Version 5.4
Homo sapiens Gene: TMEM126A
Summary
InnateDB Gene IDBG-66431.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TMEM126A
Gene Name transmembrane protein 126A
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000171202
Encoded Proteins
IDBP-66433
transmembrane protein 126A
IDBP-594187
transmembrane protein 126A
IDBP-590929
transmembrane protein 126A
IDBP-583896
transmembrane protein 126A
IDBP-585269
transmembrane protein 126A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation from Orthologs
Summary
PMID 25549946
[Mus musculus] Tmem126a upregulates genes involved in antigen presentation; such as Icam1, MHC II, Cd86 and Cd40, via the Tlr4 signal transduction pathway.
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:85647967-85656547
Strand Forward strand
Band q14.1
Transcripts
ENST00000304511 ENSP00000306887
ENST00000525353 ENSP00000431993
ENST00000528105 ENSP00000436590
ENST00000531366 ENSP00000436723
ENST00000532180 ENSP00000434357
ENST00000528531
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated
Total 9 [view]
Protein-Protein 9 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0021554 optic nerve development
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000030615
View Gene Order
ENSBTAG00000000451
Not yet available
Pathways
NETPATH
REACTOME
KEGG
INOH
PID NCI
myc_represspathway
Validated targets of C-MYC transcriptional repression
Cross-References
SwissProt Q9H061
TrEMBL
UniProt Splice Variant
Entrez Gene 84233
UniGene
RefSeq NM_032273 NM_001244735
HUGO HGNC:25382
OMIM 612988
CCDS CCDS8268 CCDS58165
HPRD 13216
IMGT
EMBL AK312081 AL136941 AP000642 BC007875 CH471076
GenPept AAH07875 BAG35017 CAB66875 EAW75102
RNA Seq Atlas 84233

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca