MOCS2

Protein identityUniProt · HPA

UniProt accession

O96007

Gene

MOCS2

Ensembl

ENSG00000164172

Chromosome

5

Canonical length

188 aa

Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Nuclear speckles,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

188 residues, UniProt reviewed canonical sequence.

>O96007|MOCS2
     1  MSSLEISSSC FSLETKLPLS PPLVEDSAFE PSRKDMDEVE EKSKDVINFT AEKLSVDEVS
    61  QLVISPLCGA ISLFVGTTRN NFEGKKVISL EYEAYLPMAE NEVRKICSDI RQKWPVKHIA
   121  VFHRLGLVPV SEASIIIAVS SAHRAASLEA VSYAIDTLKA KVPIWKKEIY EESSTWKGNK
   181  ECFWASNS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MOCS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

118 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MOCS2.

Disease | AllUniProt

Conditions MOCS2 is implicated in, by any mechanism.

• Molybdenum cofactor deficiency B (MOCODB) MIM:252160

Disease | GeneticClinVar

50 pathogenic / likely-pathogenic of 396 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1
• Combined molybdoflavoprotein enzyme deficiency
• Abnormality of metabolism/homeostasis
• Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.39

gnomAD pLI

0

gnomAD missense Z

-0.08

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• Mo-molybdopterin cofactor biosynthetic process
• molybdopterin cofactor biosynthetic process

Molecular functions

• molybdopterin synthase activity

Cellular components

• cytosol
• nuclear speck
• nucleoplasm
• molybdopterin synthase complex

Protein domainsUniProt · Pfam · InterPro

• Molybdopterin biosynthesis MoaE
• Molybdopterin synthase catalytic subunit, eukaryotes
• Molybdopterin biosynthesis MoaE subunit superfamily
• MoaE protein

KeywordsUniProt

• Cytoplasm
• Molybdenum cofactor biosynthesis
• Nucleus
• Phosphoprotein
• Transferase