MOCS2
Molybdenum Cofactor Synthesis 2
Gene Information Card
| Symbol | MOCS2 |
|---|---|
| Full Name | Molybdenum Cofactor Synthesis 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 4338 ncbi.nlm.nih.gov/gene/4338 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | O96007 |
| OMIM ID | 603708 |
| HGNC ID | 7194 |
| Aliases | MCBPE, MOCS2A, MOCS2B, MPT synthase |
Description
MOCS2 encodes the molybdopterin synthase large subunit, which is essential for the biosynthesis of the molybdenum cofactor (MoCo). MoCo is required for the activity of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Mutations in MOCS2 cause molybdenum cofactor deficiency type B, a severe autosomal recessive disorder characterized by neonatal seizures, neurological deterioration, and early death.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Molybdenum cofactor deficiency type B | Loss-of-function mutations in MOCS2 impair molybdopterin synthase activity, preventing MoCo synthesis and leading to accumulation of toxic sulfite and xanthine. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 5.4 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.220C>T (p.Arg74*) | Nonsense | Rare | Premature stop, loss of function |
| c.377G>A (p.Gly126Asp) | Missense | Rare | Impaired protein function |
Mutation functional classification
Loss of Function (LOF)
Most MOCS2 mutations are loss-of-function, leading to molybdenum cofactor deficiency type B.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • molybdopterin synthase activity (GO:0030366) | • molybdenum cofactor biosynthetic process (GO:0006777) |
| • protein heterodimerization activity (GO:0046982) |
Pathways
• Molybdenum cofactor biosynthesis (KEGG: map00450)
• Metabolic pathways (KEGG: map01100)
Protein Summary
MOCS2 encodes the large subunit of molybdopterin synthase, which forms a heterotetramer with the small subunit (MOCS2A). This enzyme catalyzes the conversion of precursor Z to molybdopterin, a key step in molybdenum cofactor biosynthesis. The protein is localized in the cytoplasm and is ubiquitously expressed, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MOCS2 Knockout HEK293 Cell Line | EDJ-KQ5232 | Human | 4338 | Details Get a Quote |
| MOCS2 Knockout HCT 116 Cell Line | EDJ-KQ27020 | Human | 4338 | Details Get a Quote |
| MOCS2 Knockout A-549 Cell Line | EDJ-KQ28257 | Human | 4338 | Details Get a Quote |
| MOCS2 Knockout HeLa Cell Line | EDJ-KQ28258 | Human | 4338 | Details Get a Quote |
