MOCOS (molybdenum cofactor sulfurase)

2014-11-01  

Identity

HGNC
MOCOS
LOCATION
18q12.2
LOCUSID
55034
ALIAS
HMCS,MCS,MOS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55034
MIM: 613274
HGNC: 18234
Ensembl: ENSG00000075643

Variants:

dbSNP: 55034
ClinVar: 55034
TCGA: ENSG00000075643
COSMIC: MOCOS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075643ENST00000261326Q96EN8

Expression (GTEx)

0
5
10
15
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
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
N/A

References

Pubmed IDYearTitleCitations
323277362021Impaired expression of the COSMOC/MOCOS gene unit in ASD patient stem cells.11
323277362021Impaired expression of the COSMOC/MOCOS gene unit in ASD patient stem cells.11
319007572020The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder.5
319007572020The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder.5
224954272012Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine.16
224954272012Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine.16
195000842009Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease.16
195000842009Novel pharmacogenetic markers for treatment outcome in azathioprine-treated inflammatory bowel disease.16
173680662007Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.15
173680662007Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.15

Citation

Dessen P

MOCOS (molybdenum cofactor sulfurase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70360