SPINT2

Chr 19q13.2

serine peptidase inhibitor, Kunitz type 2

Aliases:: Kop, HAI-2, HAI2
MANE:: ENST00000301244.12

OMIM: 605124 ↗NCBI: 10653 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SPINT2 · O43291

v62025-08-01

Predicted Aligned Error matrix for SPINT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.1/ 100

Confident

252 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)16%
Low(50–70)23%
Very low(< 50)7%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Choanal atresia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intestinal failure or congenital diarrhoea
BIALLELIC, autosomal or pseudoautosomal
Limb disorders
BIALLELIC, autosomal or pseudoautosomal
Ocular coloboma
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

congenital sodium diarrhea
0.67
syndromic congenital sodium diarrhea
0.46
prostate carcinoma
0.46
abdominal abscess
0.28
digestive system disorder
0.28
hereditary disease
0.19
polydactyly
0.18
prostate cancer
0.11
non-small cell lung carcinoma
0.09
glioblastoma
0.09

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

Protein function (UniProt)

Kunitz-type protease inhibitor 2

Inhibitor of HGFAC (PubMed:9346890). Also inhibits plasmin, and plasma and tissue kallikrein (PubMed:9115294). Inhibits serine protease activity of TMPRSS13 (PubMed:20977675, PubMed:28710277). Inhibits serine protease activity of ST14/matriptase and PRSS8/prostasin in vitro (PubMed:28710277, PubMed:30445423)