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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 Mitochondrial 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.

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

Regulatory Elements for UQCC2 Gene

Enhancers for UQCC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G033743 2 FANTOM5 Ensembl ENCODE dbSUPER 22.1 -34.0 -34048 5.2 HDGF FOXA2 CREB3L1 MLX ARNT AGO1 ZFP64 ARID4B SIN3A YBX1 LEMD2 IP6K3 UQCC2 WDR46 BRD2 VPS52 DAXX RXRB RPL35P2 RGL2
GH06G033710 1.4 ENCODE dbSUPER 23.3 +0.3 340 2.0 HDGF CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 IP6K3 UQCC2 LINC00336 LEMD2 RPS18 MIR3934
GH06G033691 1.4 Ensembl ENCODE dbSUPER 22.8 +16.8 16800 7.2 PKNOX1 AGO1 KLF17 FEZF1 GLIS2 GATA2 SCRT2 FOS CREM ZNF263 UQCC2 IP6K3 BAK1 LEMD2 HLA-DPA1 RPS18 ITPR3 MIR3934 LOC105375023
GH06G033730 1.2 ENCODE dbSUPER 21.6 -20.2 -20214 3.7 HDGF PKNOX1 NFIB RB1 ZNF2 RAD21 ZNF143 RCOR1 KLF13 ZNF263 UQCC2 IP6K3 LEMD2 RPS18 HLA-DMA SLC39A7 HLA-DPA1
GH06G033739 1.2 ENCODE dbSUPER 20.9 -28.6 -28571 1.7 ELF3 PKNOX1 ZNF48 RAD21 RARA YY1 ZNF766 THAP11 CEBPB ELF1 UQCC2 IP6K3 BAK1 RPS18 HLA-DPB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UQCC2 on UCSC Golden Path with GeneCards custom track

Promoters for UQCC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000195841 51 1001 HDGF MLX CREB3L1 ARNT AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1

Genomic Location for UQCC2 Gene

Chromosome:
6
Start:
33,694,293 bp from pter
End:
33,711,751 bp from pter
Size:
17,459 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

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.

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

Inhibitory RNA Products

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

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 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

Inhibitory RNA Products

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
Organs:
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

Primer Products

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 34
  • 99.74 (n)
UQCC2 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MNF1 34
  • 92.59 (n)
UQCC2 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcc2 34 16 35
  • 90.48 (n)
rat
(Rattus norvegicus)
Mammalia Uqcc2 34
  • 89.95 (n)
cow
(Bos Taurus)
Mammalia MNF1 34
  • 89.15 (n)
oppossum
(Monodelphis domestica)
Mammalia UQCC2 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UQCC2 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C26H6ORF125 34 35
  • 72.8 (n)
lizard
(Anolis carolinensis)
Reptilia UQCC2 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcc2 34
  • 68.29 (n)
Str.13587 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6461 34
zebrafish
(Danio rerio)
Actinopterygii zgc:73238 34
  • 62.81 (n)
UQCC2 35
  • 60 (a)
OneToOne
Dr.17865 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4405 34
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 Sequence Context AA Info Type
rs587777410 Pathogenic 33,700,516(+) GTACT(A/C/G)GTCAC intron-variant
rs1000006383 -- 33,698,765(+) CAACT(A/G)AAAAT intron-variant
rs1000069937 -- 33,700,234(+) GCCCT(-/AAAG)ATAGA intron-variant
rs1000432649 -- 33,702,043(+) ACTCT(A/G)TTGCC intron-variant
rs1000603989 -- 33,711,174(+) CATTT(C/G)AAGTT intron-variant

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)

Relevant External Links 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: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 7
  • mitochondrial complex iii deficiency nuclear type 7
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial respiratory chain complex iii deficiency, uqcc2-related
  • mitochondrial complex iii deficiency, nuclear type 7
peliosis hepatis
  • hepatic peliosis
- 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.

Relevant External Links for UQCC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biochem. 2009) 2 3 4 64
  2. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. (PMID: 24385928) Tucker E.J. … Thorburn D.R. (PLoS Genet. 2013) 3 4 64
  3. M19 modulates skeletal muscle differentiation and insulin secretion in pancreatic I^-cells through modulation of respiratory chain activity. (PMID: 22363741) Cambier L. … PomiA"s P. (PLoS ONE 2012) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64

Products for UQCC2 Gene

Sources for UQCC2 Gene

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