PET117 (PET117 cytochrome c oxidase chaperone)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100303755
Gene name Gene Name - the full gene name approved by the HGNC.
PET117 cytochrome c oxidase chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PET117
Synonyms (NCBI Gene) Gene synonyms aliases
CSRP2BP, MC4DN19
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.23
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614771 40045 ENSG00000232838
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease N/A N/A GenCC
Leigh Syndrome Leigh syndrome N/A N/A GenCC
Mitochondrial Complex Deficiency mitochondrial complex 4 deficiency, nuclear type 19 N/A N/A GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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