MOCS2 (molybdenum cofactor synthesis 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4338
Gene name Gene Name - the full gene name approved by the HGNC.
Molybdenum cofactor synthesis 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MOCS2
Synonyms (NCBI Gene) Gene synonyms aliases
MCBPE, MOCO1, MOCODB, MPTS
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603708 7193 ENSG00000164172
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
UniProt ID 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
Sequence length 88
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Folate biosynthesis
Metabolic pathways
Biosynthesis of cofactors
Sulfur relay system 		  Molybdenum cofactor biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Sulfite Oxidase Deficiency sulfite oxidase deficiency due to molybdenum cofactor deficiency type b, sulfite oxidase deficiency due to molybdenum cofactor deficiency type a rs398122797, rs1273139451, rs121908605, rs398122799, rs121908606, rs121908607, rs121908608, rs121908609, rs397518417, rs1554028123, rs772575104 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Combined molybdoflavoprotein enzyme deficiency combined molybdoflavoprotein enzyme deficiency N/A N/A ClinVar
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 21151896
Basal Ganglia Diseases Associate 30900395
Infantile Epileptic Dyskinetic Encephalopathy Associate 36980992
Molybdenum cofactor deficiency Associate 10053004, 20573177, 27289259, 30900395, 31477743
Molybdenum Cofactor Deficiency Complementation Group B Inhibit 33502714
Molybdenum Cofactor Deficiency Complementation Group B Associate 36980992