TMPRSS15 Chromosome 21
Transmembrane serine protease 15
Upload your DNA to see your personal genotypes for variants in TMPRSS15.
What This Gene Does
This gene encodes an enzyme that converts the pancreatic proenzyme trypsinogen to trypsin, which activates other proenzymes including chymotrypsinogen and procarboxypeptidases. The precursor protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. This protein is a member of the trypsin family of peptidases. Mutations in this gene cause enterokinase deficiency, a malabsorption disorder characterized by diarrhea and failure to thrive. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Scavenger receptor cysteine rich domain containing|Type II transmembrane serine proteases"
Locus Type
gene with protein product
Location
21q21.1
Ensembl
ENSG00000154646
Associated Conditions (2)
Enterokinase deficiency
TMPRSS15-related disorder
Key Variants
RS1002563490
Conflicting classifications of pathogenicity
Enterokinase deficiency, Enterokinase deficiency
Health Risk
RS1284864421
Conflicting classifications of pathogenicity
Enterokinase deficiency, Enterokinase deficiency
Health Risk
RS139992374
Conflicting classifications of pathogenicity
Health Risk
RS142737041
Conflicting classifications of pathogenicity
Health Risk
RS200483285
Conflicting classifications of pathogenicity
Health Risk
RS201542054
Conflicting classifications of pathogenicity
Enterokinase deficiency, Enterokinase deficiency
Health Risk
RS375777008
Conflicting classifications of pathogenicity
Health Risk
RS543871957
Conflicting classifications of pathogenicity
Health Risk
RS61735772
Conflicting classifications of pathogenicity
Enterokinase deficiency, Enterokinase deficiency
Health Risk
RS750285967
Conflicting classifications of pathogenicity
Health Risk
RS762171433
Conflicting classifications of pathogenicity
Health Risk
RS769853972
Conflicting classifications of pathogenicity
Enterokinase deficiency, Enterokinase deficiency
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1002563490 | Health Risk | Conflicting classifications of pathogenicity | Enterokinase deficiency, Enterokinase deficiency |
| RS1284864421 | Health Risk | Conflicting classifications of pathogenicity | Enterokinase deficiency, Enterokinase deficiency |
| RS139992374 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142737041 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200483285 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201542054 | Health Risk | Conflicting classifications of pathogenicity | Enterokinase deficiency, Enterokinase deficiency |
| RS375777008 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS543871957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61735772 | Health Risk | Conflicting classifications of pathogenicity | Enterokinase deficiency, Enterokinase deficiency |
| RS750285967 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS762171433 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769853972 | Health Risk | Conflicting classifications of pathogenicity | Enterokinase deficiency, Enterokinase deficiency |
| RS78070123 | Health Risk | Conflicting classifications of pathogenicity | TMPRSS15-related disorder, TMPRSS15-related disorder |
| RS1389176938 | Health Risk | Likely pathogenic | TMPRSS15-related disorder, TMPRSS15-related disorder |
| RS143432711 | Health Risk | Likely pathogenic | — |
| RS1555909961 | Health Risk | Likely pathogenic | Enterokinase deficiency, Enterokinase deficiency |
| RS2516804323 | Health Risk | Likely pathogenic | — |
| RS2516852776 | Health Risk | Likely pathogenic | — |
| RS376129645 | Health Risk | Likely pathogenic | Enterokinase deficiency, Enterokinase deficiency |
| RS543669116 | Health Risk | Likely pathogenic | — |
| RS753574461 | Health Risk | Likely pathogenic | TMPRSS15-related disorder, Enterokinase deficiency, TMPRSS15-related disorder |
| RS757525993 | Health Risk | Likely pathogenic | — |
| RS766036459 | Health Risk | Likely pathogenic | — |
| RS893800197 | Health Risk | Likely pathogenic | — |
| RS1158375704 | Health Risk | Pathogenic | — |
| RS121908059 | Health Risk | Pathogenic | Enterokinase deficiency, Enterokinase deficiency |
| RS121908060 | Health Risk | Pathogenic | Enterokinase deficiency, Enterokinase deficiency |
| RS1228690395 | Health Risk | Pathogenic | — |
| RS1372720610 | Health Risk | Pathogenic | — |
| RS1481119745 | Health Risk | Pathogenic | — |
| RS2074694480 | Health Risk | Pathogenic | — |
| RS2075320961 | Health Risk | Pathogenic | — |
| RS2075445039 | Health Risk | Pathogenic | — |
| RS2075473390 | Health Risk | Pathogenic | — |
| RS2146856395 | Health Risk | Pathogenic | Enterokinase deficiency, Enterokinase deficiency |
| RS2516551572 | Health Risk | Pathogenic | — |
| RS2516611123 | Health Risk | Pathogenic | — |
| RS2516620514 | Health Risk | Pathogenic | — |
| RS2516670592 | Health Risk | Pathogenic | — |
| RS2516694284 | Health Risk | Pathogenic | — |
| RS2516785650 | Health Risk | Pathogenic | — |
| RS2516785904 | Health Risk | Pathogenic | — |
| RS2516786188 | Health Risk | Pathogenic | — |
| RS752625731 | Health Risk | Pathogenic | — |
| RS753168111 | Health Risk | Pathogenic | — |
| RS755553149 | Health Risk | Pathogenic | — |
| RS763761460 | Health Risk | Pathogenic | — |
| RS767441640 | Health Risk | Pathogenic | — |
| RS77200626 | Health Risk | Pathogenic | Enterokinase deficiency, Enterokinase deficiency |
| RS775202094 | Health Risk | Pathogenic | — |