Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PAPSS2 Gene

Aliases for PAPSS2 Gene

  • 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2 2
  • 3-Phosphoadenosine 5-Phosphosulfate Synthase 2 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
  • 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 spondyloepiphyseal dysplasia tarda toledo type and brachyolmia 4 with mild epiphyseal and metaphyseal changes. Among its related pathways are Metabolism 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Gene Ontology (GO) - Molecular Function for PAPSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004020 adenylylsulfate kinase activity IBA --
GO:0004781 sulfate adenylyltransferase (ATP) activity ISS --
GO:0005524 ATP binding IEA --
GO:0016779 nucleotidyltransferase activity ISS --
genes like me logo Genes that share ontologies with PAPSS2: view
genes like me logo Genes that share phenotypes with PAPSS2: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAPSS2

In Situ Assay Products

Flow Cytometry Products

No data available for 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 4
chloroplast 1

Gene Ontology (GO) - Cellular Components for PAPSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PAPSS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0005975 carbohydrate metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0007596 blood coagulation IEA --
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: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0
ATP Pharma Activator 0
cysteine Nutra 143

(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
Antagonist, Gating inhibitor 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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAPSS2

Flow Cytometry Products

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia PAPSS2 36
  • 100 (a)
OneToOne
PAPSS2 35
  • 99.89 (n)
  • 100 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia PAPSS2 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Papss2 36
  • 91 (a)
OneToOne
Papss2 16
Papss2 35
  • 85.81 (n)
  • 91.75 (a)
oppossum
(Monodelphis domestica)
Mammalia PAPSS2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAPSS2 36
  • 94 (a)
OneToOne
PAPSS2 35
  • 85.47 (n)
  • 94.9 (a)
cow
(Bos Taurus)
Mammalia PAPSS2 36
  • 93 (a)
OneToOne
PAPSS2 35
  • 89.96 (n)
  • 93.16 (a)
rat
(Rattus norvegicus)
Mammalia Papss2 35
  • 86.76 (n)
  • 93.14 (a)
chicken
(Gallus gallus)
Aves PAPSS2 36
  • 85 (a)
OneToOne
PAPSS2 35
  • 76.54 (n)
  • 86.42 (a)
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 36
  • 81 (a)
OneToMany
papss2a 36
  • 77 (a)
OneToMany
wufb12e05 35
papss2b 35
  • 73.79 (n)
  • 81.57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6142 35
fruit fly
(Drosophila melanogaster)
Insecta Papss 36
  • 59 (a)
OneToMany
Paps 37
  • 62 (a)
worm
(Caenorhabditis elegans)
Secernentea pps-1 36
  • 55 (a)
OneToMany
pps-1 35
  • 57.69 (n)
  • 59.67 (a)
T14G10.1 37
  • 57 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET14 36
  • 50 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR001W 35
  • 55.33 (n)
  • 53.3 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12678 35
thale cress
(Arabidopsis thaliana)
eudicotyledons APS1 35
  • 59.35 (n)
  • 63.31 (a)
corn
(Zea mays)
Liliopsida Zm.5050 35
rice
(Oryza sativa)
Liliopsida Os03g0743900 35
  • 60.03 (n)
  • 61.24 (a)
Os.12747 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9328 36
  • 66 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2186 35
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 MAF
rs35618278 -- 87,736,403(+) CTGGG(-/T)ATTAC intron-variant
rs35559193 -- 87,737,383(+) AAAAA(-/A)TTAAG intron-variant
rs35428292 -- 87,736,447(+) ATTTT(-/T)AGTAG intron-variant
rs35405609 -- 87,662,584(+) CATAG(-/C)ACACC intron-variant
rs35388513 -- 87,736,744(+) GCCTT(A/G)ATCAC intron-variant

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: 15.33% 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

HapMap Linkage Disequilibrium report
PAPSS2
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

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

Disorder Aliases PubMed IDs
spondyloepiphyseal dysplasia tarda toledo type
  • brachyolmia type 1, toledo type
brachyolmia 4 with mild epiphyseal and metaphyseal changes
  • spondyloepimetaphyseal dysplasia, pakistani type
brachyolmia type 1 hobaek type
  • brachyolmia recessive type of hobaek
brachyolmia
  • brachyrachia
spondyloepimetaphyseal dysplasia
  • spondyloepimetaphyseal dysplasia matrilin-3 related
- elite association

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 23 67
  2. Response of ATP sulfurylase and serine acetyltransferase towards cadmium in hyperaccumulator Sedum alfredii Hance. (PMID: 19353742) Guo W.D. … Feng Y. (J Zhejiang Univ Sci B 2009) 23 67
  3. Inactivating PAPSS2 mutations in a patient with premature pubarche. (PMID: 19474428) Noordam C. … Arlt W. (N. Engl. J. Med. 2009) 23 67
  4. Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo. (PMID: 17436279) Stelzer C. … Dietz U.H. (Dev. Dyn. 2007) 23 67
  5. [Mechanisms of heavy metal cadmium tolerance in plants]. (PMID: 16477124) Zhang J. … Shu W.S. (Zhi Wu Sheng Li Yu Fen Zi Sheng Wu Xue Xue Bao 2006) 23 67

Products for PAPSS2 Gene

Sources for PAPSS2 Gene

Back to Top

Content