COX7A2L (cytochrome c oxidase subunit 7A2 like)

2003-06-01  

Identity

HGNC
LOCATION
2p21
LOCUSID
ALIAS
COX7AR,COX7RP,EB1,SCAF1,SCAFI,SIG81
FUSION GENES

Other Information

Locus ID:

NCBI: 9167
MIM: 605771
HGNC: 2289
Ensembl: ENSG00000115944

Variants:

dbSNP: 9167
ClinVar: 9167
TCGA: ENSG00000115944
COSMIC: COX7A2L

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115944ENST00000234301O14548
ENSG00000115944ENST00000234301Q6FGA0
ENSG00000115944ENST00000378669O14548
ENSG00000115944ENST00000378669Q6FGA0
ENSG00000115944ENST00000463055E5RJZ1
ENSG00000115944ENST00000464443E5RFH8
ENSG00000115944ENST00000468711H0YBD2

Expression (GTEx)

0
10
20
30
40
50
60
70

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
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
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

References

Pubmed IDYearTitleCitations
362536182022COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.3
362536182022COX7A2L genetic variants determine cardiorespiratory fitness in mice and human.3
304283482018Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics.31
304283482018Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics.31
275458862016COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.47
275508212016COX7AR is a Stress-inducible Mitochondrial COX Subunit that Promotes Breast Cancer Malignancy.19
275458862016COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.47
275508212016COX7AR is a Stress-inducible Mitochondrial COX Subunit that Promotes Breast Cancer Malignancy.19
203072582010Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.44
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
203072582010Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.44
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.29
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22

Citation

Dessen P

COX7A2L (cytochrome c oxidase subunit 7A2 like)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/40137/cox7a2l