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.... See more...

Aliases for PAPSS2 Gene

Aliases for PAPSS2 Gene

  • 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2 2 3 5
  • Bifunctional 3'-Phosphoadenosine 5'-Phosphosulfate Synthase 2 2 3 4
  • ATPSK2 2 3 4
  • Adenosine 5'-Phosphosulfate Kinase 2 3
  • Sulfate Adenylyltransferase 2 3
  • Adenylyl-Sulfate Kinase 2 3
  • PAPS Synthase 2 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
  • Epididymis Secretory Sperm Binding Protein 3
  • ATP Sulfurylase/APS Kinase 2 3
  • Sulfurylase Kinase 2 4
  • PAPS Synthetase 2 3
  • EC 2.7.1.25 51
  • PAPSS 2 4
  • PAPSS2 5
  • 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 Type 4 With Mild Epiphyseal And Metaphyseal Changes and Autosomal Recessive Brachyolmia. Among its related pathways are Cytochrome P450 - arranged by substrate type and Viral mRNA Translation. Gene Ontology (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 Summary 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 an important role in skeletogenesis during postnatal growth (By similarity).

Gene Wiki entry for PAPSS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAPSS2 Gene

Genomics for PAPSS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PAPSS2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAPSS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAPSS2

Top Transcription factor binding sites by QIAGEN in the PAPSS2 gene promoter:
  • AML1a
  • AREB6
  • c-Myc
  • C/EBPbeta
  • En-1
  • FOXC1
  • Max
  • POU2F1
  • POU2F1a

Genomic Locations for PAPSS2 Gene

Genomic Locations for PAPSS2 Gene
chr10:87,659,613-87,747,705
(GRCh38/hg38)
Size:
88,093 bases
Orientation:
Plus strand
chr10:89,419,370-89,507,462
(GRCh37/hg19)
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

Selected DME Specific Peptides for PAPSS2 Gene

O95340:
  • TGLSGAGK
  • LDGDNVR

Post-translational modifications for PAPSS2 Gene

  • Ubiquitination at Lys599 and Lys602
  • Modification sites at PhosphoSitePlus

Other Protein References for PAPSS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PAPSS2 Gene

Gene Families for PAPSS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PAPSS2 Gene

Suggested Antigen Peptide Sequences for PAPSS2 Gene

GenScript: Design optimal peptide antigens:
  • Sulfurylase kinase 2 (PAPS2_HUMAN)
  • cDNA, FLJ92929, highly similar to Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), mRNA (Q5TB52_HUMAN)

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

Function for PAPSS2 Gene

Molecular function for PAPSS2 Gene

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 an important role in skeletogenesis during postnatal growth (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H(+) + sulfate = adenosine 5'-phosphosulfate + diphosphate; Xref=Rhea:RHEA:18133, ChEBI:CHEBI:15378, ChEBI:CHEBI:16189, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58243; EC=2.7.7.4;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine 5'-phosphosulfate + ATP = 3'-phosphoadenylyl sulfate + ADP + H(+); Xref=Rhea:RHEA:24152, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58243, ChEBI:CHEBI:58339, ChEBI:CHEBI:456216; EC=2.7.1.25;.
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

Enzyme Numbers (IUBMB) for PAPSS2 Gene

Phenotypes From GWAS Catalog for PAPSS2 Gene

Gene Ontology (GO) - Molecular Function for PAPSS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003824 catalytic activity IEA --
GO:0004020 adenylylsulfate kinase activity IEA --
GO:0004781 sulfate adenylyltransferase (ATP) activity ISS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PAPSS2: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAPSS2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PAPSS2 Gene

Localization for PAPSS2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAPSS2 gene
Compartment Confidence
cytosol 4
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,IEA --
GO:0001501 skeletal system development TAS 9771708
GO:0007596 blood coagulation IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Sulfate Experimental, Investigational Pharma 0
3'-phospho-5'-adenylyl sulfate Experimental Pharma 0
Adenosine phosphosulfate Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Phosphoadenylylselenate
  • 3'-Phosphoadenosine-5'-phosphoselanate
  • 3'-Phosphoadenosine-5'-phosphoselenate
  • 3'-Phosphoadenylylselenate
  • 3'-Phosphoadenosine-5'-phosphoselanic acid
  • 3-Phosphoadenylylselenic acid
Adenylylselenate
  • Adenosine-5'-phosphoselenate
  • Adenosine-5'-phosphoselenic acid
  • Adenylylselenic acid
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
Selenocystathionine
  • 2-amino-4-[(2-amino-2-Carboxyethyl)selanyl]butyric acid
  • Selenocystathionines
  • 2-amino-4-[(2-amino-2-Carboxyethyl)selanyl]butyrate
  • 2-amino-4-((2-amino-2-Carboxyethyl)seleno)-butanoate
  • 2-amino-4-((2-amino-2-Carboxyethyl)seleno)-butanoic acid
2196-58-9
genes like me logo Genes that share compounds with PAPSS2: view

Transcripts for PAPSS2 Gene

mRNA/cDNA for PAPSS2 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PAPSS2

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

No ASD Table

Relevant External Links for PAPSS2 Gene

GeneLoc Exon Structure for
PAPSS2

Expression for PAPSS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PAPSS2 Gene



Protein tissue co-expression partners for PAPSS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAPSS2

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.

Evidence on tissue expression from TISSUES for PAPSS2 Gene

  • Liver(4.5)
  • Intestine(4.4)
  • Lung(2.9)
  • Adrenal gland(2.8)
  • Kidney(2.7)
  • Skin(2.4)
  • Pancreas(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PAPSS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PAPSS2: view

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 30 31
  • 99.89 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PAPSS2 31
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia PAPSS2 30 31
  • 89.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Papss2 30
  • 86.76 (n)
Mouse
(Mus musculus)
Mammalia Papss2 30 17 31
  • 85.81 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PAPSS2 30 31
  • 85.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PAPSS2 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PAPSS2 30 31
  • 76.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PAPSS2 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia papss2 30
  • 75.37 (n)
Zebrafish
(Danio rerio)
Actinopterygii papss2a 31
  • 77 (a)
OneToMany
papss2b 30 31
  • 73.79 (n)
OneToMany
wufb12e05 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6142 30
Fruit Fly
(Drosophila melanogaster)
Insecta Paps 32
  • 62 (a)
Papss 31
  • 59 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pps-1 30 31
  • 57.69 (n)
OneToMany
T14G10.1 32
  • 57 (a)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR001W 30
  • 55.33 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MET14 31
  • 50 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons APS1 30
  • 59.35 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12678 30
Rice
(Oryza sativa)
Liliopsida Os03g0743900 30
  • 60.03 (n)
Os.12747 30
Corn
(Zea mays)
Liliopsida Zm.5050 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.9328 31
  • 66 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2186 30
Species where no ortholog for PAPSS2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PAPSS2: view image

Paralogs for PAPSS2 Gene

Paralogs for PAPSS2 Gene

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

  • PAPS2_HUMAN
  • E7ER89_HUMAN
  • Q5TB52_HUMAN
genes like me logo Genes that share paralogs with PAPSS2: view

Variants for PAPSS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAPSS2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
655993 Uncertain Significance: Spondyloepimetaphyseal dysplasia, pakistani type 87,745,197(+) G/A MISSENSE_VARIANT
661369 Uncertain Significance: Spondyloepimetaphyseal dysplasia, pakistani type 87,745,193(+) C/G MISSENSE_VARIANT
717227 Likely Benign: not provided 87,743,563(+) C/T SYNONYMOUS_VARIANT
752842 Likely Benign: not provided 87,743,419(+) T/C SYNONYMOUS_VARIANT
760024 Likely Benign: not provided 87,715,853(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PAPSS2 Gene

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

Variant ID Type Subtype PubMed ID
esv22736 CNV loss 19812545
esv23999 CNV loss 19812545
esv3546635 CNV deletion 23714750
esv3891880 CNV gain 25118596
nsv1116655 CNV tandem duplication 24896259
nsv507567 OTHER sequence alteration 20534489
nsv510994 OTHER complex 20534489

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)

Additional Variant Information for PAPSS2 Gene

Human Gene Mutation Database (HGMD)
PAPSS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAPSS2

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

Disorders for PAPSS2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
brachyolmia type 4 with mild epiphyseal and metaphyseal changes
  • bcym4
autosomal recessive brachyolmia
  • brachyolmia, hobaek/toledo type
brachyolmia
  • brachyrachia
multiple epiphyseal dysplasia
  • epiphyseal dysplasia, multiple, 1
achondrogenesis, type ib
  • acg1b
- 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.

Additional Disease Information for PAPSS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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) Faiyaz ul Haque M … Cohn DH (Nature genetics 1998) 2 3 4 23
  2. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes. (PMID: 11773860) Xu ZH … Weinshilboum RM (Pharmacogenetics 2002) 3 4 23
  3. 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 (Journal of human genetics 2001) 3 23 41
  4. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization. (PMID: 10679223) Xu ZH … Weinshilboum RM (Biochemical and biophysical research communications 2000) 3 4 23
  5. Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2. (PMID: 10559207) Kurima K … Schwartz NB (The Journal of biological chemistry 1999) 3 4 23

Products for PAPSS2 Gene

  • Signalway Proteins for PAPSS2

Sources for PAPSS2 Gene