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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7385
Gene name	Ubiquinol-cytochrome c reductase core protein 2
Gene symbol	UQCRC2
Synonyms (NCBI Gene)	MC3DN5QCR2UQCR2
Chromosome	16
Chromosome location	16p12.2
Summary	The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene ar

Show/Hide all (75)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026478	hsa-miR-192-5p	Microarray	19074876
MIRT029392	hsa-miR-26b-5p	Microarray	19088304
MIRT048245	hsa-miR-196a-5p	CLASH	23622248
MIRT046254	hsa-miR-23b-3p	CLASH	23622248
MIRT1476687	hsa-miR-1303	CLIP-seq
MIRT1476688	hsa-miR-3148	CLIP-seq
MIRT1476689	hsa-miR-4256	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476695	hsa-miR-656	CLIP-seq
MIRT1476696	hsa-miR-875-3p	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1555349	hsa-miR-4307	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT2143624	hsa-miR-1285	CLIP-seq
MIRT2143625	hsa-miR-1587	CLIP-seq
MIRT2143626	hsa-miR-1976	CLIP-seq
MIRT2143627	hsa-miR-3187-5p	CLIP-seq
MIRT2143628	hsa-miR-3194-3p	CLIP-seq
MIRT2143629	hsa-miR-326	CLIP-seq
MIRT2143630	hsa-miR-330-5p	CLIP-seq
MIRT2143631	hsa-miR-378g	CLIP-seq
MIRT2143632	hsa-miR-3925-5p	CLIP-seq
MIRT2143633	hsa-miR-4486	CLIP-seq
MIRT2143634	hsa-miR-4492	CLIP-seq
MIRT2143635	hsa-miR-4498	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT2143636	hsa-miR-4656	CLIP-seq
MIRT2143637	hsa-miR-4675	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT2143638	hsa-miR-4741	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT2143639	hsa-miR-486-5p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT2143640	hsa-miR-612	CLIP-seq
MIRT2143641	hsa-miR-762	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1476687	hsa-miR-1303	CLIP-seq
MIRT2363832	hsa-miR-345	CLIP-seq
MIRT2363833	hsa-miR-3607-5p	CLIP-seq
MIRT1476689	hsa-miR-4256	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476695	hsa-miR-656	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1476687	hsa-miR-1303	CLIP-seq
MIRT1476688	hsa-miR-3148	CLIP-seq
MIRT1555349	hsa-miR-4307	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476695	hsa-miR-656	CLIP-seq
MIRT1476696	hsa-miR-875-3p	CLIP-seq
MIRT1555348	hsa-miR-1207-3p	CLIP-seq
MIRT1476688	hsa-miR-3148	CLIP-seq
MIRT1555349	hsa-miR-4307	CLIP-seq
MIRT1476690	hsa-miR-4633-5p	CLIP-seq
MIRT1555350	hsa-miR-4646-5p	CLIP-seq
MIRT1476691	hsa-miR-4729	CLIP-seq
MIRT1476692	hsa-miR-4777-3p	CLIP-seq
MIRT1476693	hsa-miR-491-3p	CLIP-seq
MIRT1476694	hsa-miR-532-5p	CLIP-seq
MIRT1476696	hsa-miR-875-3p	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	21078624, 31536960, 32814053, 35101990
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	8288258
GO:0006119	Process	Oxidative phosphorylation	TAS	8288258
GO:0006122	Process	Mitochondrial electron transport, ubiquinol to cytochrome c	NAS	28844695
GO:0006508	Process	Proteolysis	IEA
GO:0009060	Process	Aerobic respiration	TAS	8288258
GO:0016020	Component	Membrane	IEA
GO:0045275	Component	Respiratory chain complex III	IDA	23168492, 31536960
GO:0045275	Component	Respiratory chain complex III	IEA
GO:0045333	Process	Cellular respiration	NAS	28844695
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
191329	12586	ENSG00000140740

P22695

Protein name

Cytochrome b-c1 complex subunit 2, mitochondrial (Complex III subunit 2) (Core protein II) (Ubiquinol-cytochrome-c reductase complex core protein 2)

Protein function

Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complex

PDB

5XTE , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00675	Peptidase_M16	48 → 194	Insulinase (Peptidase family M16)	Family
PF05193	Peptidase_M16_C	199 → 378	Peptidase M16 inactive domain	Domain

Sequence

MKLLTRAGSFSRFYSLKVAPKVKATAAPAGAPPQPQDLEFTKLPNGLVIASLENYSPVSR
IGLFIKAGSRYEDFSNLGTTHLLRLTSSLTTKGASSFKITRGIEAVGGKLSVTATRENMA
YTVECLRGDVDILMEFLLNVTTAPEFRRWEVADLQPQLKIDKAVAFQNPQTHVIENLHAA
AYRNALANPLYCPDYRIGKVTSEELHYFVQNHFTSARMALIGLGVSHPVLKQVAEQFLNM
RGGLGLSGAKANYRGGEIREQNGDSLVHAAFVAESAVAGSAEANAFSVLQHVLGAGPHVK
RGSNTTSHLHQAVAKATQQPFDVSAFNASYSDSGLFGIYTISQATAAGDVIKAAYNQVKT
IAQGNLSNTDVQAAKNKLKAGYLMSVESSECFLEEVGSQALVAGSYMPPSTVLQQIDSVA
NADIINAAKKFVSGQKSMAASGNLGHTPFVDEL

Sequence length

453

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		Respiratory electron transport

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex III deficiency nuclear type 5	Likely pathogenic; Pathogenic	rs2507410551, rs374661051, rs1898386320	RCV003236524 RCV000034810 RCV001290344	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UQCRC2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acidosis Lactic	Lactic acidosis	Pubtator	37709555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	30115536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35432724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37709555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchial Hyperreactivity	Bronchial Hyperreactivity	BEFREE	19786549		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30115536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	26329309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37709555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatal Familial Insomnia	Fatal Insomnia	BEFREE	27338255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30078018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperammonemia	Hyperammonemia	Pubtator	37709555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28275242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	37709555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insomnia Fatal Familial	Insomnia	Pubtator	27338255	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex III deficiency	Isolated Complex III Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	28275242		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	30924599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30674441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	30924599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37709555	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	33865955, 37709555	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	BEFREE	28275242		★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	Mitochondrial Complex Deficiency	UNIPROT_DG	23281071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	23281071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	30924599, 37709555	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	33865955	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30674441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	CTD_human_DG	20882379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	26329309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36593912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	31006710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32757436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	30924599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)