TPP2 Chromosome 13
Tripeptidyl peptidase 2
Upload your DNA to see your personal genotypes for variants in TPP2.
What This Gene Does
This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Evans syndrome
immunodeficiency
and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Inborn genetic diseases
TPP2-related disorder
Immunodeficiency 78 with autoimmunity and developmental delay
Key Variants
RS141032667
Conflicting classifications of pathogenicity
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS145635131
Conflicting classifications of pathogenicity
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS200366836
Conflicting classifications of pathogenicity
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS368645570
Conflicting classifications of pathogenicity
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS748980441
Conflicting classifications of pathogenicity
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS1419487180
Likely pathogenic
Health Risk
RS1566356753
Likely pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS2139547046
Likely pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS1039236504
Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay
Health Risk
RS1397378666
Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS1595184407
Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
RS1595188566
Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141032667 | Health Risk | Conflicting classifications of pathogenicity | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS145635131 | Health Risk | Conflicting classifications of pathogenicity | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS200366836 | Health Risk | Conflicting classifications of pathogenicity | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS368645570 | Health Risk | Conflicting classifications of pathogenicity | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS748980441 | Health Risk | Conflicting classifications of pathogenicity | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS1419487180 | Health Risk | Likely pathogenic | — |
| RS1566356753 | Health Risk | Likely pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS2139547046 | Health Risk | Likely pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS1039236504 | Health Risk | Pathogenic | Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay |
| RS1397378666 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS1595184407 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS1595188566 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS1880737834 | Health Risk | Pathogenic | Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay |
| RS1882201496 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS1882325267 | Health Risk | Pathogenic | Immunodeficiency 78 with autoimmunity and developmental delay, Immunodeficiency 78 with autoimmunity and developmental delay |
| RS1883911620 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS2139537621 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS2503993076 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS2504031824 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |
| RS772169780 | Health Risk | Pathogenic | Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency |