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TMEM126A (transmembrane protein 126A)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84233
Gene nameGene Name - the full gene name approved by the HGNC.
Transmembrane protein 126A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TMEM126A
SynonymsGene synonyms aliases
OPA7
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.1
SummarySummary of gene provided in NCBI Entrez Gene.
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 RefS
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs36100288 T>G Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, 5 prime UTR variant, synonymous variant
rs121434508 C>T Pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
rs146573578 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs1555208375 T>C Likely-pathogenic Splice donor variant, intron variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT031436 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 19327736
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0016021 Component Integral component of membrane IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9H061
Protein name Transmembrane protein 126A
Protein function Protein required for the cotranslational protein quality control in the inner membrane of the mitochondria (PubMed:38199007). Associates with newly synthesized polypeptides and may act as a chaperone that cooperates with OXA1L for the insertion
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07114 TMEM126
11 → 190
Transmembrane protein 126
Family
Sequence
Sequence length 195
Interactions View interactions
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Optic atrophy Optic Atrophy, OPTIC ATROPHY 7 (disorder), Autosomal recessive optic atrophy, OPA7 type rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 19327736, 22815638, 31119195
Unknown
Disease name Disease term dbSNP ID References
Disorder of eye Disorder of eye
Dyschromatopsia Dyschromatopsia

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