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 prote... See more...

Aliases for MOCS2 Gene

Aliases for MOCS2 Gene

  • Molybdenum Cofactor Synthesis 2 2 3 5
  • Molybdopterin Synthase Catalytic Subunit 2 3 4
  • MOCO1 2 3 4
  • Molybdopterin Synthase Sulfur Carrier Subunit 3 4
  • MOCS2A 2 4
  • MOCS2B 2 4
  • MCBPE 3 4
  • Molybdenum Cofactor Synthesis Protein 2 Small Subunit 4
  • Molybdenum Cofactor Synthesis Protein 2 Large Subunit 4
  • Molybdenum Cofactor Biosynthesis Protein E 3
  • Molybdenum Cofactor Synthesis Protein 2A 4
  • Molybdenum Cofactor Synthesis Protein 2B 4
  • Molybdopterin Synthase Large Subunit 2
  • Molybdopterin Synthase Small Subunit 2
  • Molybdopterin-Synthase Small Subunit 4
  • Molybdopterin-Synthase Large 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
  • MOCS2 5
  • 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, Complementation Group B and Molybdenum Cofactor Deficiency, Complementation Group A. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Folate biosynthesis. Gene Ontology (GO) annotations related to this gene include identical protein binding and molybdopterin synthase activity. An important paralog of this gene is MBIP.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MOCS2 Gene

Genomics for MOCS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MOCS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J053108 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 262.5 +0.5 462 2.8 BCLAF1 IKZF1 ZNF600 POLR2A CEBPA ZIC2 YY1 MXD4 CEBPB KLF11 LOC257396 MOCS2 lnc-ARL15-7 ITGA2
GH05J053034 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 18.5 +73.4 73360 4.9 ZNF580 BRCA1 CEBPB FEZF1 CTCF MAX EP300 ZNF623 RFX5 STAT3 ENSG00000286048 HSALNG0041760 ITGA2 MOCS2 LOC257396 ENSG00000249899 ENSG00000272123 FST
GH05J053089 Enhancer 0.8 Ensembl ENCODE 11 +20.5 20462 0.4 MBD2 CTBP1 GATA3 TCF7L2 ZNF217 DPF2 NFIB NCOA3 PRDM4 CREB1 ENSG00000272123 LOC257396 MOCS2 lnc-ARL15-7 ITGA2
GH05J053021 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +82.6 82638 12 ZNF600 SSRP1 JUND CEBPA ZIC2 BCL11A CEBPB FEZF1 ZEB1 HOMEZ ITGA2 ENSG00000249899 LOC257396 MOCS2 ENSG00000286048 HSALNG0041760
GH05J053368 Enhancer 0.9 Ensembl ENCODE dbSUPER 4.8 -258.9 -258938 2 CEBPB EP300 NFE2 IRF9 FOXA1 ATF4 MNT ATF3 NFE2L2 TRIM24 MOCS2 LOC257396 FJ601684-375 lnc-FST-6 MK280144-551 FST
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MOCS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MOCS2

Top Transcription factor binding sites by QIAGEN in the MOCS2 gene promoter:
  • AML1a
  • HNF-1
  • HNF-1A
  • HOXA3
  • S8

Genomic Locations for MOCS2 Gene

Latest Assembly
chr5:53,095,679-53,110,063
(GRCh38/hg38)
Size:
14,385 bases
Orientation:
Minus strand

Previous Assembly
chr5:52,391,509-52,405,587
(GRCh37/hg19 by Entrez Gene)
Size:
14,079 bases
Orientation:
Minus strand

chr5:52,391,509-52,405,893
(GRCh37/hg19 by Ensembl)
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:
    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).

    Three dimensional structures from OCA and Proteopedia 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

neXtProt entry for MOCS2 Gene

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

No data available for DME Specific Peptides for MOCS2 Gene

Domains & Families for MOCS2 Gene

Gene Families for MOCS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MOCS2 Gene

InterPro:
Blocks:
  • ThiamineS
  • Molybdopterin biosynthesis MoaE

Suggested Antigen Peptide Sequences for MOCS2 Gene

GenScript: Design optimal peptide antigens:
  • Sulfur carrier protein MOCS2A (MOC2A_HUMAN)
  • Molybdopterin-synthase large subunit (MOC2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96033

UniProtKB/Swiss-Prot:

MOC2B_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

Function for MOCS2 Gene

Molecular function for MOCS2 Gene

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-NH-CH2-C(O)SH + cyclic pyranopterin phosphate + H2O = 2 [molybdopterin-synthase sulfur-carrier protein]-C-terminal Gly-Gly + 4 H(+) + molybdopterin; Xref=Rhea:RHEA:26333, Rhea:RHEA-COMP:12160, Rhea:RHEA-COMP:12202, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58698, ChEBI:CHEBI:59648, ChEBI:CHEBI:90619, ChEBI:CHEBI:90778; EC=2.8.1.12; Evidence={ECO:0000255|HAMAP-Rule:MF_03052, ECO:0000269|PubMed:12732628, ECO:0000269|PubMed:15073332};.
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

Enzyme Numbers (IUBMB) for MOCS2 Gene

Phenotypes From GWAS Catalog for MOCS2 Gene

Gene Ontology (GO) - Molecular Function for MOCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0016740 transferase activity IEA --
GO:0030366 molybdopterin synthase activity IEA,TAS --
genes like me logo Genes that share ontologies with MOCS2: view
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:
  • Mocs2 Mocs2<tm1(KOMP)Vlcg>
  • Mocs2 Mocs2<tm1b(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MOCS2

Clone products for research

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MOCS2 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MOCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
GO:0016607 nuclear speck IDA --
GO:0019008 molybdopterin synthase complex IEA,IPI 12732628
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

UniProtKB/Swiss-Prot O96033-MOC2A_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.

UniProtKB/Swiss-Prot O96007-MOC2B_HUMAN

  • Pathway: Cofactor biosynthesis; molybdopterin biosynthesis.

Gene Ontology (GO) - Biological Process for MOCS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA,IDA 12732628
GO:0032324 molybdopterin cofactor biosynthetic process TAS --
genes like me logo Genes that share ontologies with MOCS2: view

No data available for SIGNOR curated interactions for MOCS2 Gene

Drugs & Compounds for MOCS2 Gene

(3) Drugs for MOCS2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fosdenopterin Approved Pharma Target, substrate 0
Water Approved Pharma 0

(5) Additional Compounds for MOCS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MOCS2: view

Transcripts for MOCS2 Gene

mRNA/cDNA for MOCS2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MOCS2

Clone products for research

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

Expression for MOCS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MOCS2 Gene



Protein tissue co-expression partners for MOCS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MOCS2

SOURCE GeneReport for Unigene cluster for MOCS2 Gene:

Hs.163645

mRNA Expression by UniProt/SwissProt for MOCS2 Gene:

O96033-MOC2A_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.

Evidence on tissue expression from TISSUES for MOCS2 Gene

  • Liver(4.5)
  • Adrenal gland(4.4)
  • Intestine(4.3)
  • Nervous system(3.9)
  • Kidney(2.7)
  • Heart(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MOCS2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
Abdomen:
  • kidney
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with MOCS2: view

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 29 30
  • 99.65 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MOCS2 29 30
  • 90.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MOCS2 29 30
  • 89.3 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mocs2 29 16 30
  • 85.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mocs2 29
  • 84.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia MOCS2 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MOCS2 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MOCS2 29 30
  • 72.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MOCS2 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mocs2 29
  • 69.7 (n)
Str.7298 29
Zebrafish
(Danio rerio)
Actinopterygii mocs2 29 30
  • 61.94 (n)
OneToOne
Dr.16660 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG10238 31
  • 56 (a)
Mocs2 29 30
  • 55.72 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta MOC2B_ANOGA 29
  • 52.96 (n)
Worm
(Caenorhabditis elegans)
Secernentea T27A3.6 29 30
  • 50.7 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G43760 29
  • 54.11 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0140300 29
  • 44.6 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3820 30
  • 52 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU03170 29
  • 46.42 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4481 29
Species where no ortholog for MOCS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MOCS2: view image
Alliance of Genome Resources:
Additional Orthologs for MOCS2

Paralogs for MOCS2 Gene

Paralogs for MOCS2 Gene

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

Variants for MOCS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MOCS2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1001442 Uncertain Significance: not provided 53,108,601(-) C/A
NM_004531.5(MOCS2):c.-127G>T
MISSENSE_VARIANT,FIVE_PRIME_UTR
1004788 Uncertain Significance: not provided 53,100,448(-) A/G
NM_004531.5(MOCS2):c.464T>C (p.Ile155Thr)
MISSENSE_VARIANT,THREE_PRIME_UTR
1006620 Uncertain Significance: not provided 53,107,183(-) C/T
NM_004531.5(MOCS2):c.-9G>A
MISSENSE_VARIANT,FIVE_PRIME_UTR
1008230 Uncertain Significance: not provided 53,102,126(-) G/A
NM_004531.5(MOCS2):c.197C>T (p.Pro66Leu)
MISSENSE_VARIANT,THREE_PRIME_UTR
1013254 Uncertain Significance: not provided 53,109,706(-) C/G
NM_004531.5(MOCS2):c.-625G>C
FIVE_PRIME_UTR_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MOCS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv3570141 CNV loss 25503493
nsv442948 CNV loss 18776908
nsv830296 CNV gain 17160897

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)

Additional Variant Information for MOCS2 Gene

Human Gene Mutation Database (HGMD)
MOCS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MOCS2
Leiden Open Variation Database (LOVD)
MOCS2

SNP Genotyping and Copy Number Assays for research

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

Disorders for MOCS2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for MOCS2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search MOCS2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MOC2B_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:12732628, ECO:0000269 PubMed:16021469, ECO:0000269 PubMed:16737835}. Note=The disease is caused by variants 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 variants affecting the gene represented in this entry.

Additional Disease Information for 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. Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. (PMID: 10053004) Reiss J … Zabot MT (American journal of human genetics 1999) 2 3 4 22 72
  2. A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase. (PMID: 16737835) Hahnewald R … Reiss J (Molecular genetics and metabolism 2006) 2 3 4 22
  3. Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency. (PMID: 12732628) Leimkuhler S … Mendel RR (The Journal of biological chemistry 2003) 3 4 22 72
  4. The two subunits of human molybdopterin synthase: evidence for a bicistronic messenger RNA with overlapping reading frames. (PMID: 9889283) Sloan J … Unkles SE (Nucleic acids research 1999) 2 3 4 22
  5. The sulfurtransferase activity of Uba4 presents a link between ubiquitin-like protein conjugation and activation of sulfur carrier proteins. (PMID: 18491921) Schmitz J … Leimkühler S (Biochemistry 2008) 3 4 22

Products for MOCS2 Gene

Sources for MOCS2 Gene