UQCRB

ubiquinol-cytochrome c reductase binding protein, the group of Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits

Basic information

Region (hg38): 8:96222947-96235546

Previous symbols: [ "UQBP" ]

Links

ENSG00000156467 ∙ NCBI:7381 ∙ OMIM:191330 ∙ HGNC:12582 ∙ Uniprot:P14927 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• mitochondrial complex III deficiency (Supportive), mode of inheritance: AR
• mitochondrial complex III deficiency nuclear type 3 (Limited), mode of inheritance: AR
• mitochondrial complex III deficiency nuclear type 3 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Mitochondrial complex III deficiency, nuclear type 3	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Gastrointestinal	12709789
Individuals may suffer acute episodes of metabolic crisis; Treatment with "Mitochondrial cocktail" type therapy may be beneficial

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UQCRB gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCRB gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	1	4
missense		1	13			14
nonsense		1	1			2
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	3		4
non coding				19	8	27
Total	1	2	14	22	9

Variants in UQCRB

This is a list of pathogenic ClinVar variants found in the UQCRB region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-96230890-G-GATTCAGTAGTT			Likely benign (Jul 07, 2018)
8-96231067-C-A			Conflicting classifications of pathogenicity (Jan 26, 2023)
8-96231081-C-A			Likely pathogenic (Oct 23, 2020)
8-96231081-CTTTT-C		Mitochondrial complex III deficiency nuclear type 3	Conflicting classifications of pathogenicity (Aug 23, 2022)
8-96231112-C-T			Benign/Likely benign (Nov 22, 2023)
8-96231113-G-A			Uncertain significance (Mar 11, 2022)
8-96231116-TC-T			Pathogenic (Jul 29, 2013)
8-96231197-G-A			Likely benign (Aug 10, 2018)
8-96231296-G-GT			Benign (Jun 09, 2019)
8-96231372-C-T			Likely benign (Jul 08, 2018)
8-96231406-G-A			Likely benign (Jun 16, 2018)
8-96231492-G-A		Mitochondrial complex III deficiency nuclear type 3	Benign (Dec 05, 2021)
8-96231506-C-T		Mitochondrial complex III deficiency nuclear type 3 • UQCRB-related disorder	Likely benign (Apr 05, 2019)
8-96231561-G-C			Likely benign (Jun 14, 2018)
8-96231599-G-A			Likely benign (Jun 28, 2018)
8-96231767-G-A		not specified	Likely benign (Jan 04, 2018)
8-96231781-T-A			Uncertain significance (Dec 08, 2021)
8-96231781-T-C		not specified	Uncertain significance (Jan 26, 2023)
8-96231783-T-G			Uncertain significance (May 13, 2021)
8-96231790-C-T			Uncertain significance (Oct 17, 2023)
8-96231832-A-T		UQCRB-related disorder	Conflicting classifications of pathogenicity (Jan 02, 2024)
8-96231837-C-T		not specified	Benign (Jan 25, 2024)
8-96231854-T-A		not specified	Uncertain significance (Oct 11, 2022)
8-96231861-A-G			Likely benign (Dec 22, 2021)
8-96231873-C-T			Likely benign (Aug 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCRB	protein_coding	protein_coding	ENST00000518406	5	9715

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0164	0.895	125718	0	10	125728	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.185	69	73.5	0.939	0.00000366	916
Missense in Polyphen		7	12.968	0.53978		189
Synonymous	0.154	23	24.0	0.960	0.00000114	239
Loss of Function	1.43	4	8.50	0.471	5.11e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This component is involved in redox-linked proton pumping.
• Disease: DISEASE: Mitochondrial complex III deficiency, nuclear 3 (MC3DN3) [MIM:615158]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269|PubMed:12709789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Cardiac muscle contraction - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Electron Transport Chain;Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (Consensus)

Recessive Scores

• pRec: 0.183

Intolerance Scores

• loftool: 0.512
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.11

Haploinsufficiency Scores

• pHI: 0.153
• hipred: Y
• hipred_score: 0.603
• ghis: 0.475

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.985

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Uqcrb
• Phenotype: vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: uqcrb
• Affected structure: angiogenic sprout
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: oxidative phosphorylation;mitochondrial electron transport, ubiquinol to cytochrome c;aerobic respiration;mitochondrial respiratory chain complex III assembly;oxidation-reduction process
• Cellular component: mitochondrial inner membrane;mitochondrial respirasome;mitochondrial respiratory chain complex III
• Molecular function: protein binding;ubiquinol-cytochrome-c reductase activity