HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TPP2
tripeptidyl peptidase 2
Chromosome 13 Β· 13q33.1
NCBI Gene: 7174Ensembl: ENSG00000134900.13HGNC: HGNC:12016UniProt: P29144
99PubMed Papers
21Diseases
0Drugs
19Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedProtease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingaminopeptidase activitynuclear bodyprotein bindingimmunodeficiency 78 with autoimmunity and developmental delayEvans syndromeneurodegenerative diseaseAutoimmunity
✦AI Summary

TPP2 (tripeptidyl peptidase 2) is a cytosolic exopeptidase that cleaves N-terminal tripeptides from polypeptides, functioning as a component of the proteolytic cascade downstream of the 26S proteasome 1. It plays a crucial role in intracellular amino acid homeostasis 1 and maintains calcium and phospholipid homeostasis in the central nervous system 2. Mechanistically, TPP2 operates through a 'molecular ruler mechanism' to remove tripeptides from free amino termini 3. Beyond proteasomal protein degradation, TPP2 is involved in HLA/antigen complex processing 4 and influences cell survival, with overexpression promoting cell growth and apoptosis resistance, while inhibition increases apoptotic sensitivity 3. Clinically, TPP2 deficiency manifests as Immunodeficiency 78 with autoimmunity and developmental delay 5. Biallelic TPP2 variants cause severe immune dysregulation (immunodeficiency with autoimmunity), intellectual disability, and autoimmune cytopenias 4. Additionally, certain TPP2 missense mutations are associated with sterile brain inflammation mimicking multiple sclerosis 6. TPP2 deficiency requires urgent clinical recognition for immune surveillance and potential hematopoietic stem cell transplantation consideration 4.

Sources cited
1
TPP2 functions downstream of the 26S proteasome and is essential for intracellular amino acid homeostasis
PMID: 25525876
2
TPP2 coordinates calcium and lipid homeostasis in the CNS; its depletion causes presenile dementia in female mice
PMID: 38389851
3
TPP2 removes tripeptides through a molecular ruler mechanism; overexpression promotes cell growth and apoptosis resistance
PMID: 31108122
4
Biallelic TPP2 variants cause immune deficiency with autoimmunity, intellectual disability, and autoimmune cytopenias
PMID: 33586135
5
Homozygous TPP2 missense mutations are associated with sterile brain inflammation mimicking multiple sclerosis
PMID: 30533531
6
TPP2 deficiency is associated with autoimmune lymphoproliferative phenotype and classified as a primary immune regulatory disorder
PMID: 34447369
Disease Associationsβ“˜21
immunodeficiency 78 with autoimmunity and developmental delayOpen Targets
0.77Strong
Evans syndromeOpen Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
AutoimmunityOpen Targets
0.37Weak
developmental disabilityOpen Targets
0.37Weak
Recurrent upper respiratory tract infectionsOpen Targets
0.33Weak
Acute otitis mediaOpen Targets
0.33Weak
Cutis marmorataOpen Targets
0.33Weak
Global developmental delayOpen Targets
0.33Weak
Recurrent lower respiratory tract infectionsOpen Targets
0.33Weak
ThrombocytopeniaOpen Targets
0.33Weak
atrial fibrillationOpen Targets
0.30Weak
alopecia areataOpen Targets
0.27Weak
congenital anomaly of cardiovascular systemOpen Targets
0.25Weak
Abruptio PlacentaeOpen Targets
0.23Weak
endocarditisOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
Abnormal cerebral white matter morphologyOpen Targets
0.18Weak
sialolithiasisOpen Targets
0.18Weak
glomerulonephritisOpen Targets
0.18Weak
Immunodeficiency 78 with autoimmunity and developmental delayUniProt
Pathogenic Variants19
NM_001330588.2(TPP2):c.1066del (p.Tyr356fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2026β†’ Residue 356
NM_001330588.2(TPP2):c.2952+1G>CLikely pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2025
NM_001330588.2(TPP2):c.3466_3467del (p.Gly1156fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2025β†’ Residue 1156
NM_001330588.2(TPP2):c.2563C>T (p.Gln855Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2024β†’ Residue 855
NM_001330588.2(TPP2):c.3012del (p.Tyr1005fs)Likely pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
β˜…β˜†β˜†β˜†2024β†’ Residue 1005
NM_001330588.2(TPP2):c.1320_1321del (p.Gly441fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 441
NM_001330588.2(TPP2):c.3071C>G (p.Ser1024Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 1024
NM_001330588.2(TPP2):c.3244C>T (p.Arg1082Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2023β†’ Residue 1082
NM_001330588.2(TPP2):c.1844dup (p.Tyr616fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 616
NM_001330588.2(TPP2):c.2420T>G (p.Leu807Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 807
NM_001330588.2(TPP2):c.2665C>T (p.Arg889Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 889
NM_001330588.2(TPP2):c.2619T>G (p.Tyr873Ter)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2022β†’ Residue 873
NM_001330588.2(TPP2):c.2873+1G>ALikely pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2021
NM_001330588.2(TPP2):c.2433_2434insA (p.Val812fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2018β†’ Residue 812
NM_001330588.2(TPP2):c.2843del (p.Pro948fs)Pathogenic
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
β˜…β˜†β˜†β˜†2018β†’ Residue 948
NM_001330588.2(TPP2):c.2394-550_2952+659delPathogenic
7 conditions|Immunodeficiency 78 with autoimmunity and developmental delay
β˜†β˜†β˜†β˜†2021
NM_001330588.2(TPP2):c.2343C>G (p.Tyr781Ter)Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 781
NM_001330588.2(TPP2):c.1499G>A (p.Gly500Asp)Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
β˜†β˜†β˜†β˜†2021β†’ Residue 500
NM_001330588.2(TPP2):c.433del (p.Ala145fs)Pathogenic
Immunodeficiency 78 with autoimmunity and developmental delay
β˜†β˜†β˜†β˜†2015β†’ Residue 145
View on ClinVar β†—
Related Genes
THOP1Shared pathway100%ERAP2Protein interaction91%ERAP1Protein interaction87%POLBProtein interaction74%BLMHShared pathway67%PGA4Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
51%
Lung
48%
Liver
47%
Ovary
46%
Brain
31%
Gene Interaction Network
Click a node to explore
TPP2THOP1ERAP2ERAP1POLBBLMHPGA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P29144
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.29Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.15–0.29]
RankingsWhere TPP2 stands among ~20K protein-coding genes
  • #4,862of 20,598
    Most Researched99 Β· top quartile
  • #2,234of 5,498
    Most Pathogenic Variants19
  • #1,066of 17,882
    Most Constrained (LOEUF)0.29 Β· top 10%
Genes detectedTPP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
PMID: 34447369
Front Immunol Β· 2021
1.00
2
Tripeptidyl peptidase II coordinates the homeostasis of calcium and lipids in the central nervous system and its depletion causes presenile dementia in female mice through calcium/lipid dyshomeostasis-induced autophagic degradation of CYP19A1.
PMID: 38389851
Theranostics Β· 2024
0.90
3
Identification of multiple organ metastasis-associated hub mRNA/miRNA signatures in non-small cell lung cancer.
PMID: 38057344
Cell Death Dis Β· 2023
0.80
4
Localization of the human tripeptidyl peptidase II gene (TPP2) to 13q32-q33 by nonradioactive in situ hybridization and somatic cell hybrids.
PMID: 8406500
Genomics Β· 1993
0.70
5
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
PMID: 33586135
Clin Genet Β· 2021
0.60