COX11 (cytochrome c oxidase copper chaperone COX11)

2013-05-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
COX11P

Other Information

Locus ID:

NCBI: 1353
MIM: 603648
HGNC: 2261
Ensembl: ENSG00000166260

Variants:

dbSNP: 1353
ClinVar: 1353
TCGA: ENSG00000166260
COSMIC: COX11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166260ENST00000299335Q9Y6N1
ENSG00000166260ENST00000571584B4DI26
ENSG00000166260ENST00000572558Q9Y6N1
ENSG00000166260ENST00000574821I3L4E7
ENSG00000166260ENST00000576370Q9Y6N1

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Oxidative phosphorylationKEGGhsa00190
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
380719642024LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis through the miR-223-3p/COX11 Axis.0
380719642024LncRNA FGD5-AS1 Alleviates Inflammation in Allergic Rhinitis through the miR-223-3p/COX11 Axis.0
380689602023Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.1
380689602023Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.1
357723522022Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer.0
360305512022Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.6
357723522022Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer.0
360305512022Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.6
344002852021RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11.6
344002852021RANBP2 mutation causing autosomal dominant acute necrotizing encephalopathy attenuates its interaction with COX11.6
228639682012Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls.7
228639682012Association of STXBP4/COX11 rs6504950 (G>A) polymorphism with breast cancer risk: evidence from 17,960 cases and 22,713 controls.7
206016762010Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.59
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
206016762010Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.59

Citation

Dessen P

COX11 (cytochrome c oxidase copper chaperone COX11)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53272/cox11-(cytochrome-c-oxidase-copper-chaperone-cox11)