SPINT2
Domain
This inhibitor contains two inhibitory domains.
Function
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).
Involvement in disease
Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies
DIAR3
A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed in placenta, kidney, pancreas, prostate, testis, thymus, and trachea.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cytoplasm
Alternative names
HAI2, KOP, SPINT2, Kunitz-type protease inhibitor 2, Hepatocyte growth factor activator inhibitor type 2, Placental bikunin, HAI-2