HAI-2/SPINT2 (SPINT2) Active Protein

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. [provided by RefSeq, Oct 2009]

SPINT2: Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa. Defects in SPINT2 are the cause of diarrhea type 3 (DIAR3); also known as congenital sodium diarrhea (CSD). DIAR3 is a rare, inherited diarrhea of infancy. A diagnosis of DIAR3 is made on the findings of a life-threatening secretory diarrhea, severe metabolic acidosis, and hyponatremia secondary to extraordinarily high fecal losses of sodium, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune, and endocrine causes. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Inhibitor; Membrane protein, integral

Chromosomal Location of Human Ortholog: 19q13.1

Cellular Component: cytoplasm; extracellular region

Molecular Function: endopeptidase inhibitor activity; serine-type endopeptidase inhibitor activity

Biological Process: cell motility; negative regulation of cell-cell adhesion

Disease: Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies