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MOCS2 Gene

protein-coding   GIFtS: 60
GCID: GC05M052429

Molybdenum Cofactor Synthesis 2

  See MOCS2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Molybdenum Cofactor Synthesis 21 2     MOCS2A3
MCBPE2 3     MOCS2B3
MOCO12 3     Molybdenum Cofactor Synthesis Protein 2 Large Subunit3
MOCODB2 5     Molybdenum Cofactor Synthesis Protein 2 Small Subunit3
MPTS2 5     Molybdenum Cofactor Synthesis Protein 2A3
Molybdenum Cofactor Biosynthesis Protein E2     Molybdenum Cofactor Synthesis Protein 2B3
Molybdopterin Synthase Small And Large Subunit2     Molybdopterin-Synthase Large Subunit3
Molybdopterin Synthase Sulfur Carrier Subunit2     Molybdopterin-Synthase Small Subunit3
EC 2.8.1.123     MPT Synthase Large Subunit3
MOCO1-A3     Sulfur Carrier Protein MOCS2A3
MOCO1-B3     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and molybdenum cofactor deficiency b. GO annotations related to this gene include transferase activity and identical protein binding.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   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 Chromatin IP Primers for MOCS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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)
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)
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

Explore proteomics data for MOCS2 at MOPED

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
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MOCS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    MOCS2 Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for MOCS2

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR003448 Mopterin_biosynth_MoaE
     IPR028887 MOCS2A
     IPR010034 Mopterin_su_1
     IPR016155 Mopterin_synth/thiamin_S_b
     IPR012675 Beta-grasp_dom

    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 domain: 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


    Find genes that share domains with MOCS2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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 phosphate + 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0016740transferase activity ----
    GO:0030366molybdopterin synthase activity TAS--
    GO:0042802identical protein binding IEA--
         
    Find genes that share ontologies with MOCS2           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Mocs2 (no phenotypes)

    Find genes that share phenotypes with MOCS2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MOCS2
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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MOC2A_HUMAN, O96033: Cytoplasm, cytosol
    MOC2B_HUMAN, O96007: Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus4
    peroxisome2
    endoplasmic reticulum1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with MOCS2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MOCS2 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Sulfur relay system
    Sulfur relay system
    4Folate biosynthesis
    Folate biosynthesis
    5Disease
    Disease


    Find genes that share SuperPaths with MOCS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MOCS2
        molybdenum cofactor biosynthesis


    1 Reactome Pathway for MOCS2
        Molybdenum cofactor biosynthesis


    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MOCS2
    Interactions:

        GeneGlobe Interaction Network for MOCS2

    Selected 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:    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--

    Find genes that share ontologies with MOCS2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MOCS2 (MOC2B)

    1 HMDB Compound for MOCS2    About this table
    CompoundSynonyms CAS #PubMed Ids
    MolybdopterinMoCo (see all 6)73508-07-3--

    6 Novoseek inferred 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)



    Find genes that share compounds with MOCS2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MOCS2 gene (2 alternative transcripts): 
    NM_004531.4  NM_176806.3  

    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 mRNA 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 

    Selected AceView cDNA sequences (see all 273):

    BU623157 BG695843 CB164463 NM_183418 AF117815 NM_176806 BM973900 CB216737 
    BC039720 BF511532 BM763770 AA865838 CR624096 AI016715 BI768053 CB164712 
    BX091286 CA425053 CA429185 BM764343 CR615842 AI754643 AA252365 AA514297 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MOCS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCAAAAG
    MOCS2 Expression
    About this image


    MOCS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Liver (Hepatobiliary System)
     
     Adrenal Gland (Endocrine System)
     
     Kidney (Urinary System)
    MOCS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MOCS2 Protein Expression

    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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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MOCS2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mocs21 , 5 molybdenum cofactor synthesis 21, 5 85.03(n)1
    83.42(a)1
      13 (64.61 cM)5
    174341  NM_001113374.11  NP_001106845.11 
     1148182365 
    chicken
    (Gallus gallus)
    Aves MOCS21 molybdenum cofactor synthesis 2 72.15(n)
    73.03(a)
      427199  XM_003642941.2  XP_003642989.1 
    lizard
    (Anolis carolinensis)
    Reptilia MOCS26
    molybdenum cofactor synthesis 2
    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
    Mocs21
    Mo-molybdopterin cofactor biosynthesis3
    Molybdopterin synthase 21
    56(a)3
    55.72(n)1
    57.66(a)1
      96C13
    430171  NM_143083.31  NP_651340.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T27A3.61 T27A3.6 50.7(n)
    47.18(a)
      188966  NM_059362.4  NP_491763.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G437601 AT2G43760 54.11(n)
    52.17(a)
      818979  NM_001084582.1  NP_001078051.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01403001 Os02g0140300 44.6(n)
    42.25(a)
      4328260  NM_001052387.2  NP_001045852.1 


    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)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MOCS2 (see all 314)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0127654
    Molybdenum cofactor deficiency, complementation group B (MOCODB)4--see VAR_0127652 E K mis40--------
    VAR_0548544
    Molybdenum cofactor deficiency, complementation group B (MOCODB)4--see VAR_0548542 V F mis40--------
    rs14459401,2
    C,F,A,H--52330122(-) TTTCAG/AGTAAA 2 -- ds5001 ese38Minor allele frequency- A:0.12NS EA CSA WA NA 658
    rs1446974421,2
    C--52330398(+) GTTTAC/TCTAAA 2 -- ds50010--------
    rs1485285001,2
    --52330437(+) GTTAGC/GTTTAT 2 -- ds50010--------
    rs413082871,2
    C,F--52330567(+) TTTAGG/ACAATT 2 -- ds50011Minor allele frequency- A:0.03NA 120
    rs1428832991,2
    C--52330612(+) AAATCA/GTGGGT 2 -- ut310--------
    rs1866582141,2
    --52330664(+) ATCAAA/GACTGT 2 -- ut310--------
    rs38392611,2
    C--52330720(-) AGGAT-/GCATGA 2 -- ut312Minor allele frequency- G:0.25CSA 4
    rs101201,2
    C,F,H--52330755(+) GGGATG/AGGGGG 2 -- ut31 ese314Minor allele frequency- A:0.02MN NS EA CSA 2022

    HapMap Linkage Disequilibrium report for MOCS2 (52391509 - 52405893 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MOCS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830296CNV Gain17160897
    nsv442948CNV CNV18776908

    Human Gene Mutation Database (HGMD): MOCS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MOCS2
    DNA2.0 Custom Variant and Variant Library Synthesis for MOCS2

    (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.)
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    OMIM gene information: 603708   
    OMIM disorders: 252160  
    UniProtKB/Swiss-Prot: MOC2B_HUMAN, O96007
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 2 diseases for MOCS2:    
    About MalaCards
    molybdenum cofactor deficiency    molybdenum cofactor deficiency b


    Find genes that share disorders with MOCS2           About GenesLikeMe

    1 Novoseek inferred 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)
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    PubMed articles for MOCS2 gene, integrated from 10 sources (see all 42):
    (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. (Nucleic Acids Res. 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. (Am. J. Hum. Genet. 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. (Hum. Genet. 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. (J. Biol. Chem. 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. (Mol. Genet. Metab. 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.... Leimkuehler S. (Proc. Natl. Acad. Sci. U.S.A. 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. (Am. J. Hum. Genet. 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. (Nat. Biotechnol. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. 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. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4338 HGNC: 7193 AceView: MOCS2 Ensembl:ENSG00000164172 euGenes: HUgn4338
    ECgene: MOCS2 Kegg: 4338 H-InvDB: MOCS2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MOCS2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MOCS2[genesymbol]
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MOCS2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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