PAPPA2

Chr 1q25.2

pappalysin 2

Aliases:: PAPPE, PAPP-A2
MANE:: ENST00000367662.5

OMIM: 619485 ↗NCBI: 60676 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PAPPA2 · Q9BXP8

v62025-08-01

Predicted Aligned Error matrix for PAPPA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.5/ 100

Confident

1,791 residues

Confidence breakdown

Very high(≥ 90)17%
Confident(70–90)53%
Low(50–70)11%
Very low(< 50)19%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

IUGR and IGF abnormalities
BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes
BIALLELIC, autosomal or pseudoautosomal
Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Short stature, Dauber-Argente type
0.65
Abnormality of the skeletal system
0.57
hypertensive disorder
0.39
Polymenorrhea
0.31
Menorrhagia
0.31
Oligomenorrhea
0.31
risk-taking behaviour
0.31
glomerulonephritis
0.29
ovarian dysfunction
0.29
Epidermal Inclusion Cyst
0.26

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

Protein function (UniProt)

Pappalysin-2

Metalloproteinase which specifically cleaves insulin-like growth factor binding protein (IGFBP)-5 at the '163-Ser-|-Lys-164' bond. Shows limited proteolysis toward IGFBP-3