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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
  • Breast Cancer-Associated Protein SGA-81M 3 4
  • Mitochondrial Protein M19 3 4
  • C6orf125 3 4
  • MNF1 3 4
  • Ubiquinol-Cytochrome-C Reductase Complex Assembly Factor 2 3
  • 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
  • Cbp6 3
  • M19 3

External Ids for UQCC2 Gene

Previous HGNC Symbols for UQCC2 Gene

  • C6orf125
  • MNF1

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 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 , fRNAdb sequence ontologies and piRNA Summary for UQCC2 Gene

Genomics for UQCC2 Gene

GeneHancer (GH) Regulatory Elements for UQCC2 Gene

Promoters and enhancers for UQCC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I033710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 573.3 +0.3 340 2 HDGF SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 UQCC2 LEMD2 IP6K3 DAXX BRD2 RGL2 WDR46 RXRB LINC00336 VPS52
GH06I033743 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.1 -34.0 -34048 5.2 HDGF CLOCK ARNT ZFP64 ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 IP6K3 LEMD2 BRD2 DAXX WDR46 RPS18 VPS52 RPS10 RXRB UQCC2
GH06I033691 Enhancer 1.2 Ensembl ENCODE dbSUPER 22.8 +16.8 16799 7.2 PKNOX1 KLF17 MZF1 FEZF1 GLIS2 SCRT2 RUNX3 NR2F2 ZFP69B MAFF UQCC2 IP6K3 BAK1 LEMD2 HLA-DPA1 RPS18 ITPR3 MIR3934 LOC105375023
GH06I033739 Enhancer 1.1 ENCODE dbSUPER 20.9 -28.6 -28570 1.7 ELF3 FOXA2 PKNOX1 ZNF48 RAD21 RARA YY1 ZNF766 ATF7 THAP11 UQCC2 IP6K3 BAK1 RPS18 HLA-DPB1
GH06I033750 Enhancer 1.2 Ensembl ENCODE dbSUPER 19.1 -39.7 -39731 2.7 PKNOX1 FOXA2 ZSCAN4 ZNF133 RARA ZNF335 TCF12 RXRA CEBPB NR2F2 UQCC2 BAK1 LEMD2 IP6K3 HLA-DPA1 ITPR3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UQCC2 on UCSC Golden Path with GeneCards custom track

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)

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

No Post-translational modifications

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

ProtoNet:

Suggested Antigen Peptide Sequences for UQCC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

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

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 IDA 24385928
GO:0050796 regulation of insulin secretion ISS,IEA --
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

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
ECgene alternative splicing isoforms for
UQCC2

Expression for UQCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for UQCC2 Gene



Protein tissue co-expression partners for UQCC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UQCC2 Gene:

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 33
  • 99.74 (n)
UQCC2 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MNF1 33
  • 92.59 (n)
UQCC2 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcc2 33 16 34
  • 90.48 (n)
rat
(Rattus norvegicus)
Mammalia Uqcc2 33
  • 89.95 (n)
cow
(Bos Taurus)
Mammalia MNF1 33
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia UQCC2 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UQCC2 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C26H6ORF125 33 34
  • 72.8 (n)
lizard
(Anolis carolinensis)
Reptilia UQCC2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcc2 33
  • 68.29 (n)
Str.13587 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6461 33
zebrafish
(Danio rerio)
Actinopterygii zgc:73238 33
  • 62.81 (n)
UQCC2 34
  • 60 (a)
OneToOne
Dr.17865 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4405 33
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)

Paralogs for UQCC2 Gene

No data available for Paralogs for UQCC2 Gene

Variants for UQCC2 Gene

Sequence variations from dbSNP and Humsavar for UQCC2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs587777410 pathogenic, Mitochondrial complex III deficiency, nuclear type 7 33,700,516(-) G/A/C/T intron_variant
rs1057522744 likely-benign, not specified 33,697,662(-) A/G coding_sequence_variant, synonymous_variant
rs34770331 likely-benign, not specified 33,697,713(-) C/T coding_sequence_variant, missense_variant
rs376699291 likely-benign, not specified 33,711,702(-) T/C 5_prime_UTR_variant
rs10025 benign, not specified 33,711,564(-) C/T coding_sequence_variant, synonymous_variant

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

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

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

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

Disorders for UQCC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UQCC2 Gene - From: HGMD, 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
peliosis hepatis
  • hepatic peliosis
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
- 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 58
  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 58
  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 58
  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 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for UQCC2 Gene

Sources for UQCC2 Gene

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