TMEM126A (transmembrane protein 126A)

2014-11-01  

Identity

HGNC
TMEM126A
LOCATION
11q14.1
LOCUSID
84233
ALIAS
OPA7

Other Information

Locus ID:

NCBI: 84233
MIM: 612988
HGNC: 25382
Ensembl: ENSG00000171202

Variants:

dbSNP: 84233
ClinVar: 84233
TCGA: ENSG00000171202
COSMIC: TMEM126A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171202ENST00000304511Q9H061
ENSG00000171202ENST00000525353E9PIH8
ENSG00000171202ENST00000528105Q9H061
ENSG00000171202ENST00000531366E9PI90
ENSG00000171202ENST00000532180Q9H061

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
193277362009TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
204050262010Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.10
235000702013TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane.7
303931592019Loss of TMEM126A promotes extracellular matrix remodeling, epithelial-to-mesenchymal transition, and breast cancer metastasis by regulating mitochondrial retrograde signaling.4
228156382012TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy.3
309615382019Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.0

Citation

Dessen P

TMEM126A (transmembrane protein 126A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74787/tmem126a