COX14 (cytochrome c oxidase assembly factor COX14)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84987
Gene name Cytochrome c oxidase assembly factor COX14
Gene symbol COX14
Synonyms (NCBI Gene)
C12orf62MC4DN10PCAG1
Chromosome 12
Chromosome location 12q13.12
Summary 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 synth
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs34028295 G>-,GG Likely-pathogenic Frameshift variant, coding sequence variant
rs587776904 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT052620 hsa-let-7a-5p CLASH 23622248
MIRT051682 hsa-let-7e-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 22243966, 22356826
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614478 28216 ENSG00000178449
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96I36
Protein name Cytochrome c oxidase assembly protein COX14
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14880 COX14 1 → 56 Cytochrome oxidase c assembly Family
Sequence
Sequence length 57
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Thermogenesis   TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Mitochondrial complex IV deficiency, nuclear type 10 Pathogenic rs587776904 RCV000024195
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE — ClinGen, ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 22243966 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Fanconi syndrome Fanconi syndrome HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency GENOMICS_ENGLAND_DG 22243966, 27604308
★★★★★
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency ORPHANET_DG 22243966
★★★★★
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cytochrome-c Oxidase Deficiency Cytochrome-C Oxidase Deficiency CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only