PET117 (PET117 cytochrome c oxidase chaperone)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 100303755
Gene name PET117 cytochrome c oxidase chaperone
Gene symbol PET117
Synonyms (NCBI Gene)
CSRP2BPMC4DN19
Chromosome 20
Chromosome location 20p11.23
miRNA miRNA information provided by mirtarbase database.
24
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (24)
miRTarBase ID miRNA Experiments Reference
MIRT712967 hsa-miR-8485 HITS-CLIP 19536157
MIRT712966 hsa-miR-4636 HITS-CLIP 19536157
MIRT712965 hsa-miR-6755-3p HITS-CLIP 19536157
MIRT712964 hsa-miR-505-3p HITS-CLIP 19536157
MIRT712963 hsa-miR-4288 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 22356826
GO:0005739 Component Mitochondrion IEA
GO:0033617 Process Mitochondrial cytochrome c oxidase assembly IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614771 40045 ENSG00000232838
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UWS5
Protein name Protein PET117 homolog, mitochondrial
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15786 PET117 4 → 69 PET assembly of cytochrome c oxidase, mitochondrial Family
Sequence
Sequence length 81
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex IV deficiency, nuclear type 19 Likely pathogenic rs2037617604 RCV001260985
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PET117-related disorder Likely benign rs554112747 RCV003917331
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cytochrome c Oxidase Deficiency Associate 28386624
Diabetes Mellitus Associate 32075680
Mitochondrial Diseases Associate 28386624
Mouth Diseases Associate 28386624
Neoplasm Metastasis Associate 37845756
Persistent Infection Associate 32075680
Uterine Cervical Neoplasms Associate 37845756