• Gene id: 4338

Gene Summary

• Gene Symbol: MOCS2   Gene   UCSC   Ensembl
• Aliases: MCBPE, MOCO1, MOCODB, MPTS
• Gene name: molybdenum cofactor synthesis 2
• Alternate names: molybdopterin synthase catalytic subunit, molybdopterin synthase sulfur carrier subunit, molybdenum cofactor biosynthesis protein E,
• Gene location: 5q11.2 (53109756: 53095678)     Exons: 7     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 603708

Protein Summary

• Protein general information: O96007  
  • 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)
  • Length: 188  
  • Mass: 20944
  • 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
• Sequence:

  MSSLEISSSCFSLETKLPLSPPLVEDSAFEPSRKDMDEVEEKSKDVINFTAEKLSVDEVSQLVISPLCGAISLFV
  GTTRNNFEGKKVISLEYEAYLPMAENEVRKICSDIRQKWPVKHIAVFHRLGLVPVSEASIIIAVSSAHRAASLEA
  VSYAIDTLKAKVPIWKKEIYEESSTWKGNKECFWASNS

• Structural information:
  • Interpro: IPR036563  IPR028888  IPR003448  
  • CDD: cd00756
  • PDB: 4AP8 5MPO
  • PDBsum: 4AP8 5MPO
  • STRING: ENSP00000380157
• Other Databases: GeneCards:  MOCS2  Malacards:  MOCS2
• Protein general information: O96033  
  
  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)
  
  Length: 88  Mass: 9755
  
  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
• Sequence: MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQLLVLQP
  GDEIAVIPPISGG
• Structural information:

  Interpro:	IPR012675  IPR028887  IPR016155  IPR003749
  PDB:	5MPO
  PDBsum:	5MPO
  MINT:

• Other Databases: GeneCards:  MOCS2  Malacards:  MOCS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0019008	molybdopterin synthase complex	IPI	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030366	molybdopterin synthase activity	IEA	molecular function
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0019008	molybdopterin synthase complex	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0030366	molybdopterin synthase activity	IEA	molecular function
GO:0032324	molybdopterin cofactor biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0030366	molybdopterin synthase activity	TAS	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0030366	molybdopterin synthase activity	IEA	molecular function
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IEA	biological process
GO:0019008	molybdopterin synthase complex	IEA	cellular component
GO:0030366	molybdopterin synthase activity	IDA	molecular function
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IDA	biological process
GO:0006777	Mo-molybdopterin cofactor biosynthetic process	IDA	biological process
GO:0030366	molybdopterin synthase activity	IDA	molecular function
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00790	Folate biosynthesis
hsa04122	Sulfur relay system

Diseases

Associated diseases	References
Molybdenum cofactor deficiency	KEGG:H02311
Molybdenum cofactor deficiency	KEGG:H02311
Molybdenum cofactor deficiency type B	PMID:10053004
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881