PAPPA2 Chromosome 1
Pappalysin 2
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What This Gene Does
This gene encodes a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
Gene Info
Gene Group
"Pappalysins|Sushi domain containing"
Locus Type
gene with protein product
Location
1q25.2
Ensembl
ENSG00000116183
Associated Conditions (3)
Inborn genetic diseases
Short stature
Dauber-Argente type
Key Variants
RS370618435
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS376402363
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS116269563
Pathogenic
Health Risk
RS1164296221
Pathogenic
Health Risk
RS1414763157
Pathogenic
Health Risk
RS1665095845
Pathogenic
Health Risk
RS2102651720
Pathogenic
Short stature, Dauber-Argente type, Short stature
Health Risk
RS2102813590
Pathogenic
Short stature, Dauber-Argente type, Short stature
Health Risk
RS2102818589
Pathogenic
Short stature, Dauber-Argente type, Short stature
Health Risk
RS2525428927
Pathogenic
Health Risk
RS375941290
Pathogenic
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS370618435 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376402363 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS116269563 | Health Risk | Pathogenic | — |
| RS1164296221 | Health Risk | Pathogenic | — |
| RS1414763157 | Health Risk | Pathogenic | — |
| RS1665095845 | Health Risk | Pathogenic | — |
| RS2102651720 | Health Risk | Pathogenic | Short stature, Dauber-Argente type, Short stature |
| RS2102813590 | Health Risk | Pathogenic | Short stature, Dauber-Argente type, Short stature |
| RS2102818589 | Health Risk | Pathogenic | Short stature, Dauber-Argente type, Short stature |
| RS2525428927 | Health Risk | Pathogenic | — |
| RS375941290 | Health Risk | Pathogenic | — |