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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs7282	RCV005896361
Cholangiocarcinoma	Benign	rs7282	RCV005896365
Familial cancer of breast	Benign	rs7282	RCV005896360
Malignant lymphoma, large B-cell, diffuse	Benign	rs7282	RCV005896363
UQCRC2-related disorder	Uncertain significance; Benign; Likely benign	rs765554922, rs2228473, rs147128094, rs146640786, rs9924667, rs146974535, rs139040421	RCV003408620 RCV003922756 RCV003970158 RCV003942418 RCV003932595 RCV003926022 RCV003955943
Uterine carcinosarcoma	Benign	rs7282	RCV005896364
Uveal melanoma	Benign	rs7282	RCV005896362

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acidosis Lactic	Associate	37709555
Alzheimer Disease	Associate	35432724
Brain Diseases	Associate	37709555
Crisponi syndrome	Associate	26329309
Developmental Disabilities	Associate	37709555
Hyperammonemia	Associate	37709555
Hypoglycemia	Associate	37709555
Insomnia Fatal Familial	Inhibit	27338255
Metabolic Diseases	Associate	37709555
Mitochondrial Complex III Deficiency	Associate	33865955, 37709555
Mitochondrial Diseases	Associate	30924599, 37709555
Mitochondrial Encephalomyopathies	Associate	33865955
Neoplasms	Inhibit	31108950
Organizing Pneumonia	Associate	37709555
Osteoporosis	Associate	26329309
Parkinson Disease	Associate	36593912
Stomach Neoplasms	Associate	32757436
Testicular Neoplasms	Associate	30924599

UQCRC2 (ubiquinol-cytochrome c reductase core protein 2)