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

Gene ID: 84233, updated on 3-May-2025
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
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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Associated conditions

Description Tests
Autosomal recessive optic atrophy, OPA7 type
MedGen: C2751812 OMIM: 612989 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Clone Names

  • DKFZp586C1924
Preferred Names
transmembrane protein 126A
Names
optic atrophy 7

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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_001244735.2NP_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)