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Tripeptidyl peptidase II

From Wikipedia, the free encyclopedia
TPP2
Identifiers
AliasesTPP2, TPP-2, TPPII, Tripeptidyl peptidase II, tripeptidyl peptidase 2, TPP-II, IMD78
External IDsOMIM: 190470; MGI: 102724; HomoloGene: 2471; GeneCards: TPP2; OMA:TPP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003291
NM_001330588
NM_001367947

NM_009418
NM_001310540

RefSeq (protein)

NP_001317517
NP_003282
NP_001354876

NP_001297469
NP_033444

Location (UCSC)Chr 13: 102.6 – 102.68 MbChr 1: 43.97 – 44.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Tripeptidyl-peptidase 2 is an enzyme that in humans is encoded by the TPP2 gene.[5][6] Among other things it is heavily implicated in MHC (HLA) class-I processing, as it has both endopeptidase and exopeptidase activity.[7]

Clinical significance and genetic deficiency

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Biallelic deleterious variants in the TPP2 gene may result in a recessive disorder with immune deficiency, autoimmune disease and intellectual disability.[8][9] Some genetic variants may result in a milder disease with sterile brain inflammation mimicking multiple sclerosis.[10] These observations underline the fundamental role of TPP2 in cells of the immune system.

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000134900Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041763Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Tomkinson B, Jonsson AK (January 1991). "Characterization of cDNA for human tripeptidyl peptidase II: the N-terminal part of the enzyme is similar to subtilisin". Biochemistry. 30 (1): 168–174. doi:10.1021/bi00215a025. PMID 1670990.
  6. ^ "Entrez Gene: TPP2 tripeptidyl peptidase II".
  7. ^ Reits E, Neijssen J, Herberts C, Benckhuijsen W, Janssen L, Drijfhout JW, Neefjes J (April 2004). "A major role for TPPII in trimming proteasomal degradation products for MHC class I antigen presentation". Immunity. 20 (4): 495–506. doi:10.1016/S1074-7613(04)00074-3. PMID 15084277.
  8. ^ Lu W, Zhang Y, McDonald DO, Jing H, Carroll B, Robertson N, et al. (December 2014). "Dual proteolytic pathways govern glycolysis and immune competence". Cell. 159 (7): 1578–1590. doi:10.1016/j.cell.2014.12.001. PMC 4297473. PMID 25525876.
  9. ^ Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, et al. (June 2021). "Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene". Clinical Genetics. 99 (6): 780–788. doi:10.1111/cge.13942. PMID 33586135. S2CID 231926886.
  10. ^ Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, et al. (December 2018). "TPP2 mutation associated with sterile brain inflammation mimicking MS". Neurology. Genetics. 4 (6): e285. doi:10.1212/NXG.0000000000000285. PMC 6244017. PMID 30533531.
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  • The MEROPS online database for peptidases and their inhibitors: S08.090

Further reading

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