COQ4 (coenzyme Q4)

Gene

• Entrez ID: 51117
• Gene name: Coenzyme Q4
• Gene symbol: COQ4
• Synonyms (NCBI Gene): CGI-92, COQ10D7, SPAX10
• Chromosome: 9
• Chromosome location: 9q34.11
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25152161, 27499296, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	27499296
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006744	Process	Ubiquinone biosynthetic process	IDA	38295803, 38425362
GO:0006744	Process	Ubiquinone biosynthetic process	IEA
GO:0006744	Process	Ubiquinone biosynthetic process	IMP	30659264, 38014483
GO:0006744	Process	Ubiquinone biosynthetic process	NAS	28927698
GO:0006744	Process	Ubiquinone biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0031314	Component	Extrinsic component of mitochondrial inner membrane	IEA
GO:0032991	Component	Protein-containing complex	IDA	25152161
GO:0110142	Component	Ubiquinone biosynthesis complex	IPI	27499296
GO:0120539	Function	4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity	IDA	38295803, 38425362
GO:0120539	Function	4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity	TAS

Other IDs

• MIM: 612898
• HGNC: 19693
• e!Ensembl: 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

Pathways

KEGG:

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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
COQ4-related disorder	Likely pathogenic; Pathogenic	rs748924643, rs143441644, rs747779231	RCV004698861 RCV003390884 RCV003409591	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic	rs2539415192	RCV003127405	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	Likely pathogenic; Pathogenic	rs1255137785, rs1440543613, rs748924643, rs909428117, rs2131235872, rs758522459, rs774395996, rs775607037, rs143441644, rs786204770, rs786204771, rs776074348, rs1352310924, rs762083094, rs1832448970, rs886041549, rs1408133351, rs1183420702, rs749504112, rs747779231, rs767839639, rs776825296, rs1554796655, rs141303335, rs1412692974, rs929713295	RCV001330901 RCV001894652 RCV001884487 RCV001970054 RCV002226815 RCV002249832 RCV000169634 RCV000169635 RCV000169636 RCV000169637 RCV000169638 RCV003093590 RCV003021899 RCV003026177 RCV003037577 RCV000258061 RCV001855066 RCV003750618 RCV003750660 RCV003874185 RCV000845241 RCV000547457 RCV000543798 RCV000551220 RCV000700362 RCV000791318 RCV000817248 RCV001374711	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia	Likely pathogenic; Pathogenic	rs143441644, rs929713295	RCV001640262 RCV001644928	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia 10, autosomal recessive	Likely pathogenic; Pathogenic	rs143441644, rs776074348, rs886041549, rs762170679, rs1232690058, rs2539410162, rs747779231, rs776825296, rs929713295	RCV005003520 RCV005045259 RCV005049510 RCV003482895 RCV003482896 RCV003482897 RCV003482255 RCV003482287 RCV003482334	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 7	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia	Ataxia	Pubtator	30847826	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	30225196		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	31325447	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	31325447		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	31325447	Associate	★☆☆☆☆ Found in Text Mining only
Coenzyme Q10 Deficiency	Coenzyme q10 deficiency	Pubtator	18474229, 22368301, 25658047, 28472853, 31325447	Associate	★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY	Coenzyme Q10 Deficiency	BEFREE	22368301, 30225196		★☆☆☆☆ Found in Text Mining only
COENZYME Q10 DEFICIENCY, PRIMARY, 7	Coenzyme Q10 Deficiency	GENOMICS_ENGLAND_DG	25658047, 26185144, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 7	Coenzyme Q10 Deficiency	UNIPROT_DG	25658047, 26741492		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 7	Coenzyme Q10 Deficiency	CLINVAR_DG	25658047, 26185144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 7	Coenzyme Q10 Deficiency	ORPHANET_DG	25658047, 26185144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COENZYME Q10 DEFICIENCY, PRIMARY, 7	Coenzyme Q10 Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16116126, 17332895, 17485248, 18474229, 18579827, 21540551, 21844807, 22368301, 24270420, 25126048, 25658047, 26185144, 28540186		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	28540186, 31325447		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	26795593	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28472853		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28472853	Associate	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	30659264		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	28472853		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28472853	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	25658047, 30659264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25658047, 32907636	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	22368301	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	26185144		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16116126, 17332895, 17485248, 18474229, 18579827, 21540551, 21844807, 22368301, 24270420, 25126048, 25658047, 26185144, 28540186		★☆☆☆☆ Found in Text Mining only
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	28472853	Associate	★☆☆☆☆ Found in Text Mining only