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

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84300
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquinol-cytochrome c reductase complex assembly factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UQCC2
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf125, C6orf126, Cbp6, M19, MC3DN7, MNF1, bA6B20.2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MC3DN7
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0002082 Process Regulation of oxidative phosphorylation IMP 22363741
GO:0005515 Function Protein binding IPI 24385928, 32296183
GO:0005739 Component Mitochondrion IDA 22363741
GO:0005743 Component Mitochondrial inner membrane ISS
GO:0005758 Component Mitochondrial intermembrane space ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614461 21237 ENSG00000137288
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Family and domains
Tissue specificity TISSUE SPECIFICITY: Pancreas, skeletal muscle, kidney, liver and heart. {ECO:0000269|PubMed:22363741}.
Sequence 
MAASRYRRFLKLCEEWPVDETKRGRDLGAYLRQRVAQAFREGENTQVAEPEACDQMYESL
ARLHSNYYKHKYPRPRDTSFSGLSLEEYKLILSTDTLEELKEIDKGMWKKLQEKFAPKGP
EEDHKA
Sequence length 126
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mitochondrial complex deficiency MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863
View all (210 more)		 24385928
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Complex Deficiency mitochondrial complex III deficiency, mitochondrial complex III deficiency nuclear type 7 GenCC
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Acidosis Lactic Associate 24385928
Attention Deficit Disorder with Hyperactivity Associate 35052433
Fanconi Syndrome Associate 24385928
Fetal Growth Retardation Associate 24385928
Immunologic Deficiency Syndromes Associate 24385928
Mitochondrial Complex III Deficiency Associate 24385928