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
203072582010Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.36
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
275458862016COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.21
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
304283482018Human COX7A2L Regulates Complex III Biogenesis and Promotes Supercomplex Organization Remodeling without Affecting Mitochondrial Bioenergetics.8
275508212016COX7AR is a Stress-inducible Mitochondrial COX Subunit that Promotes Breast Cancer Malignancy.7

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