PAPSS2 (3-phosphoadenosine 5-phosphosulfate synthase 2)

2013-06-01  

Identity

HGNC
LOCATION
10q23.2
LOCUSID
ALIAS
ATPSK2,BCYM4,SK2
FUSION GENES

Other Information

Locus ID:

NCBI: 9060
MIM: 603005
HGNC: 8604
Ensembl: ENSG00000198682

Variants:

dbSNP: 9060
ClinVar: 9060
TCGA: ENSG00000198682
COSMIC: PAPSS2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198682ENST00000361175O95340
ENSG00000198682ENST00000361175Q5TB52
ENSG00000198682ENST00000456849O95340

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Selenocompound metabolismKEGGko00450
Sulfur metabolismKEGGko00920
Purine metabolismKEGGhsa00230
Selenocompound metabolismKEGGhsa00450
Sulfur metabolismKEGGhsa00920
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Transport and synthesis of PAPSREACTOMER-HSA-174362
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Biological oxidationsREACTOMER-HSA-211859
Phase II conjugationREACTOMER-HSA-156580
Cytosolic sulfonation of small moleculesREACTOMER-HSA-156584
Selenoamino acid metabolismREACTOMER-HSA-2408522
Metabolism of ingested H2SeO4 and H2SeO3 into H2SeREACTOMER-HSA-2408550

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
197270252009Genome-wide association study of exercise behavior in Dutch and American adults.35
197270252009Genome-wide association study of exercise behavior in Dutch and American adults.35
255948602015PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.19
222421752012Human PAPS synthase isoforms are dynamically regulated enzymes with access to nucleus and cytoplasm.13
227918352012PAPSS2 mutations cause autosomal recessive brachyolmia.12
115589032001Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.11
238246742013Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.11
223945852012Altered responsiveness to TGF-β results in reduced Papss2 expression and alterations in the biomechanical properties of mouse articular cartilage.10

Citation

Dessen P

PAPSS2 (3-phosphoadenosine 5-phosphosulfate synthase 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53351/papss2