ENSG00000198682


Homo sapiens

Features
Gene ID: ENSG00000198682
  
Biological name :PAPSS2
  
Synonyms : 3-phosphoadenosine 5-phosphosulfate synthase 2 / O95340 / PAPSS2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q23.2
Gene start: 87659613
Gene end: 87747705
  
Corresponding Affymetrix probe sets: 203058_s_at (Human Genome U133 Plus 2.0 Array)   203059_s_at (Human Genome U133 Plus 2.0 Array)   203060_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000354436
Ensembl peptide - ENSP00000406157
NCBI entrez gene - 9060     See in Manteia.
OMIM - 603005
RefSeq - NM_004670
RefSeq - NM_001015880
RefSeq Peptide - NP_001015880
RefSeq Peptide - NP_004661
swissprot - O95340
swissprot - Q5TB52
Ensembl - ENSG00000198682
  
Related genetic diseases (OMIM): 612847 - Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 papss2aENSDARG00000071021Danio rerio
 papss2bENSDARG00000056600Danio rerio
 PAPSS2ENSGALG00000003689Gallus gallus
 O88428ENSMUSG00000024899Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O43252 / PAPSS1 / 3-phosphoadenosine 5-phosphosulfate synthase 1ENSG0000013880174


Protein motifs (from Interpro)
Interpro ID Name
 IPR002650  Sulphate adenylyltransferase
 IPR002891  Adenylyl-sulfate kinase
 IPR014729  Rossmann-like alpha/beta/alpha sandwich fold
 IPR015947  PUA-like superfamily
 IPR024951  Sulphate adenylyltransferase catalytic domain
 IPR025980  ATP-sulfurylase PUA-like domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000103 sulfate assimilation IBA
 biological_processGO:0001501 skeletal system development TAS
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0050428 3"-phosphoadenosine 5"-phosphosulfate biosynthetic process IBA
 biological_processGO:0060348 bone development IEA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004020 adenylylsulfate kinase activity IBA
 molecular_functionGO:0004781 sulfate adenylyltransferase (ATP) activity TAS
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity ISS


Pathways (from Reactome)
Pathway description
Transport and synthesis of PAPS
Metabolism of ingested H2SeO4 and H2SeO3 into H2Se
Defective PAPSS2 causes SEMD-PA


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000869 Secondary amenorrhea 
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 HP:0000926 Platyspondyly 
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 HP:0001007 Hirsutism "Abnormally increased hair growth." [HPO:curators]
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 HP:0001061 Acne 
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 HP:0001156 Brachydactyly 
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 HP:0002651 Spondyloepimetaphyseal dysplasia 
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 HP:0002751 Kyphoscoliosis 
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 HP:0002979 Bowing of the legs 
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 HP:0003301 Irregular vertebral endplates "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004626 Lumbar scoliosis 
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 HP:0009816 Hypoplasia involving bones of the lower limbs 
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 HP:0012411 Premature pubarche "The onset of growth of pubic hair at an earlier age than normal." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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