Seroatlas · Human Serome Atlas

PAPSS2

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2

Also known as: ATPSK2, PAPS2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O95340
Gene
PAPSS2
Ensembl
ENSG00000198682
Chromosome
10
Canonical length
614 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

614 residues, UniProt reviewed canonical sequence.

>O95340|PAPSS2
     1  MSGIKKQKTE NQQKSTNVVY QAHHVSRNKR GQVVGTRGGF RGCTVWLTGL SGAGKTTISF
    61  ALEEYLVSHA IPCYSLDGDN VRHGLNRNLG FSPGDREENI RRIAEVAKLF ADAGLVCITS
   121  FISPFAKDRE NARKIHESAG LPFFEIFVDA PLNICESRDV KGLYKRARAG EIKGFTGIDS
   181  DYEKPETPER VLKTNLSTVS DCVHQVVELL QEQNIVPYTI IKDIHELFVP ENKLDHVRAE
   241  AETLPSLSIT KLDLQWVQVL SEGWATPLKG FMREKEYLQV MHFDTLLDDG VINMSIPIVL
   301  PVSAEDKTRL EGCSKFVLAH GGRRVAILRD AEFYEHRKEE RCSRVWGTTC TKHPHIKMVM
   361  ESGDWLVGGD LQVLEKIRWN DGLDQYRLTP LELKQKCKEM NADAVFAFQL RNPVHNGHAL
   421  LMQDTRRRLL ERGYKHPVLL LHPLGGWTKD DDVPLDWRMK QHAAVLEEGV LDPKSTIVAI
   481  FPSPMLYAGP TEVQWHCRSR MIAGANFYIV GRDPAGMPHP ETKKDLYEPT HGGKVLSMAP
   541  GLTSVEIIPF RVAAYNKAKK AMDFYDPARH NEFDFISGTR MRKLAREGEN PPDGFMAPKA
   601  WKVLTDYYRS LEKN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PAPSS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
132 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 132 nTPM
  • colon: 75 nTPM
  • liver: 72 nTPM
  • lung: 69 nTPM
  • rectum: 60 nTPM
  • small intestine: 58 nTPM

Single-cell type

  • adrenal cortex cells: 1,065 nCPM
  • alveolar cells type 1: 595 nCPM
  • pancreatic islet cells: 509 nCPM
  • monocytes: 493 nCPM
  • enterocytes: 472 nCPM
  • cdc: 427 nCPM

Immune cell

  • non-classical monocyte: 7.7 nTPM
  • intermediate monocyte: 4 nTPM
  • myeloid DC: 2.1 nTPM
  • classical monocyte: 1.1 nTPM
  • total PBMC: 0.8 nTPM
  • neutrophil: 0.6 nTPM

Brain region

  • thalamus: 9.7 nTPM
  • pons: 8.5 nTPM
  • white matter: 7.5 nTPM
  • basal ganglia: 7.4 nTPM
  • medulla oblongata: 7.3 nTPM
  • cerebral cortex: 7.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PAPSS2.

Disease | AllUniProt

Conditions PAPSS2 is implicated in, by any mechanism.

  • Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) MIM:612847

Disease | GeneticClinVar

38 pathogenic / likely-pathogenic of 406 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spondyloepimetaphyseal dysplasia, PAPSS2 type
  • PAPSS2-related disorder
  • Autosomal recessive brachyolmia
  • Brachyolmia
  • Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.96
gnomAD pLI
0
gnomAD missense Z
0.46
DepMap mean gene effect
-0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PAPSS2 as an antibody target. Whether an autoantibody or antibody against PAPSS2 could matter depends on whether native PAPSS2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PAPSS2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PAPSS2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PAPSS2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...