TMEM126B (transmembrane protein 126B)

2014-11-01  

Identity

HGNC
LOCATION
11q14.1
LOCUSID
ALIAS
HT007,MC1DN29
FUSION GENES

Other Information

Locus ID:

NCBI: 55863
MIM: 615533
HGNC: 30883
Ensembl: ENSG00000171204

Variants:

dbSNP: 55863
ClinVar: 55863
TCGA: ENSG00000171204
COSMIC: TMEM126B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171204ENST00000358867Q8IUX1
ENSG00000171204ENST00000393375Q8IUX1
ENSG00000171204ENST00000393375A0A024R5L4
ENSG00000171204ENST00000526822E9PKZ7
ENSG00000171204ENST00000528361E9PKZ9
ENSG00000171204ENST00000529197E9PKZ9
ENSG00000171204ENST00000530783E9PJQ6
ENSG00000171204ENST00000530901H0YEG5
ENSG00000171204ENST00000531274H0YD74
ENSG00000171204ENST00000531477E9PJQ6
ENSG00000171204ENST00000531718E9PKZ9
ENSG00000171204ENST00000534341Q8IUX1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
273747742016Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.14
273747732016Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.9
294642842018Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia.7

Citation

Dessen P

TMEM126B (transmembrane protein 126B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74788/tmem126b