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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4338
Gene name	Molybdenum cofactor synthesis 2
Gene symbol	MOCS2
Synonyms (NCBI Gene)	MCBPEMOCO1MOCODBMPTS
Chromosome	5
Chromosome location	5q11.2
Summary	Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The lar

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908605	C>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs121908606	C>T	Pathogenic	Coding sequence variant, initiator codon variant, missense variant
rs121908609	T>G	Pathogenic	3 prime UTR variant, terminator codon variant, stop lost
rs398122797	TT>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs398122798	ACTG>-	Pathogenic, uncertain-significance	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs398122799	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs772575104	A>C,G	Pathogenic	Missense variant, coding sequence variant, stop gained, initiator codon variant, synonymous variant
rs780085174	C>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant

137

Show/Hide all (137)

miRTarBase ID	miRNA	Experiments	Reference
MIRT708889	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT708888	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT708887	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT708886	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT708885	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT708884	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT708883	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT708882	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT708881	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT708879	hsa-miR-3666	HITS-CLIP	19536157
MIRT708880	hsa-miR-4295	HITS-CLIP	19536157
MIRT708878	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT708877	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708876	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT708889	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT708888	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT708887	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT708886	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT708885	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT708884	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT708883	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT708882	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT708881	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT708879	hsa-miR-3666	HITS-CLIP	19536157
MIRT708880	hsa-miR-4295	HITS-CLIP	19536157
MIRT708878	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT708877	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708876	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT708889	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT708888	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT708887	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT708886	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT708885	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT708884	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT708883	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT708882	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT708881	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT708879	hsa-miR-3666	HITS-CLIP	19536157
MIRT708880	hsa-miR-4295	HITS-CLIP	19536157
MIRT708878	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT708877	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708876	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT563008	hsa-miR-551b-5p	PAR-CLIP	20371350
MIRT563007	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT563006	hsa-miR-5688	PAR-CLIP	20371350
MIRT563005	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT563004	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT563003	hsa-miR-8066	PAR-CLIP	20371350
MIRT563002	hsa-miR-8063	PAR-CLIP	20371350
MIRT563001	hsa-miR-4698	PAR-CLIP	20371350
MIRT563000	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT562999	hsa-miR-633	PAR-CLIP	20371350
MIRT562998	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT708889	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT708888	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT708887	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT708886	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT708885	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT708884	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT708883	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT708882	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT708881	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT708879	hsa-miR-3666	HITS-CLIP	19536157
MIRT708880	hsa-miR-4295	HITS-CLIP	19536157
MIRT708878	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT708877	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708876	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT708889	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT708888	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT708887	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT708886	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT708885	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT708884	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT708883	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT708882	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT708881	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT708879	hsa-miR-3666	HITS-CLIP	19536157
MIRT708880	hsa-miR-4295	HITS-CLIP	19536157
MIRT708878	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT708877	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708876	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT708889	hsa-miR-4668-3p	HITS-CLIP	19536157
MIRT708888	hsa-miR-224-5p	HITS-CLIP	19536157
MIRT708887	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT708886	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT708885	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT708884	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT708883	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT708882	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT708881	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT708879	hsa-miR-3666	HITS-CLIP	19536157
MIRT708880	hsa-miR-4295	HITS-CLIP	19536157
MIRT708878	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT708877	hsa-miR-6513-3p	HITS-CLIP	19536157
MIRT708876	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT563008	hsa-miR-551b-5p	PAR-CLIP	20371350
MIRT563007	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT563006	hsa-miR-5688	PAR-CLIP	20371350
MIRT563005	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT563004	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT563003	hsa-miR-8066	PAR-CLIP	20371350
MIRT563002	hsa-miR-8063	PAR-CLIP	20371350
MIRT563001	hsa-miR-4698	PAR-CLIP	20371350
MIRT563000	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT562999	hsa-miR-633	PAR-CLIP	20371350
MIRT562998	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT2044323	hsa-miR-145	CLIP-seq
MIRT2044324	hsa-miR-200b	CLIP-seq
MIRT2044325	hsa-miR-200c	CLIP-seq
MIRT2044326	hsa-miR-204	CLIP-seq
MIRT2044327	hsa-miR-211	CLIP-seq
MIRT2044328	hsa-miR-2355-3p	CLIP-seq
MIRT2044329	hsa-miR-3156-3p	CLIP-seq
MIRT2044330	hsa-miR-3180-5p	CLIP-seq
MIRT2044331	hsa-miR-374c	CLIP-seq
MIRT2044332	hsa-miR-3923	CLIP-seq
MIRT2044333	hsa-miR-4277	CLIP-seq
MIRT2044334	hsa-miR-4287	CLIP-seq
MIRT2044335	hsa-miR-429	CLIP-seq
MIRT2044336	hsa-miR-4301	CLIP-seq
MIRT2044337	hsa-miR-4469	CLIP-seq
MIRT2044338	hsa-miR-4646-3p	CLIP-seq
MIRT2044339	hsa-miR-4685-3p	CLIP-seq
MIRT2044340	hsa-miR-4727-5p	CLIP-seq
MIRT2044341	hsa-miR-4769-3p	CLIP-seq
MIRT2044342	hsa-miR-543	CLIP-seq
MIRT2044343	hsa-miR-655	CLIP-seq
MIRT2273646	hsa-miR-224	CLIP-seq
MIRT2273647	hsa-miR-4420	CLIP-seq
MIRT2273646	hsa-miR-224	CLIP-seq
MIRT2390998	hsa-miR-3150b-3p	CLIP-seq
MIRT2273647	hsa-miR-4420	CLIP-seq
MIRT2390999	hsa-miR-4689	CLIP-seq
MIRT2391000	hsa-miR-4777-3p	CLIP-seq
MIRT2391001	hsa-miR-4779	CLIP-seq
MIRT2391002	hsa-miR-4784	CLIP-seq
MIRT2391003	hsa-miR-875-5p	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	12732628, 16021469, 25709896
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	15073332
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IDA	12732628, 15073332, 16021469, 25709896
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IEA
GO:0006777	Process	Mo-molybdopterin cofactor biosynthetic process	IMP	10053004
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0030366	Function	Molybdopterin synthase activity	IDA	12732628, 15073332
GO:0030366	Function	Molybdopterin synthase activity	IDA	25709896
GO:0030366	Function	Molybdopterin synthase activity	IEA
GO:0030366	Function	Molybdopterin synthase activity	TAS
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	IEA
GO:0032324	Process	Molybdopterin cofactor biosynthetic process	TAS
GO:1990140	Component	Molybdopterin synthase complex	IDA	25709896
GO:1990140	Component	Molybdopterin synthase complex	IEA
GO:1990140	Component	Molybdopterin synthase complex	IPI	12732628, 16021469

MIM	HGNC	e!Ensembl
603708	7193	ENSG00000164172

O96007

Protein name

Molybdopterin synthase catalytic subunit (EC 2.8.1.12) (MOCO1-B) (Molybdenum cofactor synthesis protein 2 large subunit) (Molybdenum cofactor synthesis protein 2B) (MOCS2B) (Molybdopterin-synthase large subunit) (MPT synthase large subunit)

Protein function

Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a

PDB

4AP8 , 5MPO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02391	MoaE	49 → 161		Family

Tissue specificity

TISSUE SPECIFICITY: Highest levels are found in heart and skeletal muscle. Lower levels are present in brain, kidney and pancreas. Very low levels are found in lung and peripheral blood leukocytes. {ECO:0000269|PubMed:10053003}.

Sequence

MSSLEISSSCFSLETKLPLSPPLVEDSAFEPSRKDMDEVEEKSKDVINFTAEKLSVDEVS
QLVISPLCGAISLFVGTTRNNFEGKKVISLEYEAYLPMAENEVRKICSDIRQKWPVKHIA
VFHRLGLVPVSEASIIIAVSSAHRAASLEAVSYAIDTLKAKVPIWKKEIYEESSTWKGNK
ECFWASNS

Sequence length

188

O96033

Protein name

Molybdopterin synthase sulfur carrier subunit (MOCO1-A) (Molybdenum cofactor synthesis protein 2 small subunit) (Molybdenum cofactor synthesis protein 2A) (MOCS2A) (Molybdopterin-synthase small subunit) (Sulfur carrier protein MOCS2A)

Protein function

Acts as a sulfur carrier required for molybdopterin biosynthesis. Component of the molybdopterin synthase complex that catalyzes the conversion of precursor Z into molybdopterin by mediating the incorporation of 2 sulfur atoms into precursor Z t

PDB

5MPO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02597	ThiS	9 → 88	ThiS family	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highest levels are found in heart and skeletal muscle. Lower levels are present in brain, kidney and pancreas. Very low levels are found in lung and peripheral blood leukocytes. {ECO:0000269|PubMed:10053003, ECO:00002

Sequence

MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVR
QEYVELGDQLLVLQPGDEIAVIPPISGG

Sequence length

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors Sulfur relay system		Molybdenum cofactor biosynthesis

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic	rs398122797	RCV001813958	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined molybdoflavoprotein enzyme deficiency	Pathogenic; Likely pathogenic	rs748049681, rs754015492, rs1740933642, rs1740904060	RCV004690120 RCV005406581 RCV004700890 RCV004701814	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	Pathogenic	rs121908607	RCV000721967	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Pathogenic; Likely pathogenic	rs748049681, rs2112090886, rs1561179103, rs754015492, rs753816420, rs398122797, rs121908605, rs398122799, rs121908606, rs121908607, rs121908608, rs121908609, rs397518417, rs2478613193, rs554491390 View all (6 more)	RCV001619770 RCV001619771 RCV005032009 RCV005034647 RCV005034723 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

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.
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOPROTEIN IA DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOCS2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21151896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	30900395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	22759696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	BEFREE	17158010, 22759696, 27289259, 31201073		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined molybdoflavoprotein enzyme deficiency	Combined molybdoflavoprotein enzyme deficiency	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectopia Lentis	Ectopia Lentis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	17158010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group A	Molybdenum Cofactor Deficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group A	Molybdenum Cofactor Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum Cofactor Deficiency	UNIPROT_DG	10053004, 11746050, 12732628, 16021469, 16737835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum Cofactor Deficiency	CLINVAR_DG	10053004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum Cofactor Deficiency	GENOMICS_ENGLAND_DG	16737835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum Cofactor Deficiency	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum Cofactor Deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	Sulfite Oxidase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Xanthinuria	Xanthinuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

MOCS2 (molybdenum cofactor synthesis 2)