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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PAPSS2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
Chromosome 10 Β· 10q23.2-q23.31
NCBI Gene: 9060Ensembl: ENSG00000198682.14HGNC: HGNC:8604UniProt: O95340
70PubMed Papers
21Diseases
0Drugs
39Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
hormone metabolic process3'-phosphoadenosine 5'-phosphosulfate biosynthetic processnucleuscytosolspondyloepimetaphyseal dysplasia, PAPSS2 typeSpondyloepimetaphyseal dysplasia, Pakistani typeSpondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasiaautosomal recessive brachyolmia
✦AI Summary

PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) is a bifunctional enzyme catalyzing two sequential steps in sulfate activation, first converting ATP and inorganic sulfate to adenosine 5'-phosphosulfate (APS), then phosphorylating APS to generate 3'-phosphoadenosine 5'-phosphosulfate (PAPS) 1. PAPS serves as the universal sulfate donor for all sulfotransferase-catalyzed conjugation reactions in mammals 2. PAPSS2 localizes to both the cytosol and nucleus, with expression regulated by transcription factors including the aryl hydrocarbon receptor and hypoxia-responsive pathways 34. Clinically, PAPSS2 plays critical roles in intestinal homeostasis and hepatic protection. Loss-of-function mutations cause brachyolmia type 4, characterized by skeletal dysplasia and androgen excess 5. Intestinal-specific PAPSS2 knockout increases susceptibility to colitis and colonic carcinogenesis by reducing mucin sulfation and increasing intestinal permeability 6. Conversely, enhancing intestinal PAPSS2 expression via dietary indole-3-acetic acid supplementation protects against colitis 3. In hepatocytes, PAPSS2 inhibition paradoxically confers protection against acetaminophen-induced liver failure by preventing p53 sulfation and activating antioxidant responses 7. Additionally, elevated PAPSS2 expression correlates with longevity in humans 8 and facilitates hepatocellular carcinoma adaptation to hypoxia through histone sulfation 4. These diverse functions highlight PAPSS2 as a therapeutic target for inflammatory bowel disease, liver injury, and cancer.

Sources cited
1
PAPSS2 catalyzes two-step sulfate activation producing PAPS, the universal sulfate donor for sulfotransferases
PMID: 11773860
2
PAPS is synthesized from ATP and inorganic sulfate by PAPSS enzymes and serves as sulfate donor for SULT reactions
PMID: 10679223
3
Indole-3-acetic acid upregulates PAPSS2 via aryl hydrocarbon receptor to enhance intestinal mucin sulfation and protect against colitis
PMID: 39068517
4
PAPSS2 is upregulated by hypoxia-stimulated SNAIL pathway and provides PAPS for histone H3Y99 sulfation in hepatocellular carcinoma
PMID: 38311175
5
PAPSS2 deficiency causes brachyolmia type 4 with bone abnormalities and androgen excess
PMID: 38084048
6
Intestinal-specific PAPSS2 knockout increases colitis and colon cancer susceptibility through reduced mucin sulfation and increased intestinal permeability
PMID: 33819483
7
PAPSS2 inhibition protects against acetaminophen-induced liver failure by preventing p53 sulfation and activating antioxidant p53-p21-Nrf2 axis
PMID: 34954226
8
PAPSS2 expression is significantly higher in offspring of long-lived individuals, suggesting it is a longevity-associated gene
PMID: 26896383
Disease Associationsβ“˜21
spondyloepimetaphyseal dysplasia, PAPSS2 typeOpen Targets
0.80Strong
Spondyloepimetaphyseal dysplasia, Pakistani typeOpen Targets
0.73Strong
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasiaOpen Targets
0.46Moderate
autosomal recessive brachyolmiaOpen Targets
0.45Moderate
skeletal dysplasiaOpen Targets
0.34Weak
urinary tract obstructionOpen Targets
0.32Weak
migraine disorderOpen Targets
0.31Weak
sensory perception of smellOpen Targets
0.28Weak
circadian rhythm sleep disorderOpen Targets
0.27Weak
brachyolmiaOpen Targets
0.27Weak
hypothyroidismOpen Targets
0.24Weak
Genu valgumOpen Targets
0.23Weak
Genu varumOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.07Suggestive
viral diseaseOpen Targets
0.07Suggestive
glioblastoma multiformeOpen Targets
0.07Suggestive
hip dysplasia, Beukes typeOpen Targets
0.06Suggestive
Brachyolmia type 4 with mild epiphyseal and metaphyseal changesUniProt
Pathogenic Variants39
NM_001015880.2(PAPSS2):c.1476T>A (p.Tyr492Ter)Pathogenic
not provided|Spondyloepimetaphyseal dysplasia, PAPSS2 type|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 492
NM_001015880.2(PAPSS2):c.121C>T (p.Arg41Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type|not provided|PAPSS2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 41
NM_001015880.2(PAPSS2):c.712C>T (p.Arg238Ter)Pathogenic
not provided|Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜…β˜†β˜†2024β†’ Residue 238
NM_001015880.2(PAPSS2):c.1078del (p.His360fs)Pathogenic
not provided|Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜…β˜†β˜†2024β†’ Residue 360
NM_001015880.2(PAPSS2):c.1000C>T (p.Arg334Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type|not provided|Autosomal recessive brachyolmia
β˜…β˜…β˜†β˜†2024β†’ Residue 334
NM_001015880.2(PAPSS2):c.640-1G>CPathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜…β˜†β˜†2023
NM_001015880.2(PAPSS2):c.222C>G (p.Tyr74Ter)Pathogenic
Brachyolmia|Spondyloepimetaphyseal dysplasia, PAPSS2 type|PAPSS2-related disorder
β˜…β˜…β˜†β˜†2022β†’ Residue 74
NM_001015880.2(PAPSS2):c.28G>T (p.Glu10Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025β†’ Residue 10
NM_001015880.2(PAPSS2):c.492T>A (p.Tyr164Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025β†’ Residue 164
NM_001015880.2(PAPSS2):c.381+2T>GLikely pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025
NM_001015880.2(PAPSS2):c.1417G>T (p.Glu473Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025β†’ Residue 473
NM_001015880.2(PAPSS2):c.1056del (p.Thr353fs)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025β†’ Residue 353
NM_001015880.2(PAPSS2):c.998T>A (p.Leu333Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025β†’ Residue 333
NM_001015880.2(PAPSS2):c.520+1G>APathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2025
NM_001015880.2(PAPSS2):c.683_684del (p.Phe228fs)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2024β†’ Residue 228
NM_001015880.2(PAPSS2):c.1129C>T (p.Gln377Ter)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2024β†’ Residue 377
NM_001015880.2(PAPSS2):c.831C>G (p.Tyr277Ter)Likely pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2024β†’ Residue 277
NM_001015880.2(PAPSS2):c.316del (p.Val106fs)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2024β†’ Residue 106
NM_001015880.2(PAPSS2):c.1273del (p.Leu425fs)Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type
β˜…β˜†β˜†β˜†2023β†’ Residue 425
NM_001015880.2(PAPSS2):c.1037G>C (p.Arg346Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 346
View on ClinVar β†—
Related Genes
EEF1A1Protein interaction99%PORProtein interaction99%BPNT2Protein interaction98%CDAProtein interaction95%SLC26A2Protein interaction95%PPA1Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Lung
100%
Ovary
33%
Heart
16%
Brain
9%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
PAPSS2EEF1A1PORBPNT2CDASLC26A2PPA1
PROTEIN STRUCTURE
Preparing viewer…
PDB7FH3 Β· 1.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.14LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.70–1.14]
RankingsWhere PAPSS2 stands among ~20K protein-coding genes
  • #6,742of 20,598
    Most Researched70
  • #1,568of 5,498
    Most Pathogenic Variants39
  • #11,848of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedPAPSS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Gut microbiota metabolite indole-3-acetic acid maintains intestinal epithelial homeostasis through mucin sulfation.
PMID: 39068517
Gut Microbes Β· 2024
1.00
2
Inhibition of p53 Sulfoconjugation Prevents Oxidative Hepatotoxicity and Acute Liver Failure.
PMID: 34954226
Gastroenterology Β· 2022
0.90
3
Intestinal Sulfation Is Essential to Protect Against Colitis and Colonic Carcinogenesis.
PMID: 33819483
Gastroenterology Β· 2021
0.80
4
Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization.
PMID: 10679223
Biochem Biophys Res Commun Β· 2000
0.70
5
Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes.
PMID: 11773860
Pharmacogenetics Β· 2002
0.60