Aliases for SPINT2 Gene
External Ids for SPINT2 Gene
Previous GeneCards Identifiers for SPINT2 Gene
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]
GeneCards Summary for SPINT2 Gene
SPINT2 (Serine Peptidase Inhibitor, Kunitz Type, 2) is a Protein Coding gene. Diseases associated with SPINT2 include Diarrhea 3, Secretory Sodium, Congenital, Syndromic and Diarrhea. Among its related pathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and Signaling by MST1. GO annotations related to this gene include serine-type endopeptidase inhibitor activity and endopeptidase inhibitor activity. An important paralog of this gene is TFPI.
UniProtKB/Swiss-Prot for SPINT2 Gene
Inhibitor of HGF activator. Also inhibits plasmin, plasma and tissue kallikrein, and factor XIa.