PAPSS2 Chromosome 10
3'-phosphoadenosine 5'-phosphosulfate synthase 2
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What This Gene Does
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 (7)
Spondyloepimetaphyseal dysplasia
PAPSS2 type
Inborn genetic diseases
Skeletal dysplasia
Autosomal recessive brachyolmia
PAPSS2-related disorder
Brachyolmia
Key Variants
RS138943074
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Inborn genetic diseases
Health Risk
RS145242127
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS151328869
Conflicting classifications of pathogenicity
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Inborn genetic diseases
Health Risk
RS1554869370
Likely pathogenic
Health Risk
RS2131731349
Likely pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS2131732940
Likely pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS752982930
Likely pathogenic
Health Risk
RS794727710
Likely pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS797045099
Likely pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS1209588647
Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS121908950
Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
RS121908951
Pathogenic
Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138943074 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Inborn genetic diseases |
| RS145242127 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS151328869 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Inborn genetic diseases |
| RS1554869370 | Health Risk | Likely pathogenic | — |
| RS2131731349 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS2131732940 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS752982930 | Health Risk | Likely pathogenic | — |
| RS794727710 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS797045099 | Health Risk | Likely pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS1209588647 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS121908950 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS121908951 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS121908952 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Autosomal recessive brachyolmia |
| RS1257774356 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS138386772 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS1471554906 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS17173698 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS185351326 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Inborn genetic diseases |
| RS1853674376 | Health Risk | Pathogenic | — |
| RS1853674954 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS201203612 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, PAPSS2-related disorder |
| RS2131732455 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS2492825486 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS2492847060 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS606231241 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS606231242 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS606231243 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS760085327 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS760686756 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS786200933 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS786200934 | Health Risk | Pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS374379931 | Health Risk | Pathogenic/Likely pathogenic | Brachyolmia, Spondyloepimetaphyseal dysplasia, PAPSS2 type |
| RS541008862 | Health Risk | Pathogenic/Likely pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |
| RS981095457 | Health Risk | Pathogenic/Likely pathogenic | Spondyloepimetaphyseal dysplasia, PAPSS2 type, Spondyloepimetaphyseal dysplasia |