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Aliases for COQ4 Gene

Aliases for COQ4 Gene

  • Coenzyme Q4 2 3 5
  • Coenzyme Q Biosynthesis Protein 4 Homolog 3 4
  • Ubiquinone Biosynthesis Protein COQ4 Homolog, Mitochondrial 3
  • Coenzyme Q4 Homolog (S. Cerevisiae) 2
  • Coenzyme Q4 Homolog (Yeast) 2
  • Coenzyme Q4 Homolog 3
  • COQ10D7 3
  • CGI-92 3

External Ids for COQ4 Gene

Previous GeneCards Identifiers for COQ4 Gene

  • GC09P122199
  • GC09P122731
  • GC09P124538
  • GC09P126460
  • GC09P128164
  • GC09P130124
  • GC09P131084
  • GC09P100697

Summaries for COQ4 Gene

Entrez Gene Summary for COQ4 Gene

  • This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for COQ4 Gene

COQ4 (Coenzyme Q4) is a Protein Coding gene. Diseases associated with COQ4 include Coenzyme Q10 Deficiency, Primary, 7 and Mitochondrial Encephalomyopathy.

UniProtKB/Swiss-Prot for COQ4 Gene

  • Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.

Gene Wiki entry for COQ4 Gene

Additional gene information for COQ4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COQ4 Gene

Genomics for COQ4 Gene

GeneHancer (GH) Regulatory Elements for COQ4 Gene

Promoters and enhancers for COQ4 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
GH09I128321 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 560.7 +0.4 376 3.3 HDGF PKNOX1 CLOCK SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 COQ4 TRUB2 URM1 SNORA65 LOC102723566 NUP188 ZNF79 GOLGA2 FPGS PKN3
GH09I128946 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.7 +625.2 625180 2.2 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 NUP188 DOLK SPOUT1 LOC101929314 ENSG00000234055 SH3GLB2 GOLGA2 NAIF1 PRRX2 GLE1
GH09I128503 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.8 +182.2 182213 2.5 HDGF MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B SLC30A9 POLR2B ZNF207 GLE1 NAIF1 COQ4 ODF2-AS1 NUP188 WDR34 SPTAN1 LOC101929270 RNU7-171P
GH09I128190 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10 -130.4 -130357 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 CIZ1 DNM1 SNORA65 NUP188 GOLGA2 URM1 ZNF79 NAIF1 GLE1 SPOUT1
GH09I128828 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 9.9 +507.0 506974 1.9 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 FOS SPOUT1 GOLGA2 PKN3 LOC101929314 NUP188 ODF2 CIZ1 SLC25A25-AS1 TOR1B ENSG00000272696
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COQ4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COQ4 gene promoter:

Genomic Locations for COQ4 Gene

Genomic Locations for COQ4 Gene
chr9:128,322,512-128,334,072
(GRCh38/hg38)
Size:
11,561 bases
Orientation:
Plus strand
chr9:131,084,791-131,096,351
(GRCh37/hg19)

Genomic View for COQ4 Gene

Genes around COQ4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COQ4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COQ4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COQ4 Gene

Proteins for COQ4 Gene

  • Protein details for COQ4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3A0-COQ4_HUMAN
    Recommended name:
    Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial
    Protein Accession:
    Q9Y3A0
    Secondary Accessions:
    • A8WBK8
    • B2R958
    • Q5T4B8
    • Q96EW4

    Protein attributes for COQ4 Gene

    Size:
    265 amino acids
    Molecular mass:
    29657 Da
    Quaternary structure:
    • Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9.

    Alternative splice isoforms for COQ4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COQ4 Gene

Post-translational modifications for COQ4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COQ4 Gene

No data available for DME Specific Peptides for COQ4 Gene

Domains & Families for COQ4 Gene

Gene Families for COQ4 Gene

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

Protein Domains for COQ4 Gene

Suggested Antigen Peptide Sequences for COQ4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y3A0

UniProtKB/Swiss-Prot:

COQ4_HUMAN :
  • Belongs to the COQ4 family.
Family:
  • Belongs to the COQ4 family.
genes like me logo Genes that share domains with COQ4: view

Function for COQ4 Gene

Molecular function for COQ4 Gene

UniProtKB/Swiss-Prot Function:
Component of the coenzyme Q biosynthetic pathway. May play a role in organizing a multi-subunit COQ enzyme complex required for coenzyme Q biosynthesis. Required for steady-state levels of other COQ polypeptides.

Phenotypes From GWAS Catalog for COQ4 Gene

Gene Ontology (GO) - Molecular Function for COQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25152161
genes like me logo Genes that share ontologies with COQ4: view
genes like me logo Genes that share phenotypes with COQ4: view

Human Phenotype Ontology for COQ4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for COQ4 Gene

MGI Knock Outs for COQ4:
  • Coq4 tm1a(EUCOMM)Wtsi

Animal Model Products

miRNA for COQ4 Gene

miRTarBase miRNAs that target COQ4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for COQ4 Gene

Localization for COQ4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COQ4 Gene

Isoform 1: 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 COQ4 gene
Compartment Confidence
mitochondrion 5
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0043234 protein complex IDA 25152161
genes like me logo Genes that share ontologies with COQ4: view

Pathways & Interactions for COQ4 Gene

No Data Available

UniProtKB/Swiss-Prot Q9Y3A0-COQ4_HUMAN

  • Pathway: Cofactor biosynthesis; ubiquinone biosynthesis.

Gene Ontology (GO) - Biological Process for COQ4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006744 ubiquinone biosynthetic process IEA --
genes like me logo Genes that share ontologies with COQ4: view

No data available for Pathways by source and SIGNOR curated interactions for COQ4 Gene

Drugs & Compounds for COQ4 Gene

No Compound Related Data Available

Transcripts for COQ4 Gene

Unigene Clusters for COQ4 Gene

Coenzyme Q4 homolog (S. cerevisiae):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COQ4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c · 10d
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - - - -
SP4: - - - -
SP5: -
SP6:
SP7: - - - - - -
SP8: - - - - -
SP9: - -
SP10: - - - -
SP11:
SP12:

Relevant External Links for COQ4 Gene

GeneLoc Exon Structure for
COQ4
ECgene alternative splicing isoforms for
COQ4

Expression for COQ4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COQ4 Gene

Protein differential expression in normal tissues from HIPED for COQ4 Gene

This gene is overexpressed in Cervix (39.2) and Bone (29.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for COQ4 Gene



Protein tissue co-expression partners for COQ4 Gene

NURSA nuclear receptor signaling pathways regulating expression of COQ4 Gene:

COQ4

SOURCE GeneReport for Unigene cluster for COQ4 Gene:

Hs.98541

mRNA Expression by UniProt/SwissProt for COQ4 Gene:

Q9Y3A0-COQ4_HUMAN
Tissue specificity: Expressed ubiquitously, but at high levels in liver, lung and pancreas.

Evidence on tissue expression from TISSUES for COQ4 Gene

  • Lung(4.2)
  • Nervous system(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COQ4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • lung
Abdomen:
  • stomach
genes like me logo Genes that share expression patterns with COQ4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for COQ4 Gene

Orthologs for COQ4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for COQ4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COQ4 33 34
  • 99.25 (n)
mouse
(Mus musculus)
Mammalia Coq4 33 16 34
  • 83.33 (n)
dog
(Canis familiaris)
Mammalia COQ4 33 34
  • 83.14 (n)
cow
(Bos Taurus)
Mammalia COQ4 33 34
  • 80.78 (n)
rat
(Rattus norvegicus)
Mammalia Coq4 33
  • 80.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COQ4 34
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COQ4 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves COQ4 33 34
  • 72.86 (n)
lizard
(Anolis carolinensis)
Reptilia COQ4 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia coq4 33
  • 68.12 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15921 33
zebrafish
(Danio rerio)
Actinopterygii coq4 33 34
  • 61.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32174 33 34
  • 55.13 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta COQ4_ANOGA 33
  • 51.23 (n)
worm
(Caenorhabditis elegans)
Secernentea coq-4 33 34
  • 48.2 (n)
T03F1.2 35
  • 43 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL103W 33
  • 51.11 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes COQ4 33 34 36
  • 47.23 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D18865g 33
  • 44.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G03690 33
  • 46.54 (n)
rice
(Oryza sativa)
Liliopsida Os04g0674200 33
  • 48.96 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02157 33
  • 49.7 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes coq4 33
  • 46.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2524 34
  • 45 (a)
OneToOne
Species where no ortholog for COQ4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 COQ4 Gene

ENSEMBL:
Gene Tree for COQ4 (if available)
TreeFam:
Gene Tree for COQ4 (if available)

Paralogs for COQ4 Gene

No data available for Paralogs for COQ4 Gene

Variants for COQ4 Gene

Sequence variations from dbSNP and Humsavar for COQ4 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1016089045 uncertain-significance, Coenzyme Q10 deficiency, primary, 7 128,333,536(+) C/A 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs138917651 likely-benign, not specified, Coenzyme Q10 deficiency, primary, 7 128,325,836(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs141228574 benign, not specified, Coenzyme Q10 deficiency, primary, 7 128,332,233(+) G/C coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs143441644 pathogenic, Coenzyme Q10 deficiency, primary, 7, not provided, Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276] 128,333,565(+) C/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs147142262 uncertain-significance, Coenzyme Q10 deficiency, primary, 7 128,332,211(+) A/G/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COQ4 Gene

Variant ID Type Subtype PubMed ID
nsv831728 CNV loss 17160897

Variation tolerance for COQ4 Gene

Residual Variation Intolerance Score: 77.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COQ4 Gene

Human Gene Mutation Database (HGMD)
COQ4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COQ4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COQ4 Gene

Disorders for COQ4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for COQ4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coenzyme q10 deficiency, primary, 7
  • coq10d7
mitochondrial encephalomyopathy
  • mitochondrial encephalomyopathies
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards
Search COQ4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COQ4_HUMAN
  • Coenzyme Q10 deficiency, primary, 7 (COQ10D7) [MIM:616276]: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset. {ECO:0000269 PubMed:25658047, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for COQ4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COQ4: view

No data available for Genatlas for COQ4 Gene

Publications for COQ4 Gene

  1. Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. (PMID: 18474229) Casarin A … Salviati L (Biochemical and biophysical research communications 2008) 2 3 4 58
  2. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. (PMID: 25658047) Brea-Calvo G … Ghezzi D (American journal of human genetics 2015) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for COQ4 Gene

Sources for COQ4 Gene

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