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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MOCS2 Gene

protein-coding   GIFtS: 59
GCID: GC05M052429

molybdenum cofactor synthesis 2

 Explore 11 diseases affiliated with
MOCS2 via our new
 Human Malady Compendium 
Biological research products
for MOCS2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Molybdenum Cofactor Synthesis 21 2     MOCO1-A2 3
MOCO11 2 3     MOCO1-B2 3
Molybdenum Cofactor Synthesis Protein 2 Large Subunit2 3     MOCS2A2 3
Molybdenum Cofactor Synthesis Protein 2 Small Subunit2 3     MOCS2B2 3
Molybdenum Cofactor Synthesis Protein 2A2 3     MPT Synthase Large Subunit2 3
Molybdenum Cofactor Synthesis Protein 2B2 3     MPTS2 5
Molybdopterin-Synthase Large Subunit2 3     Molybdenum Cofactor Biosynthesis Protein E2
Molybdopterin-Synthase Small Subunit2 3     Molybdopterin Synthase Catalytic Subunit2
Sulfur Carrier Protein MOCS2A2 3     Molybdopterin Synthase Sulfur Carrier Subunit2
MCBPE2 3     EC 2.8.1.123

External Ids:    HGNC: 71931   Entrez Gene: 43382   Ensembl: ENSG000001641727   OMIM: 6037085   UniProtKB: O960333   
UniProtKB: O960073   

Export aliases for MOCS2 gene to outside databases

Previous GC identifers: GC05M052558 GC05M053821 GC05M052364 GC05M052409 GC05M049365


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MOCS2:
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)

UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007
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

Gene Wiki entry for MOCS2


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MOCS2 gene promoter:
         S8   HOXA3   AML1a   HNF-1   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMOCS2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MOCS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MOCS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11   Ensembl cytogenetic band:  5q11.2   HGNC cytogenetic band: 5q11

MOCS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MOCS2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M052429:  view genomic region     (about GC identifiers)

Start:
52,391,509 bp from pter      End:
52,405,893 bp from pter
Size:
14,385 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MOC2A_HUMAN, O96033 (See protein sequence)
Recommended Name: Molybdopterin synthase sulfur carrier subunit  
Size: 88 amino acids; 9755 Da
Subunit: Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits (By similarity)
Subcellular location: Cytoplasm, cytosol
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)

UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007 (See protein sequence)

Recommended Name: Molybdopterin synthase catalytic subunit  
Size: 188 amino acids; 20944 Da
Subunit: Heterotetramer; composed of 2 small (MOCS2A) and 2 large (MOCS2B) subunits (By similarity)
Subcellular location: Cytoplasm, cytosol
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)
1 PDB 3D structure from and Proteopedia for MOCS2:
4AP8 (3D)    
Secondary accessions: Q6IAI3

Explore the universe of human proteins at neXtProt for MOCS2: NX_O96007

Post-translational modifications:

  • 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 MOCS31
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O96007

  • MOCS2 Protein expression data from MOPED and PaxDb:    About this image 
    MOCS2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004522.1  NP_789776.1  

    ENSEMBL proteins: 
     ENSP00000355160   ENSP00000380157   ENSP00000411022   ENSP00000424267   ENSP00000426274  
     ENSP00000462870   ENSP00000464663   ENSP00000435326  
    Reactome Protein details: O96007 O96033
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    ProSpec Recombinant Protein for MOCS2
    Uscn Proteins for MOCS2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0019008molybdopterin synthase complex NAS9889283

    MOCS2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MOCS2 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR003448 Mopterin_biosynth_MoaE
     IPR010034 Mopterin_su_1
     IPR016155 Mopterin_synth/thiamin_S_b
     IPR012675 Beta-grasp_dom
     IPR003749 ThiS/MoaD

    Graphical View of Domain Structure for InterPro Entry O96033
    Graphical View of Domain Structure for InterPro Entry O96007

    ProtoNet protein and cluster: O96033

    1 Blocks protein family: IPB003749 ThiamineS

    UniProtKB/Swiss-Prot: MOC2A_HUMAN, O96033
    Similarity: Belongs to the moaD family. MOCS2A subfamily

    UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007
    Similarity: Belongs to the MoaE family. MOCS2B subfamily


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MOC2A_HUMAN, O96033
    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: MOC2B_HUMAN, O96007
    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
    Catalytic activity: Cyclic pyranopterin monophosphate + 2 [molybdopterin-synthase sulfur-carrier
    protein]-Gly-NH-CH(2)-C(O)SH + H(2)O = molybdopterin + 2 [molybdopterin-synthase sulfur-carrier protein]

         Genatlas biochemistry entry for MOCS2:
    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

         Enzyme Number (IUBMB): EC 2.8.1.121

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0016740transferase activity IEA--
    GO:0030366Mo-molybdopterin synthase activity TAS--
    GO:0042802identical protein binding IEA--
         
    MOCS2 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Molybdenum cofactor biosynthesis
    Molybdenum cofactor biosynthesis1.00
    Sulfur relay system0.33
    molybdenum cofactor biosynthesis0.67
    2Vitamin B5 (pantothenate) metabolism
    Metabolism of vitamins and cofactors0.21
    Metabolism of water-soluble vitamins and cofactors0.21
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Folate biosynthesis
    Folate biosynthesis1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for MOCS2 
        molybdenum cofactor biosynthesis

    4        Reactome Pathways for MOCS2
        Molybdenum cofactor biosynthesis
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    3         Kegg Pathways  (Kegg details for MOCS2):
        Folate biosynthesis
    Metabolic pathways
    Sulfur relay system

    UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007
    Pathway: Cofactor biosynthesis; molybdopterin biosynthesis
    Pathway: Cofactor biosynthesis; molybdopterin biosynthesis


    MOCS2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MOCS2

    5/6 Interacting proteins for MOCS2 (O960072, 3 O960332, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABCF3Q9NUQ82MINT-65156
    RPL9P329692MINT-63672
    RPL9P7P329692MINT-63672
    RPL9P8P329692MINT-63672
    RPL9P9P329692MINT-63672
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006777Mo-molybdopterin cofactor biosynthetic process IMP10053004
    GO:0032324molybdopterin cofactor biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    MOCS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MOCS2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for MOCS2

    1 HMDB Compound for MOCS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    MolybdopterinMoCo (see all 6)73508-07-3--
    6 Novoseek chemical compound relationships for MOCS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    molybdopterin 97.1 83 11135669 (5), 11042213 (5), 12732628 (5), 12571227 (4) (see all 19)
    moco 95.8 9 11042213 (2), 11135669 (1), 18491921 (1), 10053004 (1) (see all 6)
    moae 95.2 5 12571227 (2), 12732628 (1)
    molybdenum 89.8 15 12732628 (2), 11746050 (1), 16021469 (1), 10053004 (1) (see all 8)
    pterin 75.9 2 12571227 (1), 12754701 (1)
    sulfur 64.3 6 18092812 (1), 12732628 (1), 18491921 (1)

    Search CenterWatch for drugs/clinical trials and news about MOCS2 / MOC2B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MOCS2 gene (2 alternative transcripts): 
    NM_004531.3  NM_176806.2  

    Unigene Cluster for MOCS2:

    Molybdenum cofactor synthesis 2
    Hs.163645  [show with all ESTs]
    Unigene Representative Sequence: NM_004531
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361377 ENST00000396954(uc003joz.3) ENST00000502402 ENST00000450852(uc011cqf.2)
    ENST00000510818 ENST00000508922 ENST00000582677 ENST00000584946 ENST00000527216
    ENST00000514553

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    Additional cDNA sequence: 

    AF091871.1 AF117815.1 AK312887.1 BC029287.1 BC039720.2 BC046097.1 BC095417.1 CR457172.1 

    10 DOTS entries:

    DT.99976248  DT.217911  DT.101984299  DT.100829612  DT.120799520  DT.100795301  DT.100795308  DT.120799506 
    DT.75107388  DT.101984301 

    24/273 AceView cDNA sequences (see all 273):

    AF117815 CD514049 CR615842 BM670346 CD370501 CR598495 BM980076 AA977271 
    AI056711 CB216737 AI754643 AI016715 BU623157 CR615175 BQ017886 BQ021790 
    BU179026 BU784450 AA022881 CA776224 AI784567 CB142016 CA411806 AA639963 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MOCS2    About this scheme

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


    ECgene alternative splicing isoforms for MOCS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MOCS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTCAAAAG
    MOCS2 Expression
    About this image
    See MOCS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MOCS2

    SOURCE GeneReport for Unigene cluster: Hs.163645

    UniProtKB/Swiss-Prot: MOC2A_HUMAN, O96033
    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

    UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007
    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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MOCS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for MOCS2 gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mocs21 , 5 molybdenum cofactor synthesis 21, 5 85.48(n)1
    83.87(a)1
      13 (64.61 cM)5
    174341  NM_001113374.11  NP_001106845.11 
     1148182445 
    chicken
    (Gallus gallus)
    Aves MOCS21 molybdenum cofactor synthesis 2 72.15(n)
    73.03(a)
      427199  XM_001231384.2  XP_001231385.1 
    lizard
    (Anolis carolinensis)
    Reptilia MOCS26
    --
    69(a)
    1 ↔ 1
    2(3538419-3543080)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.72982 Transcribed sequence with weak similarity to protein refNP_004522.1 (H.sapiens) molybdenum cofactor synthesis 2 [Homo sapiens] less 72.59(n)    BX710094.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.166602 Transcribed sequence with weak similarity to protein refNP_004522.1 (H.sapiens) molybdenum cofactor synthesis 2 [Homo sapiens] less 70.27(n)    BI980051.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG102383
    CG425031
    Mo-molybdopterin cofactor biosynthesis3
    CG425031
    56(a)3
    55.72(n)1
    57.66(a)1
      96C13
    86740211  NM_143083.31  NP_651340.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T27A3.61 Protein T27A3.6 49.58(n)
    43.67(a)
      188966  NM_059362.3  NP_491763.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G437601 Molybdopterin synthase catalytic subunit 53.57(n)
    51.43(a)
      818979  NM_001125046.1  NP_001118518.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01403001 hypothetical protein 44.6(n)
    42.25(a)
      4328260  NM_001052387.2  NP_001045852.1 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria moaE6
    molybdopterin synthase, large subunit
    29(a)
    1 ↔ 1
    Chromosome(818518-818970)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/240 NCBI SNPs in MOCS2 are shown (see all 240    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs413082871,2
    F--49365915(+) TTTAGG/ACAATT 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs38392611,2
    C--49366068(-) AGGAT-/GCATGA 2 -- ut312Minor allele frequency- G:0.25CSA 4
    rs101201,2
    C,F,H--49366103(+) GGGATG/AGGGGG 2 -- ut31 ese314Minor allele frequency- A:0.02MN NS EA CSA 2022
    rs737566181,2
    C--49366160(+) GTCACT/CGAGGA 2 -- ut312Minor allele frequency- C:0.03WA 120
    rs22332231,2
    C,H--49366338(-) AGGAAG/ACAAGA 2 -- ut31 trp34Minor allele frequency- A:0.00NS EA 420
    rs38420481,2
    C--49366735(-) AAAAA-/ATGTTT 2 -- int11Minor allele frequency- A:0.00CSA 2
    rs131804741,2
    H--49366919(+) CTTCCC/TTATAT 2 -- int14Minor allele frequency- T:0.00NS EA 418
    rs168808751,2
    C,F,H--49367040(+) CACATT/CCCATT 2 -- int111Minor allele frequency- C:0.05NA NS EA CSA WA 798
    rs753301041,2
    C--49367298(+) ATCTTA/GGAATG 2 -- int12Minor allele frequency- G:0.03CSA WA 120
    rs784890741,2
    C,F--49367371(+) GGGAAC/TAATAT 2 -- int12Minor allele frequency- T:0.10WA NA 238

    HapMap Linkage Disequilibrium report for MOCS2 (52391509 - 52405893 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for MOCS2
         1 CNV: 38027
    Human Gene Mutation Database (HGMD): MOCS2

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MOCS2 for disorders           About GeneDecksing

    OMIM gene information: 603708   
    OMIM disorders: 252150  
    UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007
  • Defects in MOCS2 are the cause of molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]; an
  • autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is characterized
    by severe neurological damage, neonatal seizures and early childhood death. The initiator codon is mutated which
    results in a complete loss of the protein
  • Defects in MOCS2 are the cause of molybdenum cofactor deficiency type B (MOCOD type B) [MIM:252150]. MOCOD
  • type B is an autosomal recessive disease which leads to the pleiotropic loss of all molybdoenzyme activities and is
    characterized by severe neurological damage, neonatal seizures and early childhood death

    11 diseases for MOCS2:    About MalaCards
    molybdenum cofactor deficiency    molybdenum cofactor deficiency, type b    spastic quadriplegia    autosomal recessive disease
    verrucous carcinoma    oligospermia    quadriplegia    spasticity
    tuberculosis    carcinoma    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for MOCS2:
    Spastic quadriplegia

    1 Novoseek disease relationship for MOCS2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    molybdenum cofactor deficiency 95.4 2 11746050 (1), 12732628 (1)


    Export disorders for MOCS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MOCS2 gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with MOCS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames. (PubMed id 9889283)1, 2, 3, 9 Sloan J.... Unkles S.E. (1999)
    2. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (PubMed id 10053004)1, 2, 3, 9 Reiss J....Zabot M.T. (1999)
    3. Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase. (PubMed id 16021469)1, 2, 9 Leimkuehler S.... Reiss J. (2005)
    4. Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (PubMed id 12732628)1, 2, 9 Leimkuehler S.... Mendel R.R. (2003)
    5. A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. (PubMed id 16737835)1, 2, 9 Hahnewald R.... Reiss J. (2006)
    6. Evidence for the physiological role of a rhodanese-like protein for the biosynthesis of the molybdenum cofactor in humans. (PubMed id 15073332)1, 2, 9 Matthies A....Leimkuhler S. (2004)
    7. Human molybdopterin synthase gene: identification of a bicistronic transcript with overlapping reading frames. (PubMed id 10053003)1, 2, 9 Stallmeyer B.... Mendel R.R. (1999)
    8. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins. (PubMed id 18491921)1, 9 Schmitz J.... Leimkuehler S. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4338 HGNC: 7193 AceView: MOCS2 Ensembl:ENSG00000164172 euGenes: HUgn4338
    ECgene: MOCS2 Kegg: 4338 H-InvDB: MOCS2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MOCS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MOCS2
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MOCS2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MOCS2 gene:
    Search GeneIP for patents involving MOCS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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