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Aliases for COX6C Gene

Aliases for COX6C Gene

  • Cytochrome C Oxidase Subunit 6C 2 3 3 5
  • Cytochrome C Oxidase Polypeptide VIc 3 4
  • Cytochrome C Oxidase Subunit VIc Preprotein 3
  • Cytochrome C Oxidase Subunit VIc 2

External Ids for COX6C Gene

Previous GeneCards Identifiers for COX6C Gene

  • GC08M100964
  • GC08M100509
  • GC08M100846
  • GC08M100959
  • GC08M096092
  • GC08M100885

Summaries for COX6C Gene

Entrez Gene Summary for COX6C Gene

  • Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]

GeneCards Summary for COX6C Gene

COX6C (Cytochrome C Oxidase Subunit 6C) is a Protein Coding gene. Diseases associated with COX6C include Cohen Syndrome. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for COX6C Gene

  • This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.

Gene Wiki entry for COX6C Gene

Additional gene information for COX6C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX6C Gene

Genomics for COX6C Gene

GeneHancer (GH) Regulatory Elements for COX6C Gene

Promoters and enhancers for COX6C 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
GH08J099891 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.8 844 2.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 COX6C VPS13B PABPC1 OSR2 ANKRD46 GC08M099806
GH08J099903 Enhancer 0.8 ENCODE 0.4 -10.9 -10926 2.2 PKNOX1 CLOCK NFIB NEUROD1 NFXL1 ZBTB40 RFX5 FOS HCFC1 GATAD2B RGS22 MIR1273A VPS13B COX6C PIR32500
GH08J099858 Enhancer 1 Ensembl ENCODE 0.3 +32.7 32729 4.9 CTCF RB1 NFATC3 FEZF1 RAD21 YY1 CHAMP1 CC2D1A ZFHX2 ARID2 ENSG00000253912 ENSG00000253539 RGS22 VPS13B COX6C GC08M099806
GH08J099869 Enhancer 0.8 ENCODE 0.3 +24.4 24444 0.9 PKNOX1 MZF1 FEZF1 ZIC2 YY1 CTBP1 ZNF366 ZBTB48 ZSCAN5C ZNF639 VPS13B COX6C GC08M099806
GH08J099874 Enhancer 0.6 ENCODE 0.4 +19.9 19874 0.2 JUN NR2F1 FEZF1 ZEB2 ATF2 OSR2 HIC1 PRDM6 ZNF629 ATF7 COX6C GC08M099806 VPS13B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COX6C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the COX6C gene promoter:

Genomic Locations for COX6C Gene

Genomic Locations for COX6C Gene
chr8:99,873,200-99,894,062
(GRCh38/hg38)
Size:
20,863 bases
Orientation:
Minus strand
chr8:100,885,428-100,906,290
(GRCh37/hg19)

Genomic View for COX6C Gene

Genes around COX6C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX6C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX6C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX6C Gene

Proteins for COX6C Gene

  • Protein details for COX6C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09669-COX6C_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 6C
    Protein Accession:
    P09669
    Secondary Accessions:
    • B2R4D7

    Protein attributes for COX6C Gene

    Size:
    75 amino acids
    Molecular mass:
    8781 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX6C Gene

Post-translational modifications for COX6C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for COX6C Gene

Domains & Families for COX6C Gene

Gene Families for COX6C Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for COX6C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09669

UniProtKB/Swiss-Prot:

COX6C_HUMAN :
  • Belongs to the cytochrome c oxidase subunit 6c family.
Family:
  • Belongs to the cytochrome c oxidase subunit 6c family.
genes like me logo Genes that share domains with COX6C: view

Function for COX6C Gene

Molecular function for COX6C Gene

UniProtKB/Swiss-Prot Function:
This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
GENATLAS Biochemistry:
cytochrome c oxidase,subunit VIc,component of the complex IV,terminal enzyme complex for electron transfer,oxidative phosphorylation (OXPHOS),inner mitochondrial membrane,fused with HMGIC in uterine leiomyoma t(8;12)(q22;q15)

Phenotypes From GWAS Catalog for COX6C Gene

Gene Ontology (GO) - Molecular Function for COX6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
genes like me logo Genes that share ontologies with COX6C: view
genes like me logo Genes that share phenotypes with COX6C: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX6C Gene

Localization for COX6C Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX6C Gene

Mitochondrion inner membrane.

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 COX6C gene
Compartment Confidence
mitochondrion 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with COX6C: view

Pathways & Interactions for COX6C Gene

genes like me logo Genes that share pathways with COX6C: view

Gene Ontology (GO) - Biological Process for COX6C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006091 generation of precursor metabolites and energy TAS 2849755
GO:0006123 mitochondrial electron transport, cytochrome c to oxygen TAS --
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX6C: view

No data available for SIGNOR curated interactions for COX6C Gene

Drugs & Compounds for COX6C Gene

(4) Drugs for COX6C Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cholic acid Approved Pharma Full agonist, Agonist, Target 0
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
N-Formylmethionine Experimental Pharma Target 0
genes like me logo Genes that share compounds with COX6C: view

Transcripts for COX6C Gene

mRNA/cDNA for COX6C Gene

Unigene Clusters for COX6C Gene

Cytochrome c oxidase subunit VIc:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COX6C Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7
SP1: - - - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - - -
SP6: - -

Relevant External Links for COX6C Gene

GeneLoc Exon Structure for
COX6C
ECgene alternative splicing isoforms for
COX6C

Expression for COX6C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for COX6C Gene

Protein differential expression in normal tissues from HIPED for COX6C Gene

This gene is overexpressed in Nasal epithelium (20.6) and Heart (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for COX6C Gene



Protein tissue co-expression partners for COX6C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of COX6C Gene:

COX6C

SOURCE GeneReport for Unigene cluster for COX6C Gene:

Hs.351875

Evidence on tissue expression from TISSUES for COX6C Gene

  • Nervous system(4.8)
  • Eye(4.4)
  • Heart(3.4)
  • Muscle(3.3)
  • Liver(2.6)
  • Adrenal gland(2.4)
  • Gall bladder(2.4)
  • Intestine(2.4)
  • Kidney(2.4)
  • Lung(2.4)
  • Lymph node(2.4)
  • Pancreas(2.4)
  • Skin(2.4)
  • Spleen(2.4)
  • Stomach(2.4)
  • Thyroid gland(2.4)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with COX6C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX6C Gene

Orthologs for COX6C Gene

This gene was present in the common ancestor of chordates.

Orthologs for COX6C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX6C 34 33
  • 99.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia LOC102640946 33
  • 80.28 (n)
Cox6c 34
  • 72 (a)
OneToOne
Cox6c2 16
rat
(Rattus norvegicus)
Mammalia LOC100365711 33
  • 77.46 (n)
cow
(Bos Taurus)
Mammalia COX6C 34
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 73 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia COX6C 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves COX6C 34
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.21085 33
zebrafish
(Danio rerio)
Actinopterygii cox6c 34
  • 58 (a)
OneToOne
Species where no ortholog for COX6C 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COX6C Gene

ENSEMBL:
Gene Tree for COX6C (if available)
TreeFam:
Gene Tree for COX6C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX6C: view image

Paralogs for COX6C Gene

No data available for Paralogs for COX6C Gene

Variants for COX6C Gene

Sequence variations from dbSNP and Humsavar for COX6C Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs10106711 likely-benign, Cohen syndrome 99,877,598(-) T/G downstream_transcript_variant
rs1000022837 -- 99,893,236(-) G/A intron_variant
rs1000201937 -- 99,889,270(-) C/T intron_variant
rs1000228261 -- 99,883,478(-) T/C intron_variant
rs1000883175 -- 99,892,542(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for COX6C Gene

Variant ID Type Subtype PubMed ID
esv3891449 CNV loss 25118596
nsv476777 CNV novel sequence insertion 20440878

Variation tolerance for COX6C Gene

Residual Variation Intolerance Score: 54.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.92; 87.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX6C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX6C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX6C Gene

Disorders for COX6C Gene

MalaCards: The human disease database

(1) MalaCards diseases for COX6C Gene - From: GeneCards

Disorder Aliases PubMed IDs
cohen syndrome
  • coh1
- elite association - COSMIC cancer census association via MalaCards
Search COX6C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COX6C

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 COX6C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX6C Gene

Publications for COX6C Gene

  1. Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping. (PMID: 10072584) Hofmann S … Meitinger T (Cytogenetics and cell genetics 1998) 2 3 4 22 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 44 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. Two differentially expressed genes in normal human prostate tissue and in carcinoma. (PMID: 8705997) Wang FL … Pardee AB (Cancer research 1996) 3 22 58

Products for COX6C Gene

Sources for COX6C Gene

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