MOCS2 (molybdenum cofactor synthesis 2)

2014-11-01  

Identity

HGNC
MOCS2
LOCATION
5q11.2
LOCUSID
4338
ALIAS
MCBPE,MOCO1,MOCODB,MPTS
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
357448592022Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.1
357448592022Beyond Moco Biosynthesis-Moonlighting Roles of MoaE and MOCS2.1
171580102007Molybdenum cofactor deficiency: clinical features in a Turkish patient.5
171580102007Molybdenum cofactor deficiency: clinical features in a Turkish patient.5
167378352006A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.6
167378352006A novel MOCS2 mutation reveals coordinated expression of the small and large subunit of molybdopterin synthase.6
127326282003Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.24
127547012003Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.31
127326282003Mechanistic studies of human molybdopterin synthase reaction and characterization of mutants identified in group B patients of molybdenum cofactor deficiency.24
127547012003Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.31

Citation

Dessen P

MOCS2 (molybdenum cofactor synthesis 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70362/mocs2-(molybdenum-cofactor-synthesis-2)