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Aliases for PAPSS2 Gene

Aliases for PAPSS2 Gene

  • 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2 2
  • 3-Phosphoadenosine 5-Phosphosulfate Synthase 2 2 3 5
  • Adenosine 5-Phosphosulfate Kinase 2 3
  • Sulfate Adenylyltransferase 2 3
  • Adenylyl-Sulfate Kinase 2 3
  • PAPS Synthase 2 3 4
  • ATPSK2 3 4
  • SK 2 3 4
  • SK2 3 4
  • Bifunctional 3-Phosphoadenosine 5-Phosphosulfate Synthethase 2 3
  • Bifunctional 3-Phosphoadenosine 5-Phosphosulfate Synthase 2 2
  • 3-Prime-Phosphoadenosine 5-Prime-Phosphosulfate Synthase 2 3
  • ATP Sulfurylase/Adenosine 5-Phosphosulfate Kinase 3
  • ATP Sulfurylase/APS Kinase 2 3
  • Sulfurylase Kinase 2 4
  • PAPS Synthetase 2 3
  • EC 2.7.1.25 63
  • PAPSS 2 4
  • BCYM4 3

External Ids for PAPSS2 Gene

Previous GeneCards Identifiers for PAPSS2 Gene

  • GC10P088301
  • GC10P088641
  • GC10P089550
  • GC10P089084
  • GC10P089409
  • GC10P083054

Summaries for PAPSS2 Gene

Entrez Gene Summary for PAPSS2 Gene

  • Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PAPSS2 Gene

PAPSS2 (3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2) is a Protein Coding gene. Diseases associated with PAPSS2 include Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes and Spondyloepimetaphyseal Dysplasia, Papss2 Type. Among its related pathways are RANK Signaling in Osteoclasts and Glycosaminoglycan metabolism. GO annotations related to this gene include nucleotidyltransferase activity and sulfate adenylyltransferase (ATP) activity. An important paralog of this gene is PAPSS1.

UniProtKB/Swiss-Prot for PAPSS2 Gene

  • Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have a important role in skeletogenesis during postnatal growth (By similarity).

Gene Wiki entry for PAPSS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAPSS2 Gene

Genomics for PAPSS2 Gene

Regulatory Elements for PAPSS2 Gene

Enhancers for PAPSS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PAPSS2 on UCSC Golden Path with GeneCards custom track

Promoters for PAPSS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAPSS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAPSS2 Gene

Chromosome:
10
Start:
87,659,613 bp from pter
End:
87,747,705 bp from pter
Size:
88,093 bases
Orientation:
Plus strand

Genomic View for PAPSS2 Gene

Genes around PAPSS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAPSS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAPSS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAPSS2 Gene

Proteins for PAPSS2 Gene

  • Protein details for PAPSS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95340-PAPS2_HUMAN
    Recommended name:
    Bifunctional 3-phosphoadenosine 5-phosphosulfate synthase 2
    Protein Accession:
    O95340
    Secondary Accessions:
    • Q9BZL2
    • Q9P0G6
    • Q9UHM1
    • Q9UKD3
    • Q9UP30

    Protein attributes for PAPSS2 Gene

    Size:
    614 amino acids
    Molecular mass:
    69501 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PAPSS2 Gene

    Alternative splice isoforms for PAPSS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAPSS2 Gene

Proteomics data for PAPSS2 Gene at MOPED

Selected DME Specific Peptides for PAPSS2 Gene

Post-translational modifications for PAPSS2 Gene

  • Ubiquitination at Lys 599 and Lys 602
  • Modification sites at PhosphoSitePlus

Other Protein References for PAPSS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PAPSS2 Gene

Graphical View of Domain Structure for InterPro Entry

O95340

UniProtKB/Swiss-Prot:

PAPS2_HUMAN :
  • In the N-terminal section; belongs to the APS kinase family.
Family:
  • In the N-terminal section; belongs to the APS kinase family.
  • In the C-terminal section; belongs to the sulfate adenylyltransferase family.
genes like me logo Genes that share domains with PAPSS2: view

No data available for Gene Families for PAPSS2 Gene

Function for PAPSS2 Gene

Molecular function for PAPSS2 Gene

GENATLAS Biochemistry:
3-phosphoadenosine 5-phosphosulfate synthase 2,murine brachymorphic gene homolog,catalyzing the activation of sulfate in two steps,synthesis of adenosine 5-phosphosulfate and phosphorylation of APS to generate 3-phospho-adenosine 5-phosphosulfate (PAPS),involved in skeletogenesis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + sulfate = diphosphate + adenylyl sulfate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + adenylyl sulfate = ADP + 3-phosphoadenylyl sulfate.
UniProtKB/Swiss-Prot Function:
Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3-phosphoadenylylsulfate (PAPS: activated sulfate donor used by sulfotransferase). In mammals, PAPS is the sole source of sulfate; APS appears to be only an intermediate in the sulfate-activation pathway. May have a important role in skeletogenesis during postnatal growth (By similarity).

Enzyme Numbers (IUBMB) for PAPSS2 Gene

genes like me logo Genes that share phenotypes with PAPSS2: view

Human Phenotype Ontology for PAPSS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PAPSS2 Gene

Localization for PAPSS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAPSS2 Gene COMPARTMENTS Subcellular localization image for PAPSS2 gene
Compartment Confidence
cytosol 5
nucleus 2
chloroplast 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PAPSS2 Gene

Pathways & Interactions for PAPSS2 Gene

genes like me logo Genes that share pathways with PAPSS2: view

UniProtKB/Swiss-Prot O95340-PAPS2_HUMAN

  • Pathway: Sulfur metabolism; sulfate assimilation.

Gene Ontology (GO) - Biological Process for PAPSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000103 sulfate assimilation IEA --
GO:0001501 skeletal system development TAS 9771708
GO:0007596 blood coagulation IEA --
GO:0016310 phosphorylation IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PAPSS2: view

No data available for SIGNOR curated interactions for PAPSS2 Gene

Drugs & Compounds for PAPSS2 Gene

(4) Drugs for PAPSS2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(10) Additional Compounds for PAPSS2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
14808-79-8
3-Phosphoadenylylselenate
Adenosine phosphosulfate
  • Adenosine 5'-phosphosulfate
  • Adenosine 5'-phosphosulphate
  • Adenosine 5'-sulphatophosphate
  • Adenosine Phosphosulfate
  • Adenosine Phosphosulphate
485-84-7
Adenylylselenate
  • Adenosine-5'-phosphoselenate
  • Adenylylselenic acid
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PAPSS2: view

Transcripts for PAPSS2 Gene

Unigene Clusters for PAPSS2 Gene

3-phosphoadenosine 5-phosphosulfate synthase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PAPSS2 Gene

No ASD Table

Relevant External Links for PAPSS2 Gene

GeneLoc Exon Structure for
PAPSS2
ECgene alternative splicing isoforms for
PAPSS2

Expression for PAPSS2 Gene

mRNA expression in normal human tissues for PAPSS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAPSS2 Gene

This gene is overexpressed in Adrenal Gland (x9.0), Liver (x4.8), and Lung (x4.5).

Protein differential expression in normal tissues from HIPED for PAPSS2 Gene

This gene is overexpressed in Islet of Langerhans (14.5), Cervix (12.7), and Adrenal (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PAPSS2 Gene



SOURCE GeneReport for Unigene cluster for PAPSS2 Gene Hs.524491

mRNA Expression by UniProt/SwissProt for PAPSS2 Gene

O95340-PAPS2_HUMAN
Tissue specificity: Expressed in cartilage and adrenal gland.
genes like me logo Genes that share expression patterns with PAPSS2: view

Protein tissue co-expression partners for PAPSS2 Gene

Primer Products

Orthologs for PAPSS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PAPSS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAPSS2 35
  • 89.96 (n)
  • 93.16 (a)
PAPSS2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAPSS2 35
  • 85.47 (n)
  • 94.9 (a)
PAPSS2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Papss2 35
  • 85.81 (n)
  • 91.75 (a)
Papss2 16
Papss2 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAPSS2 35
  • 99.89 (n)
  • 100 (a)
PAPSS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Papss2 35
  • 86.76 (n)
  • 93.14 (a)
oppossum
(Monodelphis domestica)
Mammalia PAPSS2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAPSS2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAPSS2 35
  • 76.54 (n)
  • 86.42 (a)
PAPSS2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PAPSS2 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia papss2 35
  • 75.37 (n)
  • 85.19 (a)
zebrafish
(Danio rerio)
Actinopterygii papss2b 35
  • 73.79 (n)
  • 81.57 (a)
wufb12e05 35
papss2a 36
  • 77 (a)
OneToMany
papss2b 36
  • 81 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6142 35
fruit fly
(Drosophila melanogaster)
Insecta Paps 37
  • 62 (a)
Papss 36
  • 59 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T14G10.1 37
  • 57 (a)
pps-1 35
  • 57.69 (n)
  • 59.67 (a)
pps-1 36
  • 55 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR001W 35
  • 55.33 (n)
  • 53.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET14 36
  • 50 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons APS1 35
  • 59.35 (n)
  • 63.31 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12678 35
rice
(Oryza sativa)
Liliopsida Os.12747 35
Os03g0743900 35
  • 60.03 (n)
  • 61.24 (a)
corn
(Zea mays)
Liliopsida Zm.5050 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2186 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9328 36
  • 66 (a)
OneToMany
Species with no ortholog for PAPSS2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PAPSS2 Gene

ENSEMBL:
Gene Tree for PAPSS2 (if available)
TreeFam:
Gene Tree for PAPSS2 (if available)

Paralogs for PAPSS2 Gene

Paralogs for PAPSS2 Gene

(1) SIMAP similar genes for PAPSS2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PAPSS2: view

Variants for PAPSS2 Gene

Sequence variations from dbSNP and Humsavar for PAPSS2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs45467596 - 87,727,289(+) ATGGC(A/G)TGATC reference, missense
rs17173698 - 87,709,196(+) TATAG(A/G)AGAAC reference, missense
rs45624631 - 87,715,819(+) AGGTT(A/C/T)TGCAC reference, missense
VAR_029138 -
VAR_063049 Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4)

Structural Variations from Database of Genomic Variants (DGV) for PAPSS2 Gene

Variant ID Type Subtype PubMed ID
esv22736 CNV Loss 19812545
nsv510994 CNV Complex 20534489
nsv507567 CNV Insertion 20534489
esv23999 CNV Loss 19812545

Variation tolerance for PAPSS2 Gene

Residual Variation Intolerance Score: 15.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.18; 69.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAPSS2 Gene

Human Gene Mutation Database (HGMD)
PAPSS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAPSS2 Gene

Disorders for PAPSS2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PAPSS2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
brachyolmia 4 with mild epiphyseal and metaphyseal changes
  • spondyloepimetaphyseal dysplasia, pakistani type
spondyloepimetaphyseal dysplasia, papss2 type
  • spondyloepimetaphyseal dysplasia, pakistani type
brachyolmia
  • brachyrachia
spondyloepimetaphyseal dysplasia
  • spondyloepimetaphyseal dysplasia matrilin-3 related
skeletal dysplasias
  • osteochondrodysplasias
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PAPS2_HUMAN
  • Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature. {ECO:0000269 PubMed:19474428, ECO:0000269 PubMed:23633440, ECO:0000269 PubMed:23824674, ECO:0000269 PubMed:25594860, ECO:0000269 PubMed:9714015}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PAPSS2

Genetic Association Database (GAD)
PAPSS2
Human Genome Epidemiology (HuGE) Navigator
PAPSS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAPSS2
genes like me logo Genes that share disorders with PAPSS2: view

No data available for Genatlas for PAPSS2 Gene

Publications for PAPSS2 Gene

  1. Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse. (PMID: 9771708) ul Haque M.F. … Cohn D.H. (Nat. Genet. 1998) 2 3 4 23 67
  2. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes. (PMID: 11773860) Xu Z.-H. … Weinshilboum R.M. (Pharmacogenetics 2002) 3 23
  3. Transcriptional regulation of human 3'-phosphoadenosine 5'-phosphosulphate synthase 2. (PMID: 11931653) Shimizu C. … Strott C.A. (Biochem. J. 2002) 3 23
  4. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase: radiochemical enzymatic assay, biochemical properties, and hepatic variation. (PMID: 11159808) Xu Z. … Weinshilboum R.M. (Drug Metab. Dispos. 2001) 3 23
  5. Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis. (PMID: 11558903) Ikeda T. … Ikegawa S. (J. Hum. Genet. 2001) 3 23

Products for PAPSS2 Gene

Sources for PAPSS2 Gene

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