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    TMEM126A transmembrane protein 126A [ Homo sapiens (human) ]

    Gene ID: 84233, updated on 14-Nov-2024

    Summary

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    Official Symbol
    TMEM126Aprovided by HGNC
    Official Full Name
    transmembrane protein 126Aprovided by HGNC
    Primary source
    HGNC:HGNC:25382
    See related
    Ensembl:ENSG00000171202 MIM:612988; AllianceGenome:HGNC:25382
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OPA7
    Summary
    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]
    Expression
    Ubiquitous expression in heart (RPKM 18.8), testis (RPKM 17.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM126A in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (85647967..85656542)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (85584644..85593220)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85359011..85367586)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene discs large MAGUK scaffold protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:85248765-85249264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:85250835-85251373 Neighboring gene RNA, U6 small nuclear 1292, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:85317081-85318280 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:85319023-85319982 Neighboring gene MPRA-validated peak1373 silencer Neighboring gene MPRA-validated peak1374 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5362 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:85338434-85338942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85383205-85383705 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85396033-85396534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:85396535-85397034 Neighboring gene transmembrane protein 126B Neighboring gene CREB/ATF bZIP transcription factor Neighboring gene coiled-coil domain containing 89

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. Meyer E, et al. Mol Vis, 2010 Apr 13. PMID 20405026, Free PMC Article
    2. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. Désir J, et al. Mol Vis, 2012. PMID 22815638, Free PMC Article
    3. TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. Hanein S, et al. Biochim Biophys Acta, 2013 Jun. PMID 23500070
    4. Loss of TMEM126A promotes extracellular matrix remodeling, epithelial-to-mesenchymal transition, and breast cancer metastasis by regulating mitochondrial retrograde signaling. Sun HF, et al. Cancer Lett, 2019 Jan. PMID 30393159
    5. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. Kloth K, et al. BMC Med Genet, 2019 Apr 8. PMID 30961538, Free PMC Article

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
      Title: NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
    2. Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
      Title: Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
    3. The loss of TMEM126A activated extracellular matrix (ECM) remodeling and promoted epithelial-to-mesenchymal transition (EMT). Moreover, TMEM126A silencing induced reactive oxygen species (ROS) production and mitochondrial membrane potential depolarization.
      Title: Loss of TMEM126A promotes extracellular matrix remodeling, epithelial-to-mesenchymal transition, and breast cancer metastasis by regulating mitochondrial retrograde signaling.
    4. Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
      Title: Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
    5. TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane
      Title: TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.
    6. The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy.
      Title: TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described.
      Title: Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.
    9. TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.
      Title: TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal recessive optic atrophy, OPA7 type
    MedGen: C2751812 OMIM: 612989 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp586C1924

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in mitochondrial protein quality control IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in optic nerve development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein insertion into mitochondrial inner membrane from matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in toll-like receptor 4 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 126A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_017157.2 RefSeqGene

      Range
      5049..13624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244735.2 → NP_001231664.1  transmembrane protein 126A isoform 2

      See identical proteins and their annotated locations for NP_001231664.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1 by lacking the exon containing the translation start site. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      CD366181, DB454483
      Consensus CDS
      CCDS58165.1
      UniProtKB/Swiss-Prot
      Q9H061
      Related
      ENSP00000436590.1, ENST00000528105.5
      Conserved Domains (1) summary
      pfam07114
      Location:1 → 116
      TMEM126; Transmembrane protein 126

    2. NM_032273.4 → NP_115649.1  transmembrane protein 126A isoform 1

      See identical proteins and their annotated locations for NP_115649.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK312081, AP000642, DB454483
      Consensus CDS
      CCDS8268.1
      UniProtKB/Swiss-Prot
      B2R570, E9PI16, Q9H061
      Related
      ENSP00000306887.2, ENST00000304511.7
      Conserved Domains (1) summary
      pfam07114
      Location:11 → 186
      TMEM126; Transmembrane protein 126

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      85647967..85656542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      85584644..85593220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H061.1 GenPept UniProtKB/Swiss-Prot:Q9H061

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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