UQCC2

ubiquinol-cytochrome c reductase complex assembly factor 2, the group of Mitochondrial respiratory chain complex assembly factors

Basic information

Region (hg38): 6:33694293-33711727

Previous symbols: [ "C6orf125", "MNF1" ]

Links

ENSG00000137288 ∙ NCBI:84300 ∙ OMIM:614461 ∙ HGNC:21237 ∙ Uniprot:Q9BRT2 ∙ 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 7 (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 7	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; Neurologic; Renal	24385928

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UQCC2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UQCC2 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			2	5	2	9
missense			12	2	1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			3			3
non coding				13	8	21
Total	0	0	14	20	11

Variants in UQCC2

This is a list of pathogenic ClinVar variants found in the UQCC2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-33694890-C-T			Benign (May 12, 2021)
6-33694940-G-A			Uncertain significance (Aug 01, 2023)
6-33694954-C-G		not specified	Uncertain significance (Oct 14, 2023)
6-33694955-G-A		not specified	Uncertain significance (Oct 26, 2022)
6-33695278-G-A			Benign (May 12, 2021)
6-33695674-C-T			Benign (May 12, 2021)
6-33695725-G-A		not specified	Uncertain significance (Oct 27, 2023)
6-33695739-C-T			Uncertain significance (Dec 01, 2023)
6-33695775-C-T		not specified	Uncertain significance (Jul 31, 2023)
6-33695776-G-A		not specified	Uncertain significance (Jun 12, 2023)
6-33697541-G-A			Benign (Jun 28, 2018)
6-33697637-G-A		not specified	Benign (Oct 11, 2016)
6-33697662-A-G		not specified	Likely benign (Jul 25, 2016)
6-33697681-T-C		not specified	Benign (Jan 29, 2024)
6-33697713-C-T		Mitochondrial complex III deficiency nuclear type 7	Likely benign (Jan 17, 2024)
6-33697743-C-T			Benign (Dec 21, 2023)
6-33697767-CAA-C			Likely benign (Aug 10, 2023)
6-33697848-C-T			Likely benign (Jun 23, 2018)
6-33697857-CAG-C			Likely benign (Jun 29, 2018)
6-33697877-T-C			Likely benign (Mar 06, 2019)
6-33697932-G-A			Likely benign (Aug 25, 2018)
6-33700188-G-T			Benign (Jun 14, 2018)
6-33700261-G-A			Benign (Jun 14, 2018)
6-33700441-T-G			Uncertain significance (Nov 29, 2022)
6-33700466-C-G			Uncertain significance (Jan 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UQCC2	protein_coding	protein_coding	ENST00000607484	4	17435

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0187	0.905	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.499	59	70.8	0.833	0.00000349	811
Missense in Polyphen		9	14.192	0.63414		192
Synonymous	0.260	27	28.8	0.938	0.00000151	234
Loss of Function	1.50	4	8.81	0.454	4.58e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000531	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the assembly of the ubiquinol-cytochrome c reductase complex (mitochondrial respiratory chain complex III or cytochrome b-c1 complex). Plays a role in the modulation of respiratory chain activities such as oxygen consumption and ATP production and via its modulation of the respiratory chain activity can regulate skeletal muscle differentiation and insulin secretion by pancreatic beta-cells. Involved in cytochrome b translation and/or stability. {ECO:0000269|PubMed:22363741, ECO:0000269|PubMed:24385928}.

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.0103
• hipred: N
• hipred_score: 0.241
• ghis: 0.462

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: E

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uqcc2

Gene ontology

• Biological process: regulation of oxidative phosphorylation;mitochondrial respiratory chain complex III assembly;regulation of insulin secretion;positive regulation of mitochondrial translation;positive regulation of cellular protein catabolic process;regulation of skeletal muscle cell differentiation
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial intermembrane space;mitochondrial matrix;nuclear body;mitochondrial nucleoid
• Molecular function: protein binding