Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005739 Component Mitochondrion IDA 22356826
GO:0033617 Process Mitochondrial cytochrome c oxidase assembly IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614771 40045 ENSG00000232838
Protein
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leigh syndrome Leigh Disease, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, Leigh Syndrome Due To Mitochondrial Complex II Deficiency, Leigh Syndrome due to Mitochondrial Complex III Deficiency, Leigh Syndrome due to Mitochondrial Complex IV Deficiency, Leigh Syndrome due to Mitochondrial Complex V Deficiency rs267606829, rs137852863, rs121908577, rs1445075330, rs121908985, rs104893898, rs28939679, rs104894705, rs1568985256, rs199476144, rs199474672, rs118192098, rs118192100, rs199476133, rs199476135
View all (107 more)
27998984, 25613900, 28386624
Unknown
Disease term Disease name Evidence References Source
Cytochrome-c oxidase deficiency Cytochrome-c Oxidase Deficiency 28386624 ClinVar
Cytochrome-C Oxidase Deficiency cytochrome-c oxidase deficiency disease GenCC
Mitochondrial Complex Deficiency mitochondrial complex 4 deficiency, nuclear type 19 GenCC
Leigh Syndrome Leigh syndrome GenCC
Associations from Text Mining
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