TMEM126A (transmembrane protein 126A)

Gene

• Entrez ID: 84233
• Gene name: Transmembrane protein 126A
• Gene symbol: TMEM126A
• Synonyms (NCBI Gene): OPA7
• Chromosome: 11
• Chromosome location: 11q14.1
• 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 RefS

SNPs

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

miRTarBase ID	miRNA	Experiments	Reference
MIRT031436	hsa-miR-16-5p	Proteomics	18668040

Gene ontology (GO)

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
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0021554	Process	Optic nerve development	IMP	19327736
GO:0032979	Process	Protein insertion into mitochondrial inner membrane from matrix	IDA	38199007
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	33879611, 33882309, 38199007
GO:0034142	Process	Toll-like receptor 4 signaling pathway	IEA
GO:0141164	Process	Mitochondrial protein quality control	IDA	38199007

Other IDs

• MIM: 612988
• HGNC: 25382
• e!Ensembl: ENSG00000171202

Protein

• 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:

  MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNV
  TKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVF
  LAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKL
  LIKALQLSEPGKEIH

• Sequence length: 195

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal recessive optic atrophy, OPA7 type	Pathogenic	rs121434508	RCV000000438
TMEM126A-related disorder	Pathogenic	rs121434508	RCV003914788

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign; Likely benign	rs115906592	RCV005893559
Cholangiocarcinoma	Benign	rs17148306	RCV005904285
Clear cell carcinoma of kidney	Uncertain significance	rs201584707	RCV005911230
Colon adenocarcinoma	Benign; Likely benign	rs115906592	RCV005893558
Familial cancer of breast	Benign; Likely benign	rs115906592	RCV005893557
Gastric cancer	Uncertain significance	rs201584707	RCV005911231
Malignant lymphoma, large B-cell, diffuse	Benign	rs17148306	RCV005904283
Melanoma	Uncertain significance	rs142717432	RCV005889922
Optic Atrophy, Recessive	Benign; Uncertain significance	rs201491180, rs762661842, rs886048712	RCV000374334 RCV000286799 RCV000378815
Uterine carcinosarcoma	Benign	rs17148306	RCV005904284
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs115906592	RCV005893560

Associations from Text Mining
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