PAPSS2 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Gene ID: 9060, updated on 17-Mar-2024Gene type: protein coding
Also known as: SK2; BCYM4; ATPSK2
- See all available tests in GTR for this gene
- Go to complete Gene record for PAPSS2
- Go to Variation Viewer for PAPSS2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of exercise behavior in Dutch and American adults. GeneReviews: Not available | |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | See labs |
Genomic context
- Location:
- 10q23.2-q23.31
- Sequence:
- Chromosome: 10; NC_000010.11 (87659878..87747705)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PAPSS2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PAPSS2 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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