Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1349
Gene name Gene Name - the full gene name approved by the HGNC.	Cytochrome c oxidase subunit 7B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COX7B
Synonyms (NCBI Gene) Gene synonyms aliases	APLCC, LSDMCA2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.	Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397514583	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514584	A>G	Pathogenic	Splice acceptor variant
rs397514585	C>T	Pathogenic	Stop gained, coding sequence variant
rs1557220472	G>C	Likely-pathogenic	Intron variant

Show/Hide all(50)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032325	hsa-let-7b-5p	Proteomics	18668040
MIRT050893	hsa-miR-17-5p	CLASH	23622248
MIRT050687	hsa-miR-18a-5p	CLASH	23622248
MIRT047557	hsa-miR-10a-5p	CLASH	23622248
MIRT042410	hsa-miR-18b-5p	CLASH	23622248
MIRT643121	hsa-miR-4310	HITS-CLIP	23824327
MIRT643120	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT643119	hsa-miR-3653-3p	HITS-CLIP	23824327
MIRT643118	hsa-miR-3658	HITS-CLIP	23824327
MIRT643121	hsa-miR-4310	HITS-CLIP	23824327
MIRT643120	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT643119	hsa-miR-3653-3p	HITS-CLIP	23824327
MIRT643118	hsa-miR-3658	HITS-CLIP	23824327
MIRT905557	hsa-miR-1207-3p	CLIP-seq
MIRT905558	hsa-miR-1225-5p	CLIP-seq
MIRT905559	hsa-miR-1226	CLIP-seq
MIRT905560	hsa-miR-1271	CLIP-seq
MIRT905561	hsa-miR-128	CLIP-seq
MIRT905562	hsa-miR-182	CLIP-seq
MIRT905563	hsa-miR-3160-3p	CLIP-seq
MIRT905564	hsa-miR-365	CLIP-seq
MIRT905565	hsa-miR-4275	CLIP-seq
MIRT905566	hsa-miR-4487	CLIP-seq
MIRT905567	hsa-miR-4506	CLIP-seq
MIRT905568	hsa-miR-4528	CLIP-seq
MIRT905569	hsa-miR-4642	CLIP-seq
MIRT905570	hsa-miR-4659a-3p	CLIP-seq
MIRT905571	hsa-miR-4659b-3p	CLIP-seq
MIRT905572	hsa-miR-4672	CLIP-seq
MIRT905573	hsa-miR-4760-3p	CLIP-seq
MIRT905574	hsa-miR-4775	CLIP-seq
MIRT905575	hsa-miR-520f	CLIP-seq
MIRT905576	hsa-miR-556-3p	CLIP-seq
MIRT905577	hsa-miR-556-5p	CLIP-seq
MIRT905578	hsa-miR-558	CLIP-seq
MIRT905579	hsa-miR-664	CLIP-seq
MIRT905580	hsa-miR-96	CLIP-seq
MIRT905558	hsa-miR-1225-5p	CLIP-seq
MIRT905560	hsa-miR-1271	CLIP-seq
MIRT905561	hsa-miR-128	CLIP-seq
MIRT905562	hsa-miR-182	CLIP-seq
MIRT905564	hsa-miR-365	CLIP-seq
MIRT905567	hsa-miR-4506	CLIP-seq
MIRT905569	hsa-miR-4642	CLIP-seq
MIRT905570	hsa-miR-4659a-3p	CLIP-seq
MIRT905571	hsa-miR-4659b-3p	CLIP-seq
MIRT905572	hsa-miR-4672	CLIP-seq
MIRT905574	hsa-miR-4775	CLIP-seq
MIRT905575	hsa-miR-520f	CLIP-seq
MIRT905580	hsa-miR-96	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	TAS	8382530
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	NAS	30030519
GO:0007417	Process	Central nervous system development	IMP	23122588
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0045333	Process	Cellular respiration	NAS	30030519
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
300885	2291	ENSG00000131174

Protein

UniProt ID

P24311

Protein name

Cytochrome c oxidase subunit 7B, mitochondrial (Cytochrome c oxidase polypeptide VIIb)

Protein function

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu

PDB

5Z62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05392	COX7B	1 → 79	Cytochrome C oxidase chain VIIB	Family

Sequence

MFPLVKSALNRLQVRSIQQTMARQSHQKRTPDFHDKYGNAVLASGATFCIVTWTYVATQV
GIEWNLSPVGRVTPKEWRNQ

Sequence length

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction Thermogenesis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		TP53 Regulates Metabolic Genes Respiratory electron transport

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Linear Skin Defects With Multiple Congenital Anomalies	linear skin defects with multiple congenital anomalies 2	rs397514583, rs397514584, rs397514585	N/A

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acute Coronary Syndrome	Associate	23535507
Altitude Sickness	Associate	32299499
Alzheimer Disease	Associate	26125932
Arthritis Psoriatic	Associate	35371093
Azoospermia	Associate	36945018
Esophageal Neoplasms	Stimulate	37273454
Esophageal Squamous Cell Carcinoma	Associate	36072903
Heart Diseases	Associate	23535507
Hyperlipoproteinemia Type II	Associate	26592840
Neoplasms	Associate	30367559, 37273454
Urinary Bladder Neoplasms	Associate	30367559
Vitiligo	Associate	33463119

COX7B (cytochrome c oxidase subunit 7B)