Tripeptidyl peptidase II

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]

TPP2
Identifiers
Aliases	TPP2, TPP-2, TPPII, Tripeptidyl peptidase II, tripeptidyl peptidase 2, TPP-II, IMD78
External IDs	OMIM: 190470; MGI: 102724; HomoloGene: 2471; GeneCards: TPP2; OMA:TPP2 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q33.1 Start 102,596,986 bp[1] End 102,679,958 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 C1.1|1 23.5 cM Start 43,972,807 bp[2] End 44,042,160 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis sperm Achilles tendon epithelium of colon monocyte rectum testicle muscle of thigh right uterine tube Top expressed in spermatid spermatocyte seminiferous tubule tail of embryo esophagus mandibular prominence maxillary prominence atrioventricular valve gastrula Gonadal ridge More reference expression data BioGPS More reference expression data
Gene ontology Molecular function tripeptidyl-peptidase activity peptidase activity endopeptidase activity serine-type peptidase activity protein binding hydrolase activity aminopeptidase activity serine-type endopeptidase activity identical protein binding Cellular component nucleus nucleoplasm cytoplasm cytosol nuclear body Biological process protein polyubiquitination proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7174 22019 Ensembl ENSG00000134900 ENSMUSG00000041763 UniProt P29144 Q64514 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 Mb Chr 1: 43.97 – 44.04 Mb PubMed search [3] [4]
Wikidata
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Clinical significance and genetic deficiency

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.