UQCR11

protein-coding

ubiquinol-cytochrome c reductase, complex III subunit XI, the group of Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits

Gene summary

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]

Previous symbols:

UQCR

MANE transcript

NM_006830.4

Inheritance

—

ClinVar variants

U:9B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.55

Max pathogenic AF

—

Genomic locus

chr19:1,597,169-1,605,473

External References & Databases

Ensembl (ENSG00000127540)

Transcript & Mutation Effects

hg38 • Region Span ~8.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UQCR11 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006830.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			9 clinvar	2 clinvar		11
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	9	2	0	11

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006830.4	RefSeq	NP_006821.1	2	MANE Select
ENST00000591899.8	Ensembl	ENSP00000467262.1	2	MANE Select
ENST00000585671.2	Ensembl	ENSP00000466420.1	2	Standard
ENST00000585671.3	Ensembl	ENSP00000466420.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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)

Biological Process

generation of precursor metabolites and energy
electron transport chain

Molecular Function

ubiquinol-cytochrome-c reductase activity
electron transfer activity

Cellular Component

mitochondrial inner membrane
integral component of membrane
respirasome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000591899
Coding exons: 2
Length: 8310
Individuals with no LoFs: 125677
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125691
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.409	40	33.4	1.20	0.00000212	340
Missense (PolyPhen)		10	9.5657	1.0454		125
Synonymous	-0.350	18	16.2	1.11	0.00000111	119
Loss of Function	-0.916	5	3.22	1.55	1.39e-7	32

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000064	0.000062	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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.;

Recessive Scores

pRec: 0.145

Intolerance Scores

LoFtool: 0.495
RVIS EVS: -0.01
RVIS percentile EVS: 52.85

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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