COX4I2 (cytochrome c oxidase subunit 4I2)

2007-04-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
COX4,COX4-2,COX4B,COX4L2,COXIV-2,dJ857M17.2

Other Information

Locus ID:

NCBI: 84701
MIM: 607976
HGNC: 16232
Ensembl: ENSG00000131055

Variants:

dbSNP: 84701
ClinVar: 84701
TCGA: ENSG00000131055
COSMIC: COX4I2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131055ENST00000376075Q96KJ9
ENSG00000131055ENST00000376075H6SG14

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932

References

Pubmed IDYearTitleCitations
113115612001Mammalian subunit IV isoforms of cytochrome c oxidase.51
233037882013Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2.40
179377682007Transcription of mammalian cytochrome c oxidase subunit IV-2 is controlled by a novel conserved oxygen responsive element.25
192682752009Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.21
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
311064142019From clinic to mechanism: Proteomics-based assessment of angiogenesis in adrenal pheochromocytoma.0

Citation

Dessen P

COX4I2 (cytochrome c oxidase subunit 4I2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47019/cox4i2