MOCS2 - molybdenum cofactor synthesis 2 Gene

Also Known as MPTS; MCBPE; MOCO1; MOCODB

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 4338

About MOCS2

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:53,095,679-53,109,757 (from NCBI)

This gene has 10 transcripts (splice variants), 210 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 14.3), adrenal (RPKM 13.2) and 25 other tissues.

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 large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. They are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]

MOCS2 Products (2)

mRNA	Protein	Name
NM_004531.5	NP_004522.1	molybdopterin synthase catalytic subunit large subunit MOCS2B
NM_176806.4	NP_789776.1	molybdopterin synthase sulfur carrier subunit small subunit MOCS2A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
contributes to molybdopterin synthase activity	IDA IDA: Inferred from direct assay	12732628	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12732628	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in Mo-molybdopterin cofactor biosynthetic process	IDA IDA: Inferred from direct assay	12732628	GOA
involved in Mo-molybdopterin cofactor biosynthetic process	IMP IMP: Inferred from mutant phenotype	10053004	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cytosol	IDA IDA: Inferred from direct assay	15073332	GOA
part of molybdopterin synthase complex	IPI IPI: Inferred from physical interaction	12732628	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MOCS2 Protein Structure

MoaE

0
100
188 a.a.

Protein Preferred Names	Protein Names
molybdopterin synthase catalytic subunit molybdopterin synthase sulfur carrier subunit	molybdenum cofactor biosynthesis protein E

Protein Preferred Names

Protein Names

molybdopterin synthase catalytic subunit

molybdopterin synthase sulfur carrier subunit

molybdenum cofactor biosynthesis protein E

MOCS2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	MOCS2	O96007	MOCS2	Homo sapiens	O96033	GMS	16021469
Intra	MOCS2	O96007	MOCS2	Homo sapiens	O96033	GMS	12732628

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Molybdenum Cofactor Deficiency, Complementation Group B	MOCODB Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B Molybdenum Cofactor Deficiency B Molybdenum Cofactor Deficiency Type B Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B Mocod Type B Molybdenum Cofactor Deficiency Complementation Group B Deficiency, Molybdenum Cofactor, Complementation Group B
Molybdenum Cofactor Deficiency, Complementation Group A	MOCODA Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A Molybdenum Cofactor Deficiency A Molybdenum Cofactor Deficiency Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A Mocod Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of Molybdenum Cofactor Deficiency Complementation Group A Molybdenum Cofactor Deficiency, Type A Deficiency, Molybdenum Cofactor, Complementation Group A
Molybdenum Cofactor Deficiency	Combined Molybdoflavoprotein Enzyme Deficiency Mocod Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency Deficiency Of Molybdenum Cofactor Deficiency, Molybdenum Cofactor
Sulfite Oxidase Deficiency, Isolated	Sulfite Oxidase Deficiency Sulfocysteinuria Isolated Sulfite Oxidase Deficiency ISOD Encephalopathy Due To Sulfite Oxidase Deficiency
Molybdenum Cofactor Deficiency, Complementation Group C	MOCODC Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C Molybdenum Cofactor Deficiency C Molybdenum Cofactor Deficiency Type C Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C Mocod Type C Molybdenum Cofactor Deficiency Complementation Group C Deficiency, Molybdenum Cofactor, Complementation Group C
Encephalomalacia
Epilepsy, Early-Onset, Vitamin B6-Dependent	EPVB6D Early-Onset Vitamin B6-Dependent Epilepsy
Combined Oxidative Phosphorylation Deficiency 23	COXPD23 Combined Oxidative Phosphorylation Defect Type 23 Oxidative Phosphorylation Deficiency, Combined, Type 23
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
D-Glyceric Aciduria	D-Glyceric Acidemia D-Glycericacidemia Glycerate Kinase Deficiency D-Glycerate Kinase Deficiency Non Ketotic Hyperglycinemia Syndrome Deficiency Of Glycerate Kinase Hyperglycinemia, Non-Ketotic D-GA
Hyperprolinemia, Type Ii	Hyperprolinemia Type 2 HYRPRO2 Hpii 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia Type Ii 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency Type 2 Hyperprolinemia Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia 2
Xanthinuria	Xanthine Dehydrogenase Deficiency Xanthine Oxidase Deficiency Hereditary Xanthinuria Xanthic Urolithiasis Xanthine Stone Disease Xanthinuria, Type I Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xdh Deficiency Classic Xanthinuria Xanthinuria, Type Ii Classical Xanthinuria Xanthine Calculus
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency Gamt Deficiency Creatine Deficiency Syndrome Due To Gamt Deficiency Deficiency Of Guanidinoacetate Methyltransferase CCDS2 Guanidinoacetate Methyltransferase Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 2 Language Development Disorders
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Hyperekplexia	Hereditary Hyperekplexia Kok Disease Congenital Stiff Man Syndrome Familial Startle Disease Sthe Stiff-Baby Syndrome Hereditary Hyperexplexia Startle Disease Exaggerated Startle Reaction Hyperexplexia Hereditary Startle Disease, Familial Startle Reaction, Exaggerated Stiff-Man Syndrome, Congenital Stiff-Person Syndrome, Congenital Congenital Stiff-Man Syndrome Congenital Stiff-Person Syndrome Familial Hyperekplexia Startle Syndrome Stiff Baby Syndrome Hyperekplexia, Hereditary Stiff-Person Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS08581	MOCS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Rattus norvegicus	MOCS2	RGD	RGD:1359477
Macaca mulatta	MOCS2	VGNC	VGNC:84446
Mus musculus	MOCS2	MGD	MGI:1336894
Canis familiaris	MOCS2	VGNC	VGNC:43306
Bos taurus	MOCS2	VGNC	VGNC:31548
Felis catus	MOCS2	VGNC	VGNC:68297
Others	MOCS2	NCBI