PAPSS2

Gene Information
 
Gene Symbol
PAPSS2
 
Aliases
ATPSK2, BCYM4, SK2
 
Entrez Gene ID
 
Gene Name
 
Chromosomal Location
10q23.2-q23.31
 
HGNC ID
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

SNPs

SNP
SNP ID
 Associated disease
References
R329X
Precocious Pubarche
S475X
Precocious Pubarche
L440Wfs*12
Premature pubarche
T48R Precocious Pubarche

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000103 Biological process Sulfate assimilation IBA 21873635
GO:0001501 Biological process Skeletal system development TAS 9771708
GO:0050428 Biological process 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process IBA 21873635
GO:0004020 Molecular function Adenylylsulfate kinase activity IBA 21873635
GO:0005515 Molecular function Protein binding IPI 32296183
Protein Information
 
Protein Name
 
Function
 
Refseq Proteins
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

Purine metabolism
Selenocompound metabolism
Sulfur metabolism
Metabolic pathways

  

Transport and synthesis of PAPS
Defective PAPSS2 causes SEMD-PA
     
References
 
 
PubMed ID Disease SNP/Mutation Study population Ethnicity Age of study population Type of sample
Precocious Pubarche 
T48R, R329X, S475X  
 Grirl:1  
Turkish 
 8 years  
Premature pubarche 
L440Wfs*12  
 Girls:1 
Turkish 
 7.5years  
Blood
Statistics
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