MOCS2 (molybdenum cofactor synthesis 2)

2014-11-01  

Identity

HGNC
LOCATION
5q11.2
LOCUSID
ALIAS
MCBPE,MOCO1,MOCODB,MPTS
FUSION GENES

Other Information

Locus ID:

NCBI: 4338
MIM: 603708
HGNC: 7193
Ensembl: ENSG00000164172

Variants:

dbSNP: 4338
ClinVar: 4338
TCGA: ENSG00000164172
COSMIC: MOCS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164172ENST00000361377O96033
ENSG00000164172ENST00000396954O96007
ENSG00000164172ENST00000396954A0A024QZS1
ENSG00000164172ENST00000450852O96033
ENSG00000164172ENST00000508922O96033
ENSG00000164172ENST00000510818O96033
ENSG00000164172ENST00000527216E9PKT9
ENSG00000164172ENST00000582677O96033
ENSG00000164172ENST00000584946O96033

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
Sulfur relay systemKEGGko04122
Sulfur relay systemKEGGhsa04122
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Molybdenum cofactor biosynthesisREACTOMER-HSA-947581

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
127547012003Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.21
127326282003Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.19
167378352006A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.1
171580102007Molybdenum cofactor deficiency: clinical features in a Turkish patient.0

Citation

Dessen P

MOCS2 (molybdenum cofactor synthesis 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70362/mocs2