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Aliases for MOCS2 Gene

Aliases for MOCS2 Gene

  • Molybdenum Cofactor Synthesis 2 2 3 5
  • MOCS2A 3 4
  • MOCS2B 3 4
  • MCBPE 3 4
  • MOCO1 3 4
  • Molybdenum Cofactor Synthesis Protein 2 Large Subunit 4
  • Molybdenum Cofactor Synthesis Protein 2 Small Subunit 4
  • Molybdopterin Synthase Small And Large Subunit 3
  • Molybdenum Cofactor Biosynthesis Protein E 3
  • Molybdenum Cofactor Synthesis Protein 2A 4
  • Molybdenum Cofactor Synthesis Protein 2B 4
  • Molybdopterin-Synthase Large Subunit 4
  • Molybdopterin-Synthase Small Subunit 4
  • Sulfur Carrier Protein MOCS2A 4
  • MPT Synthase Large Subunit 4
  • EC 2.8.1.12 4
  • MOCO1-A 4
  • MOCO1-B 4
  • MOCODB 3
  • MPTS 3

External Ids for MOCS2 Gene

Previous GeneCards Identifiers for MOCS2 Gene

  • GC05M052558
  • GC05M053821
  • GC05M052364
  • GC05M052409
  • GC05M052429
  • GC05M049365

Summaries for MOCS2 Gene

Entrez Gene Summary for MOCS2 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 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]

GeneCards Summary for MOCS2 Gene

MOCS2 (Molybdenum Cofactor Synthesis 2) is a Protein Coding gene. Diseases associated with MOCS2 include molybdenum cofactor deficiency b and sulfite oxidase deficiency due to molybdenum cofactor deficiency type b. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include identical protein binding and molybdopterin synthase activity.

UniProtKB/Swiss-Prot for MOCS2 Gene

  • 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 to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin.

  • 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 dithiolene group.

Gene Wiki entry for MOCS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MOCS2 Gene

Genomics for MOCS2 Gene

Regulatory Elements for MOCS2 Gene

Promoters for MOCS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MOCS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MOCS2 Gene

Chromosome:
5
Start:
53,095,679 bp from pter
End:
53,110,063 bp from pter
Size:
14,385 bases
Orientation:
Minus strand

Genomic View for MOCS2 Gene

Genes around MOCS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MOCS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MOCS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MOCS2 Gene

Proteins for MOCS2 Gene

  • Protein details for MOCS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96007-MOC2B_HUMAN
    Recommended name:
    Molybdopterin synthase catalytic subunit
    Protein Accession:
    O96007
    Secondary Accessions:
    • Q6IAI3

    Protein attributes for MOCS2 Gene

    Size:
    188 amino acids
    Molecular mass:
    20944 Da
    Quaternary structure:
    • Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the small subunit (MOCS2A) from an overlapping reading frame. Expression of these 2 proteins are related since a mutation that removes the start codon of the small subunit (MOCS2A) also impairs expression of the large subunit (MOCS2B).

    Three dimensional structures from OCA and Proteopedia for MOCS2 Gene

  • Protein details for MOCS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96033-MOC2A_HUMAN
    Recommended name:
    Molybdopterin synthase sulfur carrier subunit
    Protein Accession:
    O96033

    Protein attributes for MOCS2 Gene

    Size:
    88 amino acids
    Molecular mass:
    9755 Da
    Quaternary structure:
    • Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the large subunit (MOCS2B) from an overlapping reading frame. Expression of these 2 proteins are related since a mutation that removes the start codon of the small subunit (MOCS2A) also impairs expression of the large subunit (MOCS2B).

neXtProt entry for MOCS2 Gene

Proteomics data for MOCS2 Gene at MOPED

Post-translational modifications for MOCS2 Gene

  • C-terminal thiocarboxylation occurs in 2 steps, it is first acyl-adenylated (-COAMP) via the hesA/moeB/thiF part of MOCS3, then thiocarboxylated (-COSH) via the rhodanese domain of MOCS3.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for MOCS2 Gene

Domains & Families for MOCS2 Gene

Suggested Antigen Peptide Sequences for MOCS2 Gene

Graphical View of Domain Structure for InterPro Entry

O96033

UniProtKB/Swiss-Prot:

MOC2A_HUMAN :
  • Belongs to the MoaD family. MOCS2A subfamily.
Family:
  • Belongs to the MoaD family. MOCS2A subfamily.
  • Belongs to the MoaE family. MOCS2B subfamily.
genes like me logo Genes that share domains with MOCS2: view

No data available for Gene Families for MOCS2 Gene

Function for MOCS2 Gene

Molecular function for MOCS2 Gene

GENATLAS Biochemistry:
molybdopterine synthase,converting precursor Z (see MOCS1) to molybdopterine,predominantly expressed in heart and skeletal muscle,catalyzing the second step of the molybdenum cofactor synthesis,including the small MOCS2A and the large MOCS2B subunits,transcript by a single bicistronic mRNA with overlapping reading frames
UniProtKB/Swiss-Prot 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 to generate a dithiolene group. In the complex, serves as sulfur donor by being thiocarboxylated (-COSH) at its C-terminus by MOCS3. After interaction with MOCS2B, the sulfur is then transferred to precursor Z to form molybdopterin.
UniProtKB/Swiss-Prot CatalyticActivity:
Cyclic pyranopterin phosphate + 2 [molybdopterin-synthase sulfur-carrier protein]-Gly-NH-CH(2)-C(O)SH + H(2)O = molybdopterin + 2 [molybdopterin-synthase sulfur-carrier protein].
UniProtKB/Swiss-Prot 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 dithiolene group.

Enzyme Numbers (IUBMB) for MOCS2 Gene

genes like me logo Genes that share phenotypes with MOCS2: view

Human Phenotype Ontology for MOCS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MOCS2 Gene

MGI Knock Outs for MOCS2:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for MOCS2 Gene

Localization for MOCS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MOCS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MOCS2 Gene COMPARTMENTS Subcellular localization image for MOCS2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 4
mitochondrion 2
peroxisome 2
endoplasmic reticulum 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MOCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019008 molybdopterin synthase complex IEA,NAS 9889283
genes like me logo Genes that share ontologies with MOCS2: view

Pathways & Interactions for MOCS2 Gene

genes like me logo Genes that share pathways with MOCS2: view

Pathways by source for MOCS2 Gene

UniProtKB/Swiss-Prot O96033-MOC2A_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.

Interacting Proteins for MOCS2 Gene

Gene Ontology (GO) - Biological Process for MOCS2 Gene

None

No data available for SIGNOR curated interactions for MOCS2 Gene

Drugs & Compounds for MOCS2 Gene

(1) Drugs for MOCS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(7) Additional Compounds for MOCS2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
molybdopterin
  • MoCo
  • Molybdenum cofactor
  • Molybdenum enzyme molybdenum cofactor
  • Molybdoenzyme molybdenum-containing cofactor
  • Nitrate reductase molybdenum cofactor
73508-07-3
Cyclic pyranopterin monophosphate
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with MOCS2: view

Transcripts for MOCS2 Gene

Unigene Clusters for MOCS2 Gene

Molybdenum cofactor synthesis 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MOCS2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: - -
SP2: -
SP3: - - - -
SP4:
SP5:

Relevant External Links for MOCS2 Gene

GeneLoc Exon Structure for
MOCS2
ECgene alternative splicing isoforms for
MOCS2

Expression for MOCS2 Gene

mRNA expression in normal human tissues for MOCS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MOCS2 Gene

This gene is overexpressed in Ovary (10.1), Oral epithelium (7.1), and Plasma (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MOCS2 Gene



SOURCE GeneReport for Unigene cluster for MOCS2 Gene Hs.163645

mRNA Expression by UniProt/SwissProt for MOCS2 Gene

O96007-MOC2B_HUMAN
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.
genes like me logo Genes that share expression patterns with MOCS2: view

Protein tissue co-expression partners for MOCS2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MOCS2 Gene

Orthologs for MOCS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MOCS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MOCS2 35
  • 99.65 (n)
  • 99.47 (a)
MOCS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MOCS2 36
  • 87 (a)
OneToOne
MOCS2 35
  • 90.2 (n)
  • 87.17 (a)
dog
(Canis familiaris)
Mammalia MOCS2 35
  • 89.3 (n)
  • 86.63 (a)
MOCS2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mocs2 36
  • 82 (a)
OneToOne
Mocs2 16
Mocs2 35
  • 85.03 (n)
  • 83.42 (a)
oppossum
(Monodelphis domestica)
Mammalia MOCS2 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MOCS2 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mocs2 35
  • 84.67 (n)
  • 85.03 (a)
chicken
(Gallus gallus)
Aves MOCS2 36
  • 72 (a)
OneToOne
MOCS2 35
  • 72.15 (n)
  • 73.03 (a)
lizard
(Anolis carolinensis)
Reptilia MOCS2 36
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mocs2 35
  • 69.7 (n)
  • 64.39 (a)
Str.7298 35
zebrafish
(Danio rerio)
Actinopterygii Dr.16660 35
mocs2 35
  • 61.94 (n)
  • 63.51 (a)
mocs2 36
  • 59 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta MOC2B_ANOGA 35
  • 52.96 (n)
  • 54.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Mocs2 36
  • 22 (a)
OneToOne
CG10238 37
  • 56 (a)
Mocs2 35
  • 55.72 (n)
  • 57.66 (a)
worm
(Caenorhabditis elegans)
Secernentea T27A3.6 36
  • 20 (a)
OneToOne
T27A3.6 35
  • 50.7 (n)
  • 47.18 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G43760 35
  • 54.11 (n)
  • 52.17 (a)
rice
(Oryza sativa)
Liliopsida Os02g0140300 35
  • 44.6 (n)
  • 42.25 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03170 35
  • 46.42 (n)
  • 43.7 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4481 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3820 36
  • 52 (a)
OneToOne
Species with no ortholog for MOCS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MOCS2 Gene

ENSEMBL:
Gene Tree for MOCS2 (if available)
TreeFam:
Gene Tree for MOCS2 (if available)

Paralogs for MOCS2 Gene

No data available for Paralogs for MOCS2 Gene

Variants for MOCS2 Gene

Sequence variations from dbSNP and Humsavar for MOCS2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_012765 Molybdenum cofactor deficiency, complementation group B (MOCODB)
rs2233213 - 53,102,175(-) ACTTT(A/G)CTGCC reference, missense, utr-variant-3-prime
rs2233215 - 53,101,507(-) AAGGG(A/G)CTACA reference, missense, utr-variant-3-prime
rs2233218 - 53,101,369(-) TGTTC(C/T)ATAGA reference, missense, utr-variant-3-prime
rs2233221 - 53,098,609(-) ATCCA(A/G)CAGTT reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MOCS2 Gene

Variant ID Type Subtype PubMed ID
nsv830296 CNV Gain 17160897
nsv442948 CNV CNV 18776908

Variation tolerance for MOCS2 Gene

Residual Variation Intolerance Score: 77.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MOCS2 Gene

HapMap Linkage Disequilibrium report
MOCS2
Human Gene Mutation Database (HGMD)
MOCS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MOCS2 Gene

Disorders for MOCS2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MOCS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
molybdenum cofactor deficiency b
  • molybdenum cofactor deficiency, complementation group b
sulfite oxidase deficiency due to molybdenum cofactor deficiency type b
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b
molybdenum cofactor deficiency
  • combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase
immunodeficiency due to purine nucleoside phosphorylase deficiency
  • purine nucleoside phosphorylase deficiency
hereditary persistence of alpha-fetoprotein
  • alpha-fetoprotein, hereditary persistence
- elite association - COSMIC cancer census association via MalaCards
Search MOCS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MOC2A_HUMAN
  • Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]: An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. {ECO:0000269 PubMed:10053004, ECO:0000269 PubMed:11746050, ECO:0000269 PubMed:16021469, ECO:0000269 PubMed:16737835}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]: An autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood. {ECO:0000269 PubMed:10053004, ECO:0000269 PubMed:16021469, ECO:0000269 PubMed:16737835}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MOCS2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MOCS2
genes like me logo Genes that share disorders with MOCS2: view

No data available for Genatlas for MOCS2 Gene

Publications for MOCS2 Gene

  1. The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames. (PMID: 9889283) Sloan J. … Unkles S.E. (Nucleic Acids Res. 1999) 2 3 4 23 67
  2. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (PMID: 10053004) Reiss J. … Zabot M.-T. (Am. J. Hum. Genet. 1999) 2 3 23
  3. The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins. (PMID: 18491921) Schmitz J. … Leimkuehler S. (Biochemistry 2008) 3 23
  4. A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis. (PMID: 18650437) Marelja Z. … Leimkuehler S. (J. Biol. Chem. 2008) 3 23
  5. A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. (PMID: 16737835) Hahnewald R. … Reiss J. (Mol. Genet. Metab. 2006) 3 23

Products for MOCS2 Gene

Sources for MOCS2 Gene

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