ST14 Chromosome 11
ST14 transmembrane serine protease matriptase
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What This Gene Does
The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Type II transmembrane serine proteases
Locus Type
gene with protein product
Location
11q24.3
Ensembl
ENSG00000149418
Associated Conditions (4)
ST14-related disorder
Inborn genetic diseases
Autosomal recessive congenital ichthyosis 11
Ichthyosis
Key Variants
RS150984123
Conflicting classifications of pathogenicity
Health Risk
RS191404689
Conflicting classifications of pathogenicity
ST14-related disorder, ST14-related disorder
Health Risk
RS755336812
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1591892666
Likely pathogenic
Health Risk
RS1953258238
Likely pathogenic
Health Risk
RS1953368935
Likely pathogenic
Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
Health Risk
RS2136211819
Likely pathogenic
Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
Health Risk
RS587777262
Likely pathogenic
Autosomal recessive congenital ichthyosis 11, Ichthyosis, Autosomal recessive congenital ichthyosis 11
Health Risk
RS137852931
Pathogenic
Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
Health Risk
RS137852932
Pathogenic
Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11
Health Risk
RS2540752137
Pathogenic
Health Risk
RS2540755180
Pathogenic
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150984123 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191404689 | Health Risk | Conflicting classifications of pathogenicity | ST14-related disorder, ST14-related disorder |
| RS755336812 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1591892666 | Health Risk | Likely pathogenic | — |
| RS1953258238 | Health Risk | Likely pathogenic | — |
| RS1953368935 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11 |
| RS2136211819 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11 |
| RS587777262 | Health Risk | Likely pathogenic | Autosomal recessive congenital ichthyosis 11, Ichthyosis, Autosomal recessive congenital ichthyosis 11 |
| RS137852931 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11 |
| RS137852932 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11 |
| RS2540752137 | Health Risk | Pathogenic | — |
| RS2540755180 | Health Risk | Pathogenic | — |
| RS2540758398 | Health Risk | Pathogenic | — |
| RS587777263 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11 |