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Aliases for TMEM126A Gene

Aliases for TMEM126A Gene

  • Transmembrane Protein 126A 2 3
  • OPA7 3 6

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

Genomic Location for TMEM126A Gene

Start:
85,647,919 bp from pter
End:
85,656,553 bp from pter
Size:
8,635 bases
Orientation:
Plus strand

Genomic View for TMEM126A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q9H061-T126A_HUMAN
    Recommended name:
    Transmembrane protein 126A
    Protein Accession:
    Q9H061
    Secondary Accessions:
    • B2R570
    • E9PI16

    Protein attributes for TMEM126A Gene

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

    Alternative splice isoforms for TMEM126A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TMEM126A Gene

Proteomics data for TMEM126A Gene at MOPED

Post-translational modifications for TMEM126A Gene

  • Ubiquitination at Lys183 and Lys192
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM126A Gene

No data available for DME Specific Peptides for TMEM126A Gene

Domains for TMEM126A Gene

Protein Domains for TMEM126A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM126A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H061

UniProtKB/Swiss-Prot:

T126A_HUMAN :
  • Q9H061
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

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

Phenotypes for TMEM126A Gene

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

miRNA for TMEM126A Gene

miRTarBase miRNAs that target TMEM126A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for TMEM126A Gene COMPARTMENTS Subcellular localization image for TMEM126A gene
Compartment Confidence
mitochondrion 5
cytosol 2
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:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM126A: view

Pathways 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

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

Transcripts for TMEM126A Gene

Unigene Clusters for TMEM126A Gene

Transmembrane protein 126A:
Representative Sequences:

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
TMEM126A
ECgene alternative splicing isoforms for
TMEM126A

Expression for TMEM126A Gene

mRNA expression in normal human tissues for TMEM126A Gene

Integrated Proteomics: protein expression 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

Q9H061-T126A_HUMAN
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 expressions with TMEM126A: view

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
chimpanzee
(Pan troglodytes)
Mammalia TMEM126A 35
  • 99.49 (n)
  • 100 (a)
TMEM126A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 73 (a)
OneToMany
TMEM126A 35
  • 85.22 (n)
  • 82.47 (a)
TMEM126A 36
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TMEM126A 35
  • 85.64 (n)
  • 80.51 (a)
TMEM126A 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem126a 35
  • 79.49 (n)
  • 71.28 (a)
Tmem126a 16
Tmem126a 36
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TMEM126A 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM126A 36
  • 52 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem126a 35
  • 78.12 (n)
  • 70.26 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 40 (a)
OneToMany
TMEM126A 35
  • 60.26 (n)
  • 46.02 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 42 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.15756 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem126a 35
  • 57.22 (n)
  • 50 (a)
zebrafish
(Danio rerio)
Actinopterygii tmem126a 35
  • 54.8 (n)
  • 44.07 (a)
tmem126a 36
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.945 36
  • 17 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TMEM126A (if available)
TreeFam:
Gene Tree for TMEM126A (if available)

Paralogs for TMEM126A Gene

Paralogs for TMEM126A Gene

Selected 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 MAF
rs610844 -- 85,652,835(+) CAGGC(A/C)AATTG intron-variant
rs639542 -- 85,654,691(+) caggt(A/G)atcca intron-variant
rs671994 -- 85,653,366(-) TTTCA(C/T)TACTC intron-variant
rs673641 -- 85,646,082(-) TGGCC(A/C)ATAAG upstream-variant-2KB
rs673663 -- 85,646,065(-) AAGTT(A/T)AAAAA upstream-variant-2KB

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

Relevant External Links for TMEM126A Gene

HapMap Linkage Disequilibrium report
TMEM126A
Human Gene Mutation Database (HGMD)
TMEM126A

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

Disorders for TMEM126A Gene

(1) OMIM Diseases for TMEM126A Gene (612988)

UniProtKB/Swiss-Prot

T126A_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for TMEM126A Gene

Relevant External Links for TMEM126A

Genetic Association Database (GAD)
TMEM126A
Human Genome Epidemiology (HuGE) Navigator
TMEM126A
genes like me logo Genes that share disorders with TMEM126A: view

Publications for TMEM126A Gene

  1. 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
  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. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal- recessive nonsyndromic optic atrophy. (PMID: 19327736) Hanein S. … Rozet J.M. (Am. J. Hum. Genet. 2009) 3 4
  4. A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (PMID: 19570815) Estrada K. … Kayser M. (Hum. Mol. Genet. 2009) 3 48
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for TMEM126A Gene

Sources for TMEM126A Gene

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