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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	51117
Gene name Gene Name - the full gene name approved by the HGNC.	Coenzyme Q4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	COQ4
Synonyms (NCBI Gene) Gene synonyms aliases	CGI-92, COQ10D7, SPAX10
Disease Acronyms (UniProt) Disease acronyms from UniProt database	COQ10D7, SPAX10
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q34.11
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appear

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs141303335	A>G	Likely-pathogenic	Splice acceptor variant
rs143441644	C>T	Pathogenic-likely-pathogenic, pathogenic	3 prime UTR variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs530213004	G>A,C,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs747779231	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant
rs773943371	C>T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs774395996	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, intron variant
rs775607037	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, intron variant
rs786204771	CCA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe deletion, intron variant
rs1045118320	C>A	Likely-pathogenic, pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1163170578	T>G	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant, intron variant
rs1412692974	G>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

Show/Hide all(86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT035808	hsa-miR-1908-5p	CLASH	23622248
MIRT904421	hsa-miR-1206	CLIP-seq
MIRT904422	hsa-miR-1225-5p	CLIP-seq
MIRT904423	hsa-miR-22	CLIP-seq
MIRT904424	hsa-miR-3132	CLIP-seq
MIRT904425	hsa-miR-3189-3p	CLIP-seq
MIRT904426	hsa-miR-4279	CLIP-seq
MIRT904427	hsa-miR-452	CLIP-seq
MIRT904428	hsa-miR-4676-3p	CLIP-seq
MIRT904421	hsa-miR-1206	CLIP-seq
MIRT2386369	hsa-miR-4717-5p	CLIP-seq
MIRT904421	hsa-miR-1206	CLIP-seq
MIRT904422	hsa-miR-1225-5p	CLIP-seq
MIRT2507421	hsa-miR-138	CLIP-seq
MIRT2507422	hsa-miR-140-5p	CLIP-seq
MIRT2507423	hsa-miR-196a	CLIP-seq
MIRT2507424	hsa-miR-196b	CLIP-seq
MIRT2507425	hsa-miR-214	CLIP-seq
MIRT904423	hsa-miR-22	CLIP-seq
MIRT2507426	hsa-miR-3125	CLIP-seq
MIRT904424	hsa-miR-3132	CLIP-seq
MIRT904425	hsa-miR-3189-3p	CLIP-seq
MIRT2507427	hsa-miR-331-3p	CLIP-seq
MIRT2507428	hsa-miR-3619-5p	CLIP-seq
MIRT2507429	hsa-miR-3916	CLIP-seq
MIRT2507430	hsa-miR-3922-5p	CLIP-seq
MIRT2507431	hsa-miR-3928	CLIP-seq
MIRT2507432	hsa-miR-409-3p	CLIP-seq
MIRT2507433	hsa-miR-425	CLIP-seq
MIRT2507434	hsa-miR-4252	CLIP-seq
MIRT2507435	hsa-miR-4255	CLIP-seq
MIRT904426	hsa-miR-4279	CLIP-seq
MIRT2507436	hsa-miR-4281	CLIP-seq
MIRT2507437	hsa-miR-4291	CLIP-seq
MIRT2507438	hsa-miR-4292	CLIP-seq
MIRT2507439	hsa-miR-4302	CLIP-seq
MIRT2507440	hsa-miR-4327	CLIP-seq
MIRT2507441	hsa-miR-4519	CLIP-seq
MIRT904427	hsa-miR-452	CLIP-seq
MIRT2507442	hsa-miR-4646-5p	CLIP-seq
MIRT904428	hsa-miR-4676-3p	CLIP-seq
MIRT2507443	hsa-miR-4697-3p	CLIP-seq
MIRT2507444	hsa-miR-4706	CLIP-seq
MIRT2386369	hsa-miR-4717-5p	CLIP-seq
MIRT2507445	hsa-miR-4734	CLIP-seq
MIRT2507446	hsa-miR-4749-5p	CLIP-seq
MIRT2507447	hsa-miR-4753-5p	CLIP-seq
MIRT2507448	hsa-miR-512-5p	CLIP-seq
MIRT2507449	hsa-miR-548m	CLIP-seq
MIRT2507450	hsa-miR-744	CLIP-seq
MIRT2507451	hsa-miR-761	CLIP-seq
MIRT2507452	hsa-miR-922	CLIP-seq
MIRT904421	hsa-miR-1206	CLIP-seq
MIRT904422	hsa-miR-1225-5p	CLIP-seq
MIRT2507421	hsa-miR-138	CLIP-seq
MIRT2507422	hsa-miR-140-5p	CLIP-seq
MIRT2507425	hsa-miR-214	CLIP-seq
MIRT904423	hsa-miR-22	CLIP-seq
MIRT904424	hsa-miR-3132	CLIP-seq
MIRT904425	hsa-miR-3189-3p	CLIP-seq
MIRT2507427	hsa-miR-331-3p	CLIP-seq
MIRT2507428	hsa-miR-3619-5p	CLIP-seq
MIRT2507430	hsa-miR-3922-5p	CLIP-seq
MIRT2507432	hsa-miR-409-3p	CLIP-seq
MIRT2507433	hsa-miR-425	CLIP-seq
MIRT2507434	hsa-miR-4252	CLIP-seq
MIRT904426	hsa-miR-4279	CLIP-seq
MIRT2507436	hsa-miR-4281	CLIP-seq
MIRT2507437	hsa-miR-4291	CLIP-seq
MIRT2507438	hsa-miR-4292	CLIP-seq
MIRT2507439	hsa-miR-4302	CLIP-seq
MIRT2507440	hsa-miR-4327	CLIP-seq
MIRT2507441	hsa-miR-4519	CLIP-seq
MIRT904427	hsa-miR-452	CLIP-seq
MIRT2507442	hsa-miR-4646-5p	CLIP-seq
MIRT904428	hsa-miR-4676-3p	CLIP-seq
MIRT2507443	hsa-miR-4697-3p	CLIP-seq
MIRT2507444	hsa-miR-4706	CLIP-seq
MIRT2386369	hsa-miR-4717-5p	CLIP-seq
MIRT2507445	hsa-miR-4734	CLIP-seq
MIRT2507446	hsa-miR-4749-5p	CLIP-seq
MIRT2507447	hsa-miR-4753-5p	CLIP-seq
MIRT2507448	hsa-miR-512-5p	CLIP-seq
MIRT2507450	hsa-miR-744	CLIP-seq
MIRT2507451	hsa-miR-761	CLIP-seq
MIRT2507452	hsa-miR-922	CLIP-seq

Show/Hide all(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25152161, 27499296, 32296183
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	25152161

MIM	HGNC	e!Ensembl
612898	19693	ENSG00000167113

Protein

UniProt ID

Q9Y3A0

Protein name

Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial (4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase) (EC 4.1.1.130) (Coenzyme Q biosynthesis protein 4 homolog)

Protein function

Lyase that catalyzes the C1-decarboxylation of 4-hydroxy-3-methoxy-5-(all-trans-decaprenyl)benzoic acid into 2-methoxy-6-(all-trans-decaprenyl)phenol during ubiquinone biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03111, ECO:0000269|PubMed:38295803,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05019	Coq4	38 → 258	Coenzyme Q (ubiquinone) biosynthesis protein Coq4	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed ubiquitously, but at high levels in liver, lung and pancreas. {ECO:0000269|PubMed:18474229}.

Sequence

MATLLRPVLRRLCGLPGLQRPAAEMPLRARSDGAGPLYSHHLPTSPLQKGLLAAGSAAMA
LYNPYRHDMVAVLGETTGHRTLKVLRDQMRRDPEGAQILQERPRISTSTLDLGKLQSLPE
GSLGREYLRFLDVNRVSPDTRAPTRFVDDEELAYVIQRYREVHDMLHTLLGMPTNILGEI
VVKWFEAVQTGLPMCILGAFFGPIRLGAQSLQVLVSELIPWAVQNGRRAPCVLNLYYERR
WEQSLRALREELGITAPPMHVQGLA

Sequence length

265

Interactions

View interactions

	KEGG
	Ubiquinone and other terpenoid-quinone biosynthesis Metabolic pathways Biosynthesis of cofactors

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Coenzyme q10 deficiency	COENZYME Q10 DEFICIENCY, PRIMARY, 7	rs118203955, rs121918230, rs121918231, rs121918233, rs864321686, rs750710187, rs1057519348, rs1558212305, rs1577993720	25658047, 26741492, 27604308, 26185144
Encephalomyopathy-cardiomyopathy-respiratory distress syndrome	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	rs774395996, rs775607037, rs143441644, rs786204770, rs786204771, rs758522459, rs886041549, rs747779231, rs767839639, rs776825296, rs1554796655, rs1045118320, rs141303335, rs1412692974
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	18474229, 18579827, 25126048, 16116126, 24270420, 17332895, 21540551, 22368301, 25658047, 26185144, 17485248, 28540186, 21844807
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Mitochondrial Diseases	mitochondrial disease			GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Ataxia	Associate	30847826
Brain Diseases	Associate	31325447
Cardiomyopathies	Associate	31325447
Coenzyme Q10 Deficiency	Associate	18474229, 22368301, 25658047, 28472853, 31325447
Epilepsy	Associate	26795593
Intellectual Disability	Associate	28472853
Metabolic Diseases	Associate	28472853
Mitochondrial Diseases	Associate	25658047, 32907636
Mitochondrial Encephalomyopathies	Associate	22368301
Respiration Disorders	Associate	28472853
Rhabdomyolysis	Associate	28472853

COQ4 (coenzyme Q4)