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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
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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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