Gene: SPINT2

Alternate names for this Gene: DIAR3|HAI-2|HAI2|Kop|PB

Gene 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: serine peptidase inhibitor, Kunitz type 2

Type of Gene: protein-coding

rs121908403 in SPINT2 gene and Congenital secretory diarrhea, sodium type (disorder) PMID 19185281 2009 Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

rs11667256 in SPINT2 gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs8102476 in SPINT2 gene and Malignant neoplasm of prostate PMID 19767754 2009 Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.

rs8102476 in SPINT2 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs12608697 in SPINT2 gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs8102476 in SPINT2 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

PMID 19767754 2009 Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility.