Aliases for COX8C Gene

Aliases for COX8C Gene

  • Cytochrome C Oxidase Subunit 8C 2 3 5
  • Cytochrome C Oxidase Subunit VIIIC 2 3 4
  • Cytochrome C Oxidase Subunit 8C, Mitochondrial 3 4
  • Cytochrome C Oxidase Subunit 8-3 3 4
  • COX VIII-3 3 4
  • COX8-3 3 4
  • Cytochrome C Oxidase Polypeptide VIII Isoform 3 4
  • Cytochrome C Oxidase Polypeptide 8 Isoform 3 4
  • Cytochrome C Oxidase Subunit VIII Isoform 3 2
  • Cytochrome C Oxidase Polypeptide VIII 3
  • Cytochrome C Oxidase Polypeptide 8 3
  • Cytochrome C Oxidase Subunit VIII 3

External Ids for COX8C Gene

Previous GeneCards Identifiers for COX8C Gene

  • GC14P091803
  • GC14P092883
  • GC14P093813
  • GC14P073993

Summaries for COX8C Gene

GeneCards Summary for COX8C Gene

COX8C (Cytochrome C Oxidase Subunit 8C) is a Protein Coding gene. Diseases associated with COX8C include Spinal Cord Lipoma and Central Nervous System Lipoma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX8A.

UniProtKB/Swiss-Prot Summary for COX8C Gene

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

Additional gene information for COX8C Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COX8C Gene

Genomics for COX8C Gene

GeneHancer (GH) Regulatory Elements for COX8C Gene

Promoters and enhancers for COX8C 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
GH14J093329 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 -15.2 -15228 5.7 TCF12 MYC NRF1 USF1 POLR2G NCOR1 PHF8 FOS ZFX POLR2A BTBD7 UNC79 COX8C FAM181A-AS1 ENSG00000278396 HE855966
GH14J093347 Promoter 0.6 EPDnew 500.7 0.0 -18 0.1 CTCF RAD21 HNRNPK CTCFL COX8C ENSG00000278396 UNC79
GH14J093298 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11 -43.3 -43281 13.8 ZNF423 OSR2 ZNF316 NFIC ZBTB17 MAFF POLR2A MAFK GATA3 FOS BTBD7 UNC79 COX8C UBR7 OTUB2 PRIMA1 HE855966
GH14J093430 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 9.9 +83.7 83719 1.8 EP300 JUND ZIC2 REST SAP30 HDAC2 MXI1 ZNF341 POLR2A SMC3 COX8C HQ292113 piR-47086-119 UNC79
GH14J093375 Enhancer 1.2 FANTOM5 Ensembl ENCODE 10.8 +28.8 28819 1.6 SP1 EP300 RELA TRIM22 BCL11A TCF12 USF2 ARNT MEF2B NBN COX8C RNU6-1258P BTBD7 UNC79 RF00017-1664 piR-35674-153
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX8C on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX8C

Top Transcription factor binding sites by QIAGEN in the COX8C gene promoter:
  • aMEF-2
  • GATA-1
  • Hlf
  • HSF2
  • LUN-1
  • MEF-2A
  • Sp1
  • Spz1
  • TBP
  • TGIF

Genomic Locations for COX8C Gene

Genomic Locations for COX8C Gene
chr14:93,347,182-93,348,356
(GRCh38/hg38)
Size:
1,175 bases
Orientation:
Plus strand
chr14:93,813,537-93,814,702
(GRCh37/hg19)
Size:
1,166 bases
Orientation:
Plus strand

Genomic View for COX8C Gene

Genes around COX8C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX8C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX8C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX8C Gene

Proteins for COX8C Gene

  • Protein details for COX8C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z4L0-COX8C_HUMAN
    Recommended name:
    Cytochrome c oxidase subunit 8C, mitochondrial
    Protein Accession:
    Q7Z4L0
    Secondary Accessions:
    • Q495K7

    Protein attributes for COX8C Gene

    Size:
    72 amino acids
    Molecular mass:
    8129 Da
    Quaternary structure:
    No Data Available

neXtProt entry for COX8C Gene

Post-translational modifications for COX8C Gene

No Post-translational modifications

Other Protein References for COX8C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for COX8C Gene

Domains & Families for COX8C Gene

Gene Families for COX8C Gene

Protein Domains for COX8C Gene

Blocks:
  • Cytochrome oxidase c, subunit VIII
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COX8C Gene

GenScript: Design optimal peptide antigens:
  • Cytochrome c oxidase subunit 8-3 (COX8C_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z4L0

UniProtKB/Swiss-Prot:

COX8C_HUMAN :
  • Belongs to the cytochrome c oxidase VIII family.
Family:
  • Belongs to the cytochrome c oxidase VIII family.
genes like me logo Genes that share domains with COX8C: view

Function for COX8C Gene

Molecular function for COX8C 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.

Phenotypes From GWAS Catalog for COX8C Gene

Gene Ontology (GO) - Molecular Function for COX8C 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 COX8C: view
genes like me logo Genes that share phenotypes with COX8C: view

Animal Model Products

CRISPR Products

miRNA for COX8C Gene

miRTarBase miRNAs that target COX8C

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for COX8C

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for COX8C Gene

Localization for COX8C Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX8C 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 COX8C gene
Compartment Confidence
mitochondrion 5
extracellular 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COX8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 12762575
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0045277 respiratory chain complex IV IBA 21873635
genes like me logo Genes that share ontologies with COX8C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for COX8C Gene

Pathways & Interactions for COX8C Gene

genes like me logo Genes that share pathways with COX8C: view

Pathways by source for COX8C Gene

1 Qiagen pathway for COX8C Gene
  • AMPK Enzyme Complex Pathway

Interacting Proteins for COX8C Gene

;

Gene Ontology (GO) - Biological Process for COX8C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022900 electron transport chain IEA --
GO:1902600 proton transmembrane transport IEA --
genes like me logo Genes that share ontologies with COX8C: view

No data available for SIGNOR curated interactions for COX8C Gene

Drugs & Compounds for COX8C Gene

(2) Drugs for COX8C Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0
genes like me logo Genes that share compounds with COX8C: view

Transcripts for COX8C Gene

mRNA/cDNA for COX8C Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 COX8C

Alternative Splicing Database (ASD) splice patterns (SP) for COX8C Gene

No ASD Table

Relevant External Links for COX8C Gene

GeneLoc Exon Structure for
COX8C

Expression for COX8C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COX8C Gene

mRNA differential expression in normal tissues according to GTEx for COX8C Gene

This gene is overexpressed in Testis (x45.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COX8C

SOURCE GeneReport for Unigene cluster for COX8C Gene:

Hs.666459

mRNA Expression by UniProt/SwissProt for COX8C Gene:

Q7Z4L0-COX8C_HUMAN
Tissue specificity: It is not yet known where COX8C is expressed.
genes like me logo Genes that share expression patterns with COX8C: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for COX8C Gene

Orthologs for COX8C Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for COX8C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COX8C 31
  • 89 (a)
OneToOne
Species where no ortholog for COX8C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for COX8C Gene

ENSEMBL:
Gene Tree for COX8C (if available)
TreeFam:
Gene Tree for COX8C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COX8C: view image

Paralogs for COX8C Gene

Paralogs for COX8C Gene

(2) SIMAP similar genes for COX8C Gene using alignment to 1 proteins:

  • COX8C_HUMAN

Pseudogenes.org Pseudogenes for COX8C Gene

genes like me logo Genes that share paralogs with COX8C: view

Variants for COX8C Gene

Additional dbSNP identifiers (rs#s) for COX8C Gene

Variation tolerance for COX8C Gene

Residual Variation Intolerance Score: 65.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COX8C Gene

Human Gene Mutation Database (HGMD)
COX8C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX8C

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for COX8C Gene

Disorders for COX8C Gene

MalaCards: The human disease database

(3) MalaCards diseases for COX8C Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal cord lipoma
  • lipoma of spinal cord
central nervous system lipoma
  • lipoma of the cns
tethered spinal cord syndrome
  • spinal dysraphism
- elite association - COSMIC cancer census association via MalaCards
Search COX8C in MalaCards View complete list of genes associated with diseases

Additional Disease Information for COX8C

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 COX8C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COX8C Gene

Publications for COX8C Gene

  1. A third isoform of cytochrome c oxidase subunit VIII is present in mammals. (PMID: 12909344) Hüttemann M … Grossman LI (Gene 2003) 2 3 4 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. 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 54
  4. HIV-1 Tat protein directly induces mitochondrial membrane permeabilization and inactivates cytochrome c oxidase. (PMID: 22419111) Lecoeur H … Jacotot E (Cell death & disease 2012) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for COX8C Gene

Sources for COX8C Gene