PAPPA2

Chr 1

pappalysin 2

Also known as: PAPP-A2, PAPP-E, PAPPE, PLAC3, SSDA

NCBI Gene: 60676ENSG00000116183UniProt: Q9BXP8

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtShort stature, Dauber-Argente type
1
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.000
Z-score 5.27
OE 0.35 (0.26–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.09Z-score
OE missense 0.90 (0.86–0.95)
921 obs / 1018.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.35 (0.26–0.48)
0≤0.351.4
Missense OE?0.90 (0.86–0.95)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 27 / 76.8Missense obs/exp: 921 / 1018.5Syn Z: 0.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PAPPA2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients