PAPSS2

Chr 10q23.2-q23.31

3'-phosphoadenosine 5'-phosphosulfate synthase 2

Aliases:: ATPSK2
MANE:: ENST00000456849.2

OMIM: 603005 ↗NCBI: 9060 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PAPSS2 · O95340

v62025-08-01

Predicted Aligned Error matrix for PAPSS2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.2/ 100

Very high

614 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)16%
Low(50–70)2%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta

Disease associations (Open Targets)

spondyloepimetaphyseal dysplasia, PAPSS2 type
0.79
Spondyloepimetaphyseal dysplasia, Pakistani type
0.71
hereditary disease
0.47
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
0.46
autosomal recessive brachyolmia
0.45
skeletal dysplasia
0.34
urinary tract obstruction
0.29
brachyolmia
0.28
hypothyroidism
0.27
migraine disorder
0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2

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, the activated sulfate donor used by sulfotransferases (PubMed:11773860, PubMed:19474428, PubMed:23824674, PubMed:25594860). In mammals, PAPS is the sole source of sulfate while APS appears to only be an intermediate in the sulfate-activation pathway (PubMed:11773860, PubMed:19474428, PubMed:23824674, PubMed:25594860). Plays indirectly an important role in skeletogenesis during postnatal growth (PubMed:9771708)