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

Gene ID: 84233, updated on 1-Jun-2020

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
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

Genomic context

See TMEM126A in Genome Data Viewer
Location:
11q14.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (85647919..85656553)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (85358963..85367597)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene discs large MAGUK scaffold protein 2 Neighboring gene RNA, U6 small nuclear 1292, pseudogene 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
Optic atrophy 7
MedGen: C2751812 OMIM: 612989 GeneReviews: Not available
Compare labs

NHGRI 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.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586C1924

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
optic nerve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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_001244735.1NP_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)
    BQ943238, 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
    Q9H061
    Related
    ENSP00000306887.2, ENST00000304511.7
    Conserved Domains (1) summary
    pfam07114
    Location:11186
    TMEM126; Transmembrane protein 126

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    85647919..85656553
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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