Gene Symbol | SPINT2 |
Entrez Gene ID | 10653 |
Full Name | serine peptidase inhibitor, Kunitz type 2 |
Synonyms | DIAR3,HAI-2,HAI2,Kop,PB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Diarrhea 3, secretory sodium, congenital, syndromic, 270420 (3) |