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

Gene ID: 84233, updated on 8-May-2016
Official Symbol
TMEM126Aprovided by HGNC
Official Full Name
transmembrane protein 126Aprovided by HGNC
Primary source
HGNC:HGNC:25382
See related
Ensembl:ENSG00000171202 HPRD:13216; MIM:612988; Vega:OTTHUMG00000166975
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]
Orthologs
Location:
11q14.1
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 DEAH-box helicase 9 pseudogene Neighboring gene transmembrane protein 126B Neighboring gene CREB/ATF bZIP transcription factor Neighboring gene coiled-coil domain containing 89

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Optic atrophy 7
MedGen: C2751812 OMIM: 612989 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

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
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 IDA
Inferred from Direct Assay
more info
PubMed 

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_017157.1 RefSeqGene

    Range
    5001..13635
    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, OTTHUMP00000234600, ENST00000528105, OTTHUMT00000392175
    Conserved Domains (1) summary
    pfam07114
    Location:1121
    DUF1370; Protein of unknown function (DUF1370)
  2. NM_032273.3NP_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, OTTHUMP00000234602, ENST00000304511, OTTHUMT00000392177
    Conserved Domains (1) summary
    pfam07114
    Location:5191
    DUF1370; Protein of unknown function (DUF1370)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    85243754..85252388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)