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

    Gene ID: 84233, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001244735.2NP_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:1116
      TMEM126; Transmembrane protein 126
    2. NM_032273.4NP_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:11186
      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)