COX7B (cytochrome c oxidase subunit 7B)

2007-04-01 Affiliation

Identity

HGNC

COX7B

LOCATION

Xq21.1

LOCUSID

1349

ALIAS

APLCC,LSDMCA2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1349
MIM: 300885
HGNC: 2291
Ensembl: ENSG00000131174

Variants:

dbSNP: 1349
ClinVar: 1349
TCGA: ENSG00000131174
COSMIC: COX7B

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000131174	ENST00000373335	A0A3B3IRN8
ENSG00000131174	ENST00000475465	A0A3B3ITX0
ENSG00000131174	ENST00000647835	A0A3B3ISY5
ENSG00000131174	ENST00000650309	P24311

Expression (GTEx)

100

150

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Metabolic pathways	KEGG	hsa01100
Cytochrome c oxidase	KEGG	hsa_M00154
Cytochrome c oxidase	KEGG	M00154
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Metabolic Genes	REACTOME	R-HSA-5628897
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Respiratory electron transport	REACTOME	R-HSA-611105

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20307258	2010	Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.	36
23122588	2012	Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.	34
30367559	2018	Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63.	3
22860893	2013	Interleukin-24 mediates apoptosis in human B-cells through early activation of cell cycle arrest followed by late induction of the mitochondrial apoptosis pathway.	2

Citation

Dessen P

COX7B (cytochrome c oxidase subunit 7B)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46806/cox7b-(cytochrome-c-oxidase-subunit-7b)