Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
MIRT712962	hsa-miR-632	HITS-CLIP	19536157
MIRT712961	hsa-miR-1231	HITS-CLIP	19536157
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
MIRT712962	hsa-miR-632	HITS-CLIP	19536157
MIRT712961	hsa-miR-1231	HITS-CLIP	19536157
MIRT2293551	hsa-miR-3123	CLIP-seq
MIRT2293552	hsa-miR-3613-3p	CLIP-seq
MIRT2293553	hsa-miR-3925-5p	CLIP-seq
MIRT2293554	hsa-miR-3942-3p	CLIP-seq
MIRT2293555	hsa-miR-4475	CLIP-seq
MIRT2293556	hsa-miR-4506	CLIP-seq
MIRT2293557	hsa-miR-4725-5p	CLIP-seq
MIRT2293558	hsa-miR-4766-5p	CLIP-seq
MIRT2293559	hsa-miR-483-3p	CLIP-seq
MIRT2293560	hsa-miR-504	CLIP-seq

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

MIM	HGNC	e!Ensembl
614771	40045	ENSG00000232838

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

MSRSSKVVLGLSVLLTAATVAGVHVKQQWDQQRLRDGVIRDIERQIRKKENIRLLGEQII
LTEQLEAEREKMLLAKGSQKS

Sequence length

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Mitochondrial complex IV deficiency, nuclear type 19	Likely pathogenic	rs2037617604	RCV001260985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PET117-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT	CORNEAL ENDOTHELIAL DYSTROPHY	BEFREE	20808945, 27310661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	28386624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	ORPHANET_DG	28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32075680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated cytochrome C oxidase deficiency	Isolated Cytochrome C Oxidase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	28386624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	28386624	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	25613900, 27998984, 28386624		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphous corneal dystrophy	Polymorphous corneal dystrophy	BEFREE	20808945, 27310661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	37845756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PET117 (PET117 cytochrome c oxidase chaperone)