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 name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 126A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM126A
Synonyms (NCBI Gene) Gene synonyms aliases
OPA7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.1
Summary Summary 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
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
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 19327736
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 38199007
Other IDs Other 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
612988 25382 ENSG00000171202
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
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells. {ECO:0000269|PubMed:1932773
Sequence
Sequence length 195
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Optic Atrophy autosomal recessive optic atrophy, opa7 type rs121434508 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Melanoma Melanoma N/A N/A GWAS
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Auditory neuropathy Associate 20405026
Hereditary Motor And Sensory Neuropathy VI Associate 22815638
Mitochondrial complex I deficiency Associate 33879611
Mitochondrial Diseases Associate 33879611
Optic Atrophy Associate 20405026, 22815638, 30961538, 33879611
Optic Atrophy Autosomal Dominant Associate 32855858
Optic Atrophy Hereditary Leber Associate 32855858