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Aliases for COX14 Gene

Aliases for COX14 Gene

  • COX14 Cytochrome C Oxidase Assembly Factor 2 3
  • COX14, Cytochrome C Oxidase Assembly Factor 3 5
  • C12orf62 3 4
  • COX14 Cytochrome C Oxidase Assembly Homolog (S. Cerevisiae) 2
  • COX14 Cytochrome C Oxidase Assembly Homolog 3
  • Cytochrome C Oxidase Assembly Homolog 14 3
  • Chromosome 12 Open Reading Frame 62 2

External Ids for COX14 Gene

Previous HGNC Symbols for COX14 Gene

  • C12orf62

Previous GeneCards Identifiers for COX14 Gene

  • GC12P050509

Summaries for COX14 Gene

Entrez Gene Summary for COX14 Gene

  • This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for COX14 Gene

COX14 (COX14 Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with COX14 include mitochondrial complex iv deficiency and isolated cytochrome c oxidase deficiency. Among its related pathways are Gene Expression and Metabolism.

UniProtKB/Swiss-Prot for COX14 Gene

  • Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COX14 Gene

Genomics for COX14 Gene

Genomic Location for COX14 Gene

Chromosome:
12
Start:
50,109,635 bp from pter
End:
50,120,457 bp from pter
Size:
10,823 bases
Orientation:
Plus strand

Genomic View for COX14 Gene

Genes around COX14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COX14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COX14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COX14 Gene

No data available for Regulatory Elements for COX14 Gene

Proteins for COX14 Gene

  • Protein details for COX14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96I36-COX14_HUMAN
    Recommended name:
    Cytochrome c oxidase assembly protein COX14
    Protein Accession:
    Q96I36
    Secondary Accessions:
    • B2R5G6

    Protein attributes for COX14 Gene

    Size:
    57 amino acids
    Molecular mass:
    6600 Da
    Quaternary structure:
    • Component of some MITRAC complex.

neXtProt entry for COX14 Gene

Proteomics data for COX14 Gene at MOPED

Post-translational modifications for COX14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COX14 Gene

No data available for DME Specific Peptides for COX14 Gene

Domains & Families for COX14 Gene

Protein Domains for COX14 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COX14: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for COX14 Gene

Function for COX14 Gene

Molecular function for COX14 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the assembly or stability of the cytochrome c oxidase complex (COX). Requires for coordination of the early steps of COX assembly with the synthesis of MT-CO1.

Phenotypes for COX14 Gene

GenomeRNAi human phenotypes for COX14:
genes like me logo Genes that share phenotypes with COX14: view

Human Phenotype Ontology for COX14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for COX14 Gene

miRTarBase miRNAs that target COX14

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for COX14 Gene

Localization for COX14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COX14 Gene

Mitochondrion membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COX14 Gene COMPARTMENTS Subcellular localization image for COX14 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for COX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 22243966
genes like me logo Genes that share ontologies with COX14: view

Pathways & Interactions for COX14 Gene

genes like me logo Genes that share pathways with COX14: view

Interacting Proteins for COX14 Gene

Gene Ontology (GO) - Biological Process for COX14 Gene

None

No data available for SIGNOR curated interactions for COX14 Gene

Drugs & Compounds for COX14 Gene

No Compound Related Data Available

Transcripts for COX14 Gene

Unigene Clusters for COX14 Gene

Cytochrome c oxidase assembly homolog 14 (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COX14 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c
SP1: - -
SP2: - -
SP3: - - -
SP4: - -

Relevant External Links for COX14 Gene

GeneLoc Exon Structure for
COX14
ECgene alternative splicing isoforms for
COX14

Expression for COX14 Gene

mRNA expression in normal human tissues for COX14 Gene

Protein differential expression in normal tissues from HIPED for COX14 Gene

This gene is overexpressed in Heart (11.4), Prostate (8.3), Islet of Langerhans (7.5), Kidney (6.5), and Liver (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for COX14 Gene



SOURCE GeneReport for Unigene cluster for COX14 Gene Hs.388645

genes like me logo Genes that share expression patterns with COX14: view

Primer Products

In Situ Assay Products

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 Protein tissue co-expression partners for COX14 Gene

Orthologs for COX14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COX14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100613511 35
  • 100 (n)
  • 100 (a)
COX14 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COX14 36
  • 86 (a)
OneToOne
COX14 35
  • 90.06 (n)
  • 85.96 (a)
dog
(Canis familiaris)
Mammalia COX14 35
  • 92.26 (n)
  • 85.71 (a)
COX14 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cox14 16
Cox14 36
  • 81 (a)
OneToOne
Cox14 35
  • 85.38 (n)
  • 80.7 (a)
rat
(Rattus norvegicus)
Mammalia Cox14 35
  • 85.38 (n)
  • 82.46 (a)
lizard
(Anolis carolinensis)
Reptilia COX14 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cox14 36
  • 30 (a)
OneToOne
Species with no ortholog for COX14:
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 COX14 Gene

ENSEMBL:
Gene Tree for COX14 (if available)
TreeFam:
Gene Tree for COX14 (if available)

Paralogs for COX14 Gene

No data available for Paralogs for COX14 Gene

Variants for COX14 Gene

Sequence variations from dbSNP and Humsavar for COX14 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_067038 -
rs10817 -- 50,120,279(+) GTGGC(A/C/G/T)GGTGA utr-variant-3-prime
rs1059627 -- 50,120,310(+) TAGAG(C/T)GTTGA utr-variant-3-prime
rs7135322 -- 50,118,065(+) tttga(A/G)atgga intron-variant
rs7964522 -- 50,113,033(+) Ttttt(G/T)ttgtt intron-variant

Variation tolerance for COX14 Gene

Residual Variation Intolerance Score: 61% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for COX14 Gene

HapMap Linkage Disequilibrium report
COX14
Human Gene Mutation Database (HGMD)
COX14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for COX14 Gene

Disorders for COX14 Gene

MalaCards: The human disease database

(7) MalaCards diseases for COX14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
isolated cytochrome c oxidase deficiency
  • isolated cox deficiency
renal hypoplasia
lactic acidosis
  • acidosis lactic
survival motor neuron spinal muscular atrophy
  • spinal muscular atrophies of childhood
- elite association - COSMIC cancer census association via MalaCards
Search COX14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COX14_HUMAN
  • Note=Defects in COX14 may be a cause of a mitochondrial disorder presenting with severe congenital lactic acidosis and dysmorphic features associated with a COX assembly defect. Other features include brain hypertrophy, diffuse alteration of the white-matter myelination, and numerous cavities in the parieto-occipital region, brainstem, and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal-gland hyperplasia. {ECO:0000269 PubMed:22243966}.

Relevant External Links for COX14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COX14
genes like me logo Genes that share disorders with COX14: view

No data available for Genatlas for COX14 Gene

Publications for COX14 Gene

  1. Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. (PMID: 22356826) Szklarczyk R. … Huynen M.A. (Genome Biol. 2012) 2 3 4 67
  2. Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. (PMID: 22243966) Weraarpachai W. … Shoubridge E.A. (Am. J. Hum. Genet. 2012) 2 3
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PMID: 15342556) Suzuki Y. … Sugano S. (Genome Res. 2004) 3

Products for COX14 Gene

Sources for COX14 Gene

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