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. [provided by RefSeq, Oct 2012] See more...

Aliases for UQCC2 Gene

Aliases for UQCC2 Gene

  • Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2 2 3 5
  • Mitochondrial Nucleoid Factor 1 2 3 4
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 2 3 4
  • Breast Cancer-Associated Protein SGA-81M 3 4
  • Mitochondrial Protein M19 3 4
  • C6orf125 3 4
  • MNF1 3 4
  • Cytochrome B Protein Synthesis 6 Homolog (S. Cerevisiae) 2
  • Cytochrome B Protein Synthesis 6 Homolog 3
  • Chromosome 6 Open Reading Frame 125 2
  • C6orf126 3
  • BA6B20.2 3
  • MC3DN7 3
  • Cbp6 3
  • M19 3

External Ids for UQCC2 Gene

Previous HGNC Symbols for UQCC2 Gene

  • C6orf125
  • MNF1

Previous GeneCards Identifiers for UQCC2 Gene

  • GC06M033669

Summaries for UQCC2 Gene

Entrez Gene Summary for UQCC2 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. [provided by RefSeq, Oct 2012]

GeneCards Summary for UQCC2 Gene

UQCC2 (Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with UQCC2 include Mitochondrial Complex Iii Deficiency, Nuclear Type 7 and Isolated Complex Iii Deficiency.

UniProtKB/Swiss-Prot Summary for UQCC2 Gene

  • 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.

Additional gene information for UQCC2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UQCC2 Gene

Genomics for UQCC2 Gene

GeneHancer (GH) Regulatory Elements for UQCC2 Gene

Promoters and enhancers for UQCC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UQCC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UQCC2

Genomic Locations for UQCC2 Gene

Genomic Locations for UQCC2 Gene
chr6:33,694,293-33,711,751
(GRCh38/hg38)
Size:
17,459 bases
Orientation:
Minus strand
chr6:33,662,070-33,679,504
(GRCh37/hg19)
Size:
17,435 bases
Orientation:
Minus strand

Genomic View for UQCC2 Gene

Genes around UQCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCC2 Gene

Proteins for UQCC2 Gene

  • Protein details for UQCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRT2-UQCC2_HUMAN
    Recommended name:
    Ubiquinol-cytochrome-c reductase complex assembly factor 2
    Protein Accession:
    Q9BRT2
    Secondary Accessions:
    • B2R4I0

    Protein attributes for UQCC2 Gene

    Size:
    126 amino acids
    Molecular mass:
    14875 Da
    Quaternary structure:
    • Interacts with UQCC1.

neXtProt entry for UQCC2 Gene

Post-translational modifications for UQCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UQCC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for UQCC2 Gene

Domains & Families for UQCC2 Gene

Gene Families for UQCC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for UQCC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UQCC2 Gene

GenScript: Design optimal peptide antigens:
  • Breast cancer-associated protein SGA-81M (CF125_HUMAN)
genes like me logo Genes that share domains with UQCC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for UQCC2 Gene

Function for UQCC2 Gene

Molecular function for UQCC2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for UQCC2 Gene

Gene Ontology (GO) - Molecular Function for UQCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24385928
genes like me logo Genes that share ontologies with UQCC2: view
genes like me logo Genes that share phenotypes with UQCC2: view

Human Phenotype Ontology for UQCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for UQCC2 Gene

miRTarBase miRNAs that target UQCC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCC2 Gene

Localization for UQCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCC2 Gene

Mitochondrion matrix, mitochondrion nucleoid. Mitochondrion. Mitochondrion intermembrane space. Mitochondrion matrix. Mitochondrion inner membrane. Note=Predominantly expressed in the mitochondrial inner membrane. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UQCC2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UQCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 22363741
GO:0005743 mitochondrial inner membrane ISS --
GO:0005758 mitochondrial intermembrane space ISS --
GO:0005759 mitochondrial matrix ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with UQCC2: view

Pathways & Interactions for UQCC2 Gene

PathCards logo

SuperPathways for UQCC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UQCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002082 regulation of oxidative phosphorylation IMP 22363741
GO:0034551 mitochondrial respiratory chain complex III assembly IEA,IDA 24385928
GO:0050796 regulation of insulin secretion IEA,ISS --
GO:0070131 positive regulation of mitochondrial translation IDA 24385928
GO:1903364 positive regulation of cellular protein catabolic process IMP 24385928
genes like me logo Genes that share ontologies with UQCC2: view

No data available for Pathways by source and SIGNOR curated interactions for UQCC2 Gene

Drugs & Compounds for UQCC2 Gene

No Compound Related Data Available

Transcripts for UQCC2 Gene

mRNA/cDNA for UQCC2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UQCC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - - -
SP2:
SP3: - -
SP4:

Relevant External Links for UQCC2 Gene

GeneLoc Exon Structure for
UQCC2

Expression for UQCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UQCC2 Gene

Protein differential expression in normal tissues from HIPED for UQCC2 Gene

This gene is overexpressed in Bone (14.6), Fetal Brain (7.7), and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UQCC2 Gene



Protein tissue co-expression partners for UQCC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UQCC2

mRNA Expression by UniProt/SwissProt for UQCC2 Gene:

Q9BRT2-UQCC2_HUMAN
Tissue specificity: Pancreas, skeletal muscle, kidney, liver and heart.

Evidence on tissue expression from TISSUES for UQCC2 Gene

  • Nervous system(4.3)
  • Heart(2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with UQCC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for UQCC2 Gene

Orthologs for UQCC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UQCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MNF1 30
  • 99.74 (n)
UQCC2 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MNF1 30
  • 92.59 (n)
UQCC2 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcc2 17 31 30
  • 90.48 (n)
rat
(Rattus norvegicus)
Mammalia Uqcc2 30
  • 89.95 (n)
cow
(Bos Taurus)
Mammalia MNF1 30
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia UQCC2 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UQCC2 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C26H6ORF125 31 30
  • 72.8 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UQCC2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcc2 30
  • 68.29 (n)
Str.13587 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6461 30
zebrafish
(Danio rerio)
Actinopterygii zgc:73238 30
  • 62.81 (n)
UQCC2 31
  • 60 (a)
OneToOne
Dr.17865 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4405 30
Species where no ortholog for UQCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UQCC2 Gene

ENSEMBL:
Gene Tree for UQCC2 (if available)
TreeFam:
Gene Tree for UQCC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UQCC2: view image

Paralogs for UQCC2 Gene

No data available for Paralogs for UQCC2 Gene

Variants for UQCC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UQCC2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
669587 Benign: not provided 33,711,284(-) A/G INTRON_VARIANT
669588 Benign: not provided 33,700,188(-) G/T INTRON_VARIANT
671160 Benign: not provided 33,712,030(-) A/G
673279 Likely Benign: not provided 33,701,663(-) C/T INTRON_VARIANT
676443 Benign: not provided 33,711,462(-) C/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for UQCC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for UQCC2 Gene

Variant ID Type Subtype PubMed ID
dgv85n68 CNV loss 17160897
esv3608630 CNV gain 21293372

Variation tolerance for UQCC2 Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UQCC2 Gene

Human Gene Mutation Database (HGMD)
UQCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCC2 Gene

Disorders for UQCC2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for UQCC2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 7
  • mc3dn7
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial dna depletion syndrome 11
  • mtdps11
mitochondrial dna depletion syndrome 8a
  • mtdps8a
- elite association - COSMIC cancer census association via MalaCards
Search UQCC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UQCC2_HUMAN
  • Mitochondrial complex III deficiency, nuclear 7 (MC3DN7) [MIM:615824]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN7 is characterized by severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction. Additional clinical features include a dysmorphic facial appearance, delayed psychomotor development, autistic features, aggressive behavior, and mild sensorineural hearing loss. {ECO:0000269 PubMed:24385928}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UQCC2

genes like me logo Genes that share disorders with UQCC2: view

No data available for Genatlas for UQCC2 Gene

Publications for UQCC2 Gene

  1. Association of a novel mitochondrial protein M19 with mitochondrial nucleoids. (PMID: 19643811) Sumitani M … Endo H (Journal of biochemistry 2009) 2 3 4 54
  2. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. (PMID: 24385928) Tucker EJ … Thorburn DR (PLoS genetics 2013) 3 4 54
  3. M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic β-cells through modulation of respiratory chain activity. (PMID: 22363741) Cambier L … Pomiès P (PloS one 2012) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 54

Products for UQCC2 Gene

Sources for UQCC2 Gene