The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015] See more...

Aliases for UQCRC2 Gene

Aliases for UQCRC2 Gene

  • Ubiquinol-Cytochrome C Reductase Core Protein 2 2 3 5
  • Ubiquinol-Cytochrome-C Reductase Complex Core Protein 2 3 4
  • Ubiquinol-Cytochrome C Reductase Core Protein II 2 3
  • Cytochrome B-C1 Complex Subunit 2, Mitochondrial 3 4
  • Complex III Subunit 2 3 4
  • UQCR2 2 3
  • QCR2 2 3
  • Cytochrome Bc-1 Complex Core Protein II 3
  • Core Protein II 4
  • MC3DN5 3
  • UQCRC2 5

External Ids for UQCRC2 Gene

Previous GeneCards Identifiers for UQCRC2 Gene

  • GC16P021372
  • GC16P021972
  • GC16P021930
  • GC16P021931
  • GC16P021872
  • GC16P020209

Summaries for UQCRC2 Gene

Entrez Gene Summary for UQCRC2 Gene

  • The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

GeneCards Summary for UQCRC2 Gene

UQCRC2 (Ubiquinol-Cytochrome C Reductase Core Protein 2) is a Protein Coding gene. Diseases associated with UQCRC2 include Mitochondrial Complex V Deficiency, Nuclear Type 3 and Isolated Complex Iii Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is PMPCA.

UniProtKB/Swiss-Prot Summary for UQCRC2 Gene

  • Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c (By similarity). The 2 core subunits UQCRC1/QCR1 and UQCRC2/QCR2 are homologous to the 2 mitochondrial-processing peptidase (MPP) subunits beta-MPP and alpha-MPP respectively, and they seem to have preserved their MPP processing properties (By similarity). May be involved in the in situ processing of UQCRFS1 into the mature Rieske protein and its mitochondrial targeting sequence (MTS)/subunit 9 when incorporated into complex III (Probable).

Gene Wiki entry for UQCRC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UQCRC2 Gene

Genomics for UQCRC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UQCRC2 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 UQCRC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UQCRC2

Top Transcription factor binding sites by QIAGEN in the UQCRC2 gene promoter:
  • AML1a
  • AP-1
  • C/EBPalpha
  • CHOP-10
  • FOXL1
  • FOXO4
  • Hlf
  • NF-1
  • p53
  • Pax-4a

Genomic Locations for UQCRC2 Gene

Genomic Locations for UQCRC2 Gene
chr16:21,953,288-21,983,660
(GRCh38/hg38)
Size:
30,373 bases
Orientation:
Plus strand
chr16:21,963,981-21,994,981
(GRCh37/hg19)
Size:
31,001 bases
Orientation:
Plus strand

Genomic View for UQCRC2 Gene

Genes around UQCRC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCRC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCRC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCRC2 Gene

Proteins for UQCRC2 Gene

  • Protein details for UQCRC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22695-QCR2_HUMAN
    Recommended name:
    Cytochrome b-c1 complex subunit 2, mitochondrial
    Protein Accession:
    P22695
    Secondary Accessions:
    • B3KSN4
    • Q9BQ05

    Protein attributes for UQCRC2 Gene

    Size:
    453 amino acids
    Molecular mass:
    48443 Da
    Quaternary structure:
    • Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1 (By similarity). The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). Interacts with RAB5IF (PubMed:31536960).

    Three dimensional structures from OCA and Proteopedia for UQCRC2 Gene

neXtProt entry for UQCRC2 Gene

Post-translational modifications for UQCRC2 Gene

  • Ubiquitination at Lys162, Lys199, Lys250, and Lys359
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for UQCRC2
  • Boster Bio Antibodies for UQCRC2

No data available for DME Specific Peptides for UQCRC2 Gene

Domains & Families for UQCRC2 Gene

Gene Families for UQCRC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UQCRC2 Gene

InterPro:
Blocks:
  • Insulinase-like peptidase, family M16
ProtoNet:

Suggested Antigen Peptide Sequences for UQCRC2 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquinol-cytochrome-c reductase complex core protein 2 (QCR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22695

UniProtKB/Swiss-Prot:

QCR2_HUMAN :
  • Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.
Family:
  • Belongs to the peptidase M16 family. UQCRC2/QCR2 subfamily.
genes like me logo Genes that share domains with UQCRC2: view

Function for UQCRC2 Gene

Molecular function for UQCRC2 Gene

UniProtKB/Swiss-Prot Function:
Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c (By similarity). The 2 core subunits UQCRC1/QCR1 and UQCRC2/QCR2 are homologous to the 2 mitochondrial-processing peptidase (MPP) subunits beta-MPP and alpha-MPP respectively, and they seem to have preserved their MPP processing properties (By similarity). May be involved in the in situ processing of UQCRFS1 into the mature Rieske protein and its mitochondrial targeting sequence (MTS)/subunit 9 when incorporated into complex III (Probable).
GENATLAS Biochemistry:
ubiquinol cytochrome c reductase,core protein 2,component of complex III of mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)

Phenotypes From GWAS Catalog for UQCRC2 Gene

Gene Ontology (GO) - Molecular Function for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004175 contributes_to endopeptidase activity IBA 21873635
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding IPI 21078624
GO:0044877 protein-containing complex binding IEA --
genes like me logo Genes that share ontologies with UQCRC2: view
genes like me logo Genes that share phenotypes with UQCRC2: view

Human Phenotype Ontology for UQCRC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for UQCRC2

CRISPR Products

miRNA for UQCRC2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRC2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCRC2 Gene

Localization for UQCRC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCRC2 Gene

Mitochondrion inner membrane. Peripheral membrane protein. Matrix side.

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 UQCRC2 gene
Compartment Confidence
mitochondrion 5
nucleus 4
extracellular 2
cytoskeleton 2
cytosol 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IEA,IDA 23168492
GO:0005751 mitochondrial respiratory chain complex IV IDA 23168492
genes like me logo Genes that share ontologies with UQCRC2: view

Pathways & Interactions for UQCRC2 Gene

genes like me logo Genes that share pathways with UQCRC2: view

Gene Ontology (GO) - Biological Process for UQCRC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation TAS 8288258
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0006508 proteolysis IEA --
GO:0006627 protein processing involved in protein targeting to mitochondrion IBA 21873635
GO:0009060 aerobic respiration TAS 8288258
genes like me logo Genes that share ontologies with UQCRC2: view

No data available for SIGNOR curated interactions for UQCRC2 Gene

Drugs & Compounds for UQCRC2 Gene

(9) Drugs for UQCRC2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-2 Experimental Pharma Target 0
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
(S)-famoxadone Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-Nonyl-4-quinolinol 1-oxide Experimental Pharma Target 0

(1) Additional Compounds for UQCRC2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
genes like me logo Genes that share compounds with UQCRC2: view

Transcripts for UQCRC2 Gene

mRNA/cDNA for UQCRC2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRC2

Alternative Splicing Database (ASD) splice patterns (SP) for UQCRC2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b ^ 15 ^ 16
SP1: - - - - - - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7: - - - - - - - -

Relevant External Links for UQCRC2 Gene

GeneLoc Exon Structure for
UQCRC2

Expression for UQCRC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UQCRC2 Gene

mRNA differential expression in normal tissues according to GTEx for UQCRC2 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8) and Muscle - Skeletal (x4.1).

Protein differential expression in normal tissues from HIPED for UQCRC2 Gene

This gene is overexpressed in Nasal epithelium (11.3) and Heart (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UQCRC2 Gene



Protein tissue co-expression partners for UQCRC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UQCRC2

SOURCE GeneReport for Unigene cluster for UQCRC2 Gene:

Hs.528803

Evidence on tissue expression from TISSUES for UQCRC2 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Liver(4.8)
  • Skin(4.7)
  • Heart(4.6)
  • Intestine(4.3)
  • Kidney(3.8)
  • Muscle(3.7)
  • Eye(3.7)
  • Pancreas(3.5)
  • Stomach(3.1)
  • Blood(3.1)
  • Thyroid gland(2.5)
  • Spleen(2.3)
  • Lymph node(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCRC2 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 UQCRC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for UQCRC2 Gene

Orthologs for UQCRC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UQCRC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia UQCRC2 30 31
  • 99.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia UQCRC2 30 31
  • 89.85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia UQCRC2 30 31
  • 89.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Uqcrc2 30 17 31
  • 86.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Uqcrc2 30
  • 85.77 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia UQCRC2 31
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia UQCRC2 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves UQCRC2 30 31
  • 70.51 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia UQCRC2 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia uqcrc2 30
  • 69.33 (n)
Str.5522 30
African clawed frog
(Xenopus laevis)
Amphibia uqcrc2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii uqcrc2b 30 31
  • 65.01 (n)
OneToMany
uqcrc2a 31
  • 56 (a)
OneToMany
wufb64g04 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10801 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4169 30 31 32
  • 43.61 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006099 30
  • 42.95 (n)
Worm
(Caenorhabditis elegans)
Secernentea ucr-2.3 31
  • 27 (a)
OneToMany
ucr-2.2 31
  • 27 (a)
OneToMany
T10B10.2 32
  • 27 (a)
T24C4.1 32
  • 27 (a)
ucr-2.1 31
  • 24 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAS2 31
  • 23 (a)
OneToMany
QCR2 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G51980 30
  • 44.28 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0191500 30
  • 44.52 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3358 31
  • 33 (a)
OneToOne
Species where no ortholog for UQCRC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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 Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for UQCRC2 Gene

ENSEMBL:
Gene Tree for UQCRC2 (if available)
TreeFam:
Gene Tree for UQCRC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UQCRC2: view image

Paralogs for UQCRC2 Gene

Paralogs for UQCRC2 Gene

Pseudogenes.org Pseudogenes for UQCRC2 Gene

genes like me logo Genes that share paralogs with UQCRC2: view

Variants for UQCRC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UQCRC2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
674891 Likely Benign: not provided 21,971,873(+) A/G INTRON_VARIANT
675590 Benign: not provided 21,968,532(+) A/G INTRON_VARIANT
715678 Likely Benign: not provided 21,962,453(+) G/C INTRON_VARIANT
732802 Likely Benign: not provided 21,965,404(+) A/G INTRON_VARIANT
734842 Likely Benign: not provided 21,965,481(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for UQCRC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for UQCRC2 Gene

Variant ID Type Subtype PubMed ID
dgv3n1 OTHER inversion 15895083
dgv47n16 OTHER inversion 17901297
esv3368991 OTHER inversion 20981092
esv34235 CNV gain 17911159
esv34544 CNV gain 17911159
esv3638193 CNV gain 21293372
esv998989 OTHER inversion 20482838
nsv1048054 CNV gain 25217958
nsv1077770 OTHER inversion 25765185
nsv1140248 OTHER inversion 24896259
nsv428322 CNV gain 18775914
nsv499139 OTHER inversion 21111241
nsv7280 OTHER inversion 18451855

Variation tolerance for UQCRC2 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UQCRC2 Gene

Human Gene Mutation Database (HGMD)
UQCRC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCRC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCRC2 Gene

Disorders for UQCRC2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for UQCRC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, nuclear type 3
  • mc5dn3
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
conjugate gaze palsy
  • palsy of conjugate gaze
gracile syndrome
  • growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

QCR2_HUMAN
  • Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:23281071}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for UQCRC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with UQCRC2: view

No data available for Genatlas for UQCRC2 Gene

Publications for UQCRC2 Gene

  1. Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart. (PMID: 2547763) Hosokawa Y … Ozawa T (The Journal of biological chemistry 1989) 2 3 4
  2. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. (PMID: 31536960) Moutaoufik MT … Babu M (iScience 2019) 3 4
  3. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. (PMID: 23281071) Miyake N … Matsumoto N (Human mutation 2013) 3 4
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 41
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for UQCRC2 Gene

  • Signalway ELISA kits for UQCRC2
  • Signalway Proteins for UQCRC2

Sources for UQCRC2 Gene