SPINT2 Chromosome 19
Serine peptidase inhibitor, Kunitz type 2
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What This Gene Does
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]
Associated Conditions (3)
Inborn genetic diseases
Congenital secretory sodium diarrhea 3
Hepatocellular carcinoma
Key Variants
RS200600070
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1224874674
Likely pathogenic
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
Health Risk
RS1279737892
Likely pathogenic
Health Risk
RS201543656
Likely pathogenic
Health Risk
RS2146278813
Likely pathogenic
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
Health Risk
RS2146278822
Likely pathogenic
Hepatocellular carcinoma, Hepatocellular carcinoma
Health Risk
RS2146279917
Likely pathogenic
Health Risk
RS112576957
Pathogenic
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
Health Risk
RS121908403
Pathogenic
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
Health Risk
RS121908404
Pathogenic
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
Health Risk
RS1968358471
Pathogenic
Health Risk
RS1968606914
Pathogenic
Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200600070 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1224874674 | Health Risk | Likely pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS1279737892 | Health Risk | Likely pathogenic | — |
| RS201543656 | Health Risk | Likely pathogenic | — |
| RS2146278813 | Health Risk | Likely pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS2146278822 | Health Risk | Likely pathogenic | Hepatocellular carcinoma, Hepatocellular carcinoma |
| RS2146279917 | Health Risk | Likely pathogenic | — |
| RS112576957 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS121908403 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS121908404 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS1968358471 | Health Risk | Pathogenic | — |
| RS1968606914 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS606231154 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS606231155 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS606231284 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS780880496 | Health Risk | Pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |
| RS1348196809 | Health Risk | Pathogenic/Likely pathogenic | Congenital secretory sodium diarrhea 3, Congenital secretory sodium diarrhea 3 |