PAPSS2 | ENSG00000198682 | NCBI 9060

Details for: PAPSS2

Gene ID: 9060

Symbol: PAPSS2

Ensembl ID: ENSG00000198682

Description: 3'-phosphoadenosine 5'-phosphosulfate synthase 2

Associated with

Biological oxidations
(R-HSA-211859)
Cytosolic sulfonation of small molecules
(R-HSA-156584)
Defective papss2 causes semd-pa
(R-HSA-3560796)
Disease
(R-HSA-1643685)
Diseases associated with glycosaminoglycan metabolism
(R-HSA-3560782)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Glycosaminoglycan metabolism
(R-HSA-1630316)
Metabolism
(R-HSA-1430728)
Metabolism of amino acids and derivatives
(R-HSA-71291)
Metabolism of carbohydrates
(R-HSA-71387)
Metabolism of ingested h2seo4 and h2seo3 into h2se
(R-HSA-2408550)
Phase ii - conjugation of compounds
(R-HSA-156580)
Selenoamino acid metabolism
(R-HSA-2408522)
Transport and synthesis of paps
(R-HSA-174362)
3'-phosphoadenosine 5'-phosphosulfate biosynthetic process
(GO:0050428)
Adenylylsulfate kinase activity
(GO:0004020)
Atp binding
(GO:0005524)
Blood coagulation
(GO:0007596)
Bone development
(GO:0060348)
Cytosol
(GO:0005829)
Hormone metabolic process
(GO:0042445)
Nucleotidyltransferase activity
(GO:0016779)
Phosphorylation
(GO:0016310)
Protein binding
(GO:0005515)
Sulfate adenylyltransferase (atp) activity
(GO:0004781)
Sulfate assimilation
(GO:0000103)

Other Information

Proteins

Sulfurylase kinase 2

Genular Protein ID: 33584187

Symbol: PAPS2_HUMAN

Name: Sulfurylase kinase 2

UniProtKB Accession Codes:

O95340 Q9BZL2 Q9P0G6 Q9UHM1 Q9UKD3 Q9UP30

Database IDs:

Citations:

PubMed ID: 9771708

Title: Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.

PubMed ID: 9771708

DOI: 10.1038/2458

PubMed ID: 10679223

Title: Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization.

PubMed ID: 10679223

DOI: 10.1006/bbrc.2000.2123

PubMed ID: 10559207

Title: Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2.

PubMed ID: 10559207

DOI: 10.1074/jbc.274.47.33306

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9714015

Title: Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.

PubMed ID: 9714015

DOI: 10.1002/(sici)1096-8628(19980806)78:5<468::aid-ajmg13>3.3.co;2-2

PubMed ID: 19474428

Title: Inactivating PAPSS2 mutations in a patient with premature pubarche.

PubMed ID: 19474428

DOI: 10.1056/nejmoa0810489

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11773860

Title: Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes.

PubMed ID: 11773860

DOI: 10.1097/00008571-200201000-00003

PubMed ID: 23633440

Title: Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype.

PubMed ID: 23633440

DOI: 10.1002/ajmg.a.35906

PubMed ID: 23824674

Title: Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

PubMed ID: 23824674

DOI: 10.1002/humu.22377

PubMed ID: 25594860

Title: PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation - in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.

PubMed ID: 25594860

DOI: 10.1210/jc.2014-3556

Sequence Information:

Length: 614
Mass: 69501
Checksum: 52F4B6D972DDA91E
Sequence:

MSGIKKQKTE NQQKSTNVVY QAHHVSRNKR GQVVGTRGGF RGCTVWLTGL SGAGKTTISF 
ALEEYLVSHA IPCYSLDGDN VRHGLNRNLG FSPGDREENI RRIAEVAKLF ADAGLVCITS 
FISPFAKDRE NARKIHESAG LPFFEIFVDA PLNICESRDV KGLYKRARAG EIKGFTGIDS 
DYEKPETPER VLKTNLSTVS DCVHQVVELL QEQNIVPYTI IKDIHELFVP ENKLDHVRAE 
AETLPSLSIT KLDLQWVQVL SEGWATPLKG FMREKEYLQV MHFDTLLDDG VINMSIPIVL 
PVSAEDKTRL EGCSKFVLAH GGRRVAILRD AEFYEHRKEE RCSRVWGTTC TKHPHIKMVM 
ESGDWLVGGD LQVLEKIRWN DGLDQYRLTP LELKQKCKEM NADAVFAFQL RNPVHNGHAL 
LMQDTRRRLL ERGYKHPVLL LHPLGGWTKD DDVPLDWRMK QHAAVLEEGV LDPKSTIVAI 
FPSPMLYAGP TEVQWHCRSR MIAGANFYIV GRDPAGMPHP ETKKDLYEPT HGGKVLSMAP 
GLTSVEIIPF RVAAYNKAKK AMDFYDPARH NEFDFISGTR MRKLAREGEN PPDGFMAPKA 
WKVLTDYYRS LEKN

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PAPSS2

Associated with

Other Information

Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. PubMed ID: 9771708

Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization. PubMed ID: 10679223

Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2. PubMed ID: 10559207

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. PubMed ID: 9714015

Inactivating PAPSS2 mutations in a patient with premature pubarche. PubMed ID: 19474428

Initial characterization of the human central proteome. PubMed ID: 21269460

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes. PubMed ID: 11773860

Spondyloepimetaphyseal dysplasia Pakistani type: expansion of the phenotype. PubMed ID: 23633440

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations. PubMed ID: 23824674

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation - in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations. PubMed ID: 25594860