UQCC2 (ubiquinol-cytochrome c reductase complex assembly factor 2)

Gene

• Entrez ID: 84300
• Gene name: Ubiquinol-cytochrome c reductase complex assembly factor 2
• Gene symbol: UQCC2
• Synonyms (NCBI Gene): C6orf125, C6orf126, Cbp6, M19, MC3DN7, MNF1, bA6B20.2
• Chromosome: 6
• Chromosome location: 6p21.31
• Summary: This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777410	G>A,C,T	Pathogenic	Intron variant
rs1373387327	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1582186030	G>A	Pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002082	Process	Regulation of oxidative phosphorylation	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	IMP	22363741
GO:0005515	Function	Protein binding	IPI	24385928, 32296183, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	22363741
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	ISS
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IBA
GO:0034551	Process	Mitochondrial respiratory chain complex III assembly	IDA	24385928
GO:0042645	Component	Mitochondrial nucleoid	IDA	19643811
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	ISS
GO:0070131	Process	Positive regulation of mitochondrial translation	IDA	24385928
GO:2001014	Process	Regulation of skeletal muscle cell differentiation	IEA
GO:2001014	Process	Regulation of skeletal muscle cell differentiation	ISS

Other IDs

• MIM: 614461
• HGNC: 21237
• e!Ensembl: ENSG00000137288

Protein

• UniProt ID: Q9BRT2
• Protein name: Ubiquinol-cytochrome c reductase complex assembly factor 2 (Breast cancer-associated protein SGA-81M) (Mitochondrial nucleoid factor 1) (Mitochondrial protein M19)
• Protein 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
• Tissue specificity: TISSUE SPECIFICITY: Pancreas, skeletal muscle, kidney, liver and heart. {ECO:0000269|PubMed:22363741}.
• Sequence:

  MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESL
  ARLHSNYYKHKYPRPRDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGP
  EEDHKA

• Sequence length: 126

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial complex III deficiency nuclear type 7	Pathogenic	rs587777410, rs368187806	RCV000119808 RCV003223366	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ 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 7	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UQCC2-related disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acidosis Lactic	Lactic acidosis	Pubtator	24385928	Associate	★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28318056		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	35052433	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28318056		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	24385928	Associate	★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	28318056		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28318056		★☆☆☆☆ Found in Text Mining only
Isolated complex III deficiency	Isolated Complex III Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28318056		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	24385928	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)	Mitochondrial Complex Deficiency	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	24385928		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7	Mitochondrial Complex Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	24385928		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only