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    MOCS2 molybdenum cofactor synthesis 2 [ Homo sapiens (human) ]

    Gene ID: 4338, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MOCS2provided by HGNC
    Official Full Name
    molybdenum cofactor synthesis 2provided by HGNC
    Primary source
    HGNC:HGNC:7193
    See related
    Ensembl:ENSG00000164172 MIM:603708; AllianceGenome:HGNC:7193
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MPTS; MCBPE; MOCO1; MOCODB
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 14.3), adrenal (RPKM 13.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    5q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (53095679..53109757, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (53923465..53937543, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52391509..52405587, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene integrin subunit alpha 1 Neighboring gene ITGA2 antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:52283322-52284521 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16003 Neighboring gene uncharacterized LOC124900974 Neighboring gene integrin subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16004 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:52409973-52410472 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1275 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1276 Neighboring gene MOCS2 divergent transcript Neighboring gene ribosomal protein L13a pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2. Suganuma T. Molecules, 2022 Jun 10. PMID 35744859, Free PMC Article
    2. Molybdenum cofactor deficiency: clinical features in a Turkish patient. Per H, et al. Brain Dev, 2007 Jul. PMID 17158010
    3. A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. Hahnewald R, et al. Mol Genet Metab, 2006 Nov. PMID 16737835
    4. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Krawczak M, et al. Hum Genet, 1992 Sep-Oct. PMID 1427786
    5. Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency. Johnson JL, et al. Am J Med Genet, 2001 Nov 22. PMID 11746050

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.
      Title: Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.
    2. We reported here an infant with MoCD who presented with hypoxic ischaemic encephalopathy and identified a novel mutation, c.130C>T in cDNA of the MOCS2 gene from the infant.
      Title: Molybdenum cofactor deficiency: clinical features in a Turkish patient.
    3. Review: A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives
      Title: Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
    4. There was undisturbed production of both transcripts, while Western blot analysis demonstrated that MOCS2B, the large subunit, is unstable in the absence of MOCS2A.
      Title: A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.
    5. analysis of sites within MOCS2 where mutations cause molybdenum cofactor deficiency
      Title: Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38513

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to molybdopterin synthase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables molybdopterin synthase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Mo-molybdopterin cofactor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in molybdopterin cofactor biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of molybdopterin synthase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    molybdopterin synthase catalytic subunit; molybdopterin synthase sulfur carrier subunit
    Names
    molybdenum cofactor biosynthesis protein E
    NP_004522.1
    NP_789776.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008435.2 RefSeqGene

      Range
      5012..19090
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004531.5 → NP_004522.1  molybdopterin synthase catalytic subunit large subunit MOCS2B

      See identical proteins and their annotated locations for NP_004522.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the large subunit MOCS2B, also called MOCO1-B.
      Source sequence(s)
      AC008966, BC046097, BC095417, CB050849, DA967651
      Consensus CDS
      CCDS3958.1
      UniProtKB/Swiss-Prot
      O96007, Q6IAI3
      Related
      ENSP00000380157.3, ENST00000396954.8
      Conserved Domains (1) summary
      cd00756
      Location:54 → 177
      MoaE; MoaE family. Members of this family are involved in biosynthesis of the molybdenum cofactor (Moco), an essential cofactor for a diverse group of redox enzymes. Moco biosynthesis is an evolutionarily conserved pathway present in eubacteria, archaea and ...

    2. NM_176806.4 → NP_789776.1  molybdopterin synthase sulfur carrier subunit small subunit MOCS2A

      See identical proteins and their annotated locations for NP_789776.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has an alternate splice site in the 5' region, as compared to variant 3. This variant encodes the small subunit MOCS2A, also called MOCO1-A, which is derived from the upstream ORF and is supported by PMID 16737835.
      Source sequence(s)
      AC008966, BC095417, CB050849
      Consensus CDS
      CCDS47205.1
      UniProtKB/Swiss-Prot
      O96033
      UniProtKB/TrEMBL
      E9PKT9
      Related
      ENSP00000411022.3, ENST00000450852.8
      Conserved Domains (1) summary
      cd00754
      Location:7 → 88
      MoaD; Ubiquitin domain of MoaD-like proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      53095679..53109757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      53923465..53937543 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O96007.1 GenPept UniProtKB/Swiss-Prot:O96007
    O96033.1 GenPept UniProtKB/Swiss-Prot:O96033

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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