Gene Gene information from NCBI Gene database.
Entrez ID 1353
Gene name Cytochrome c oxidase copper chaperone COX11
Gene symbol COX11
Synonyms (NCBI Gene)
COX11PMC4DN23
Chromosome 17
Chromosome location 17q22
Summary Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochond
miRNA miRNA information provided by mirtarbase database.
177
miRTarBase ID miRNA Experiments Reference
MIRT904904 hsa-miR-1224-3p CLIP-seq
MIRT904905 hsa-miR-1245b-5p CLIP-seq
MIRT904906 hsa-miR-1260 CLIP-seq
MIRT904907 hsa-miR-1260b CLIP-seq
MIRT904908 hsa-miR-1280 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IEA
GO:0005515 Function Protein binding IPI 15840172, 33961781, 34400285
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 9878253
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603648 2261 ENSG00000166260
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y6N1
Protein name Cytochrome c oxidase assembly protein COX11, mitochondrial
Protein function Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04442 CtaG_Cox11 113 263 Cytochrome c oxidase assembly protein CtaG/Cox11 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9878253}.
Sequence
MGGLWRPGWRCVPFCGWRWIHPGSPTRAAERVEPFLRPEWSGTGGAERGLRWLGTWKRCS
LRARHPALQPPRRPKSSNPFTRAQEEERRRQNKTTLTYVAAVAVGMLGASYAAVPLYRLY
CQTTGLGGSAVAGHASDKIENMVPVKDRIIKISFNADVHASLQWNFRPQQTEIYVVPGET
ALAFYRAKNPTDKPVIGISTYNIVPFEAGQYFNKIQCFCFEEQRLNPQEEVDMPVFFYID
PEFAEDPRMIKVDLITLSYTFFE
AKEGHKLPVPGYN
Sequence length 276
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
  TP53 Regulates Metabolic Genes
Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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 23 Pathogenic rs1269413739, rs2509425417, rs770990177, rs2509376984 RCV003152578
RCV003152579
RCV003892098
RCV003892099
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
OBSESSIVE-COMPULSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 20699374, 22532573, 22863968, 28757652
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19330027, 20699374, 21949660, 22532573, 35772352 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Male Male breast neoplasms Pubtator 21949660 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of Male Breast Breast Carcinoma, male BEFREE 21949660
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 38078879 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 21775499 Associate
★☆☆☆☆
Found in Text Mining only
Leigh Disease Leigh syndrome Pubtator 38068960 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 20699374, 22532573, 22863968, 28757652
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial disease Pubtator 38068960 Associate
★☆☆☆☆
Found in Text Mining only
Mitochondrial encephalopathy Mitochondrial encephalopathy Pubtator 38068960 Associate
★☆☆☆☆
Found in Text Mining only