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 comp... See more...

Aliases for COX14 Gene

Aliases for COX14 Gene

  • Cytochrome C Oxidase Assembly Factor COX14 2 3 5
  • Cytochrome C Oxidase Assembly Protein COX14 3 4
  • COX14, Cytochrome C Oxidase Assembly Factor 2 3
  • 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
  • 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 (Cytochrome C Oxidase Assembly Factor COX14) is a Protein Coding gene. Diseases associated with COX14 include Mitochondrial Complex Iv Deficiency and Nuclear Gene-Encoded Leigh Syndrome. 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 Summary 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 , Rfam classification and piRNA Summary for COX14 Gene

Genomics for COX14 Gene

GeneHancer (GH) Regulatory Elements for COX14 Gene

Promoters and enhancers for COX14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COX14 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COX14

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)
Size:
8,479 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

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

  • 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

Gene Families for COX14 Gene

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

Protein Domains for COX14 Gene

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

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

CRISPR Products

miRNA for COX14 Gene

miRTarBase miRNAs that target COX14

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
nucleus 2
cytosol 2
extracellular 1
endoplasmic reticulum 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 IBA,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

mRNA/cDNA for COX14 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 COX14

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

Expression for COX14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for COX14 Gene



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

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 COX14 31
  • 100 (a)
OneToOne
LOC100613511 30
  • 100 (n)
dog
(Canis familiaris)
Mammalia COX14 31 30
  • 92.26 (n)
OneToOne
cow
(Bos Taurus)
Mammalia COX14 31 30
  • 90.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cox14 17 31 30
  • 85.38 (n)
rat
(Rattus norvegicus)
Mammalia Cox14 30
  • 85.38 (n)
lizard
(Anolis carolinensis)
Reptilia COX14 31
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cox14 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for COX14: view image

Paralogs for COX14 Gene

No data available for Paralogs for COX14 Gene

Variants for COX14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COX14 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs148220171 Uncertain Significance: not provided 50,120,164(+) C/T MISSENSE_VARIANT
rs200753288 Likely Benign: not specified 50,120,022(+) A/G INTRON_VARIANT
rs34028295 Likely Pathogenic: not provided 50,120,118(+) T/TG FRAMESHIFT_VARIANT
rs372336241 Likely Benign: not provided 50,120,193(+) A/G SYNONYMOUS_VARIANT
rs587776904 Pathogenic: Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency. - 50,120,100(+) G/Ap.Met19Ile MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for COX14 Gene

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

SNP Genotyping and Copy Number Assay Products

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: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex iv deficiency
  • cytochrome c oxidase deficiency
nuclear gene-encoded leigh syndrome
lactic acidosis
  • acidosis lactic
renal hypoplasia
cerebral amyloid angiopathy, app-related
  • amyloidosis, cerebroarterial, app-related
- 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. 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 54
  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 EA (American journal of human genetics 2012) 2 3 4 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. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54
  5. Mitochondrial Protein Synthesis Adapts to Influx of Nuclear-Encoded Protein. (PMID: 27693358) Richter-Dennerlein R … Dennerlein S (Cell 2016) 3 54

Products for COX14 Gene

Sources for COX14 Gene