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Aliases for COX14 Gene

Aliases for COX14 Gene

  • COX14, Cytochrome C Oxidase Assembly Factor 2 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 Protein COX14 3
  • Cytochrome C Oxidase Assembly Homolog 14 3
  • Chromosome 12 Open Reading Frame 62 2
  • PCAG1 3

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 Muscular Dystrophy, Congenital, Megaconial Type. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene Expression.

UniProtKB/Swiss-Prot for COX14 Gene

  • Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1.

Additional gene information for COX14 Gene

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

Genomics for COX14 Gene

GeneHancer (GH) Regulatory Elements for COX14 Gene

Promoters and enhancers for COX14 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
GH12I050106 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 556 +0.4 443 6.6 CLOCK MLX DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D ZNF610 COX14 GC12M050105 CERS5 FAM186B LMBR1L ATF1 LIMA1 ENSG00000272368 GPD1
GH12I050399 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 9.6 +292.2 292248 4 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 ZNF610 ZNF585B NBN GC12M050402 LARP4 LIMA1 SMARCD1 PRPF40B BCDIN3D ATF1 LOC100422296 ENSG00000257298 ENSG00000257964
GH12I050200 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.3 +92.9 92852 4.6 USF1 JUN ZIC2 RAD21 BRCA1 RFX5 CTBP1 GATA3 POLR2A SCRT2 LIMA1 CERS5 RNU6-1093P COX14 LARP4 FAM186A ATF1 PIR58326 ENSG00000257298 GC12M050135
GH12I050015 Enhancer 0.9 Ensembl ENCODE 9.7 -91.8 -91811 3.7 HDAC1 MEIS2 PKNOX1 ZBTB21 JUN ZNF697 ZNF316 FOXK2 NCOR1 RCOR1 ASIC1 BCDIN3D-AS1 AQP6 AQP5 RACGAP1 AQP2 ENSG00000272368 COX14 LIMA1 LARP4
GH12I050389 Enhancer 0.9 Ensembl ENCODE 9.6 +280.9 280882 1.6 PKNOX1 JUN RFX5 CTBP1 GATA3 POLR2A FOS FOSL2 DEK ZNF3 LARP4 LIMA1 COX14 FAM186A GC12P050366
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around COX14 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COX14 Gene

Genomic Locations for COX14 Gene
chr12:50,109,635-50,120,457
(GRCh38/hg38)
Size:
10,823 bases
Orientation:
Plus strand
chr12:50,505,762-50,514,240
(GRCh37/hg19)

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

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:
    • Along with COA3, core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex.

neXtProt entry for COX14 Gene

Post-translational modifications for COX14 Gene

No Post-translational modifications

Other Protein References for COX14 Gene

No data available for DME Specific Peptides for COX14 Gene

Domains & Families for COX14 Gene

Gene Families for COX14 Gene

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

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:
Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1.

Phenotypes From GWAS Catalog for COX14 Gene

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

Inhibitory RNA Products

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
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 COX14 gene
Compartment Confidence
mitochondrion 5
extracellular 2
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 22243966
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
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

Gene Ontology (GO) - Biological Process for COX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033617 mitochondrial respiratory chain complex IV assembly TAS 22356826
genes like me logo Genes that share ontologies with COX14: view

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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for COX14 Gene



NURSA nuclear receptor signaling pathways regulating expression of COX14 Gene:

COX14

SOURCE GeneReport for Unigene cluster for COX14 Gene:

Hs.388645

Evidence on tissue expression from TISSUES for COX14 Gene

  • Nervous system(4.3)
  • Muscle(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for COX14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • bronchus
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • kidney
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with COX14: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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 33
  • 100 (n)
COX14 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COX14 33 34
  • 92.26 (n)
cow
(Bos Taurus)
Mammalia COX14 33 34
  • 90.06 (n)
mouse
(Mus musculus)
Mammalia Cox14 33 16 34
  • 85.38 (n)
rat
(Rattus norvegicus)
Mammalia Cox14 33
  • 85.38 (n)
lizard
(Anolis carolinensis)
Reptilia COX14 34
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cox14 34
  • 30 (a)
OneToOne
Species where no ortholog for COX14 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)
  • 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 Variation AA Info Type
rs587776904 pathogenic, Cytochrome-c oxidase deficiency 50,120,100(+) G/A coding_sequence_variant, missense_variant
rs34028295 likely-pathogenic, not provided 50,120,119(+) GGGGGG/GGGGG/GGGGGGG coding_sequence_variant, frameshift
rs974992601 likely-benign, not specified 50,112,316(+) A/G 5_prime_UTR_variant, intron_variant
rs148220171 uncertain-significance, not specified 50,120,164(+) C/T coding_sequence_variant, missense_variant
rs1000506819 -- 50,120,688(+) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for COX14 Gene

Variant ID Type Subtype PubMed ID
nsv558840 CNV loss 21841781

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)

Additional Variant Information for COX14 Gene

Human Gene Mutation Database (HGMD)
COX14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
COX14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COX14 Gene

Disorders for COX14 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
muscular dystrophy, congenital, megaconial type
  • mdcmc
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}.

Additional Disease Information for 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. 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 EA (American journal of human genetics 2012) 2 3 4 58
  2. 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 MA (Genome biology 2012) 2 3 4 58
  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 58
  4. Mitochondrial Protein Synthesis Adapts to Influx of Nuclear-Encoded Protein. (PMID: 27693358) Richter-Dennerlein R … Dennerlein S (Cell 2016) 3 58
  5. Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. (PMID: 25604084) Ostergaard E … Vissing J (Journal of medical genetics 2015) 3 58

Products for COX14 Gene

Sources for COX14 Gene

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