COX7B (cytochrome c oxidase subunit 7B)

Gene

• Entrez ID: 1349
• Gene name: Cytochrome c oxidase subunit 7B
• Gene symbol: COX7B
• Synonyms (NCBI Gene): APLCC, LSDMCA2
• Chromosome: X
• Chromosome location: Xq21.1
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 300885
• HGNC: 2291
• e!Ensembl: 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: 80

Pathways

KEGG:

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

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Linear skin defects with multiple congenital anomalies 2	Pathogenic	rs397514583, rs397514584, rs397514585	RCV000032986 RCV000032987 RCV000032988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs397514584	RCV005888875	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COX7B-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	26125932	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	35371093	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	36945018	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30367559		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of rectum	Congenital Anomaly Of Rectum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37273454	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36072903	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	23535507	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	26592840		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	26592840	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	26592840		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2	Linear Skin Defects With Multiple Congenital Anomalies	GENOMICS_ENGLAND_DG	23122588, 27604308, 9747372		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2	Linear Skin Defects With Multiple Congenital Anomalies	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2	Linear Skin Defects With Multiple Congenital Anomalies	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30367559		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30367559		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23122588		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia with linear skin defects syndrome	Microphthalmia With Linear Skin Defects Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	23122588, 25772934		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	ORPHANET_DG	23122588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	23122588		★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21057896		★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovotestis	Ovotestis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	23122588		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30367559	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	33463119	Associate	★☆☆☆☆ Found in Text Mining only
Vitritis	Vitritis	HPO_DG			★☆☆☆☆ Found in Text Mining only