCODE 12.9 -2.6 -2552 1.2 ZNF184 CUX1 TMEM126A CREBZF CCDC89 DLG2 TMEM126B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM126A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM126A gene promoter:
  • FOXD3
  • HFH-3
  • FOXI1
  • Spz1
  • Evi-1
  • Msx-1
  • HTF
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for TMEM126A Gene

Genomic Locations for TMEM126A Gene
8,635 bases
Plus strand
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

Post-translational modifications for TMEM126A Gene

  • Ubiquitination at posLast=192192 and posLast=183183
  • 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

Gene Families for TMEM126A Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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

Function for TMEM126A Gene

Gene Ontology (GO) - Molecular Function for TMEM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TMEM126A: view
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

miRNA for TMEM126A Gene

miRTarBase miRNAs that target TMEM126A

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM126A gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA 19327736
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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

Gene Ontology (GO) - Biological Process for TMEM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021554 optic nerve development IMP 19327736
genes like me logo Genes that share ontologies with TMEM126A: view

No data available for SIGNOR curated interactions for TMEM126A Gene

Drugs & Compounds for TMEM126A Gene

No Compound Related Data Available

Transcripts for TMEM126A Gene

mRNA/cDNA for TMEM126A Gene

Unigene Clusters for TMEM126A Gene

Transmembrane protein 126A:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TMEM126A Gene

Protein tissue co-expression partners for TMEM126A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM126A Gene:


SOURCE GeneReport for Unigene cluster for TMEM126A Gene:


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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM126A Gene

Germ Layers:
  • ectoderm
  • nervous
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TMEM126A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Evidence on tissue expression from 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
(Pan troglodytes)
Mammalia TMEM126A 34 33
  • 99.49 (n)
(Canis familiaris)
Mammalia TMEM126A 34 33
  • 85.64 (n)
(Bos Taurus)
Mammalia TMEM126A 34 33
  • 85.22 (n)
-- 34
  • 73 (a)
(Mus musculus)
Mammalia Tmem126a 16 34 33
  • 79.49 (n)
(Rattus norvegicus)
Mammalia Tmem126a 33
  • 78.12 (n)
(Monodelphis domestica)
Mammalia TMEM126A 34
  • 57 (a)
(Ornithorhynchus anatinus)
Mammalia TMEM126A 34
  • 52 (a)
(Gallus gallus)
Aves TMEM126A 33
  • 60.26 (n)
-- 34
  • 40 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 42 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem126a 33
  • 57.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15756 33
(Danio rerio)
Actinopterygii tmem126a 34 33
  • 54.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.945 34
  • 17 (a)
Species where no ortholog for TMEM126A was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for TMEM126A: view image

Paralogs for TMEM126A Gene

Paralogs for TMEM126A Gene

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

  • T126A_HUMAN
  • E9PI90_HUMAN
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 Variation AA Info Type
rs11556797 benign, uncertain-significance, not specified, Optic Atrophy, Recessive 85,654,167(+) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs115906592 conflicting-interpretations-of-pathogenicity, uncertain-significance, not specified, Optic Atrophy, Recessive 85,655,713(+) G/A intron_variant
rs121434508 pathogenic, Optic atrophy 7 85,654,139(+) C/T 5_prime_UTR_variant, coding_sequence_variant, stop_gained
rs140047528 benign, uncertain-significance, not specified, Optic Atrophy, Recessive 85,654,130(+) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs17148285 benign, Optic Atrophy, Recessive 85,648,028(+) T/A 5_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
esv2759845 CNV gain+loss 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)

Additional Variant Information for TMEM126A Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for TMEM126A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TMEM126A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
optic atrophy 7 with or without auditory neuropathy
  • opa7
  • blind spot area scotoma
optic nerve disease
  • disorder of the second nerve
3-methylglutaconic aciduria, type iii
  • mgca3
- 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.

Additional Disease Information for TMEM126A

Genetic Association Database
Human Genome Epidemiology 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 JM (Biochimica et biophysica acta 2013) 2 3 4 58
  2. Toward 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 research 2001) 2 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. (PMID: 20405026) Meyer E … Maher ER (Molecular vision 2010) 3 22 58
  5. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. (PMID: 19327736) Hanein S … Rozet JM (American journal of human genetics 2009) 3 4 58

Products for TMEM126A Gene

Sources for TMEM126A Gene

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