SPINT2

This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene.

serine peptidase inhibitor, Kunitz type, 2

Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa.

Biological Process basement membrane organizationIEA:Ensembl
Biological Process cellular response to BMP stimulusIEA:Ensembl
Biological Process epithelial cell morphogenesis involved in placental branchingIEA:Ensembl
Biological Process establishment or maintenance of cell polarityIEA:Ensembl
Biological Process negative regulation of cell motilityManual Assertion Based On ExperimentIDA:MGI
Biological Process negative regulation of cell-cell adhesionManual Assertion Based On ExperimentIDA:MGI
Biological Process negative regulation of neural precursor cell proliferationIEA:Ensembl
Biological Process neural tube closureIEA:Ensembl

Membrane

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.

Extracellular: 28-197
Helical: 198-218
Cytoplasmic: 219-252