Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7174
Gene name Gene Name - the full gene name approved by the HGNC.
Tripeptidyl peptidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPP2
Synonyms (NCBI Gene) Gene synonyms aliases
IMD78, TPP-2, TPP-II, TPPII
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD78
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 ma
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1566356753 G>C Likely-pathogenic Splice donor variant
rs1595184407 ->A Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs1595188566 C>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020939 hsa-miR-155-5p Proteomics 18668040
MIRT032480 hsa-let-7b-5p Proteomics 18668040
MIRT1450038 hsa-miR-1207-5p CLIP-seq
MIRT1450039 hsa-miR-1299 CLIP-seq
MIRT1450040 hsa-miR-3646 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0004175 Function Endopeptidase activity TAS 9974389
GO:0004177 Function Aminopeptidase activity IEA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 25416956, 25910212, 31515488
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190470 12016 ENSG00000134900
Protein
UniProt ID P29144
Protein name Tripeptidyl-peptidase 2 (TPP-2) (EC 3.4.14.10) (Tripeptidyl aminopeptidase) (Tripeptidyl-peptidase II) (TPP-II)
Protein function Cytosolic tripeptidyl-peptidase that releases N-terminal tripeptides from polypeptides and is a component of the proteolytic cascade acting downstream of the 26S proteasome in the ubiquitin-proteasome pathway (PubMed:25525876, PubMed:30533531).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00082 Peptidase_S8 35 500 Subtilase family Domain
PF12580 TPPII 777 964 Tripeptidyl peptidase II Family
Sequence
MATAATEEPFPFHGLLPKKETGAASFLCRYPEYDGRGVLIAVLDTGVDPGAPGMQVTTDG
KPKIVDIIDTTGSGDVNTATEVEPKDGEIVGLSGRVLKIPASWTNPSGKYHIGIKNGYDF
YPKALKERIQKERKEKIWDPVHRVALAEACRKQEEFDVANNGSSQANKLIKEELQSQVEL
LNSFEKKYSDPGPVYDCLVWHDGEVWRACIDSNEDGDLSKSTVLRNYKEAQEYGSFGTAE
MLNYSVNIYDDGNLLSIVTSGGAHGTHVASIAAGHFPEEPERNGVAPGAQILSIKIGDTR
LSTMETGTGLIRAMIEVINHKCDLVNYSYGEATHWPNSGRICEVINEAVWKHNIIYVSSA
GNNGPCLSTVGCPGGTTSSVIGVGAYVSPDMMVAEYSLREKLPANQYTWSSRGPSADGAL
GVSISAPGGAIASVPNWTLRGTQLMNGTSMSSPNACGGIALILSGLKANNIDYTVHSVRR
ALENTAVKADNIEVFAQGHG
IIQVDKAYDYLVQNTSFANKLGFTVTVGNNRGIYLRDPVQ
VAAPSDHGVGIEPVFPENTENSEKISLQLHLALTSNSSWVQCPSHLELMNQCRHINIRVD
PRGLREGLHYTEVCGYDIASPNAGPLFRVPITAVIAAKVNESSHYDLAFTDVHFKPGQIR
RHFIEVPEGATWAEVTVCSCSSEVSAKFVLHAVQLVKQRAYRSHEFYKFCSLPEKGTLTE
AFPVLGGKAIEFCIARWWASLSDVNIDYTISFHGIVCTAPQLNIHASEGINRFDVQSSLK
YEDLAPCITLKNWVQTLRPVSAKTKPLGSRDVLPNNRQLYEMVLTYNFHQPKSGEVTPSC
PLLCELLYESEFDSQLWIIFDQNKRQMGSGDAYPHQYSLKLEKGDYTIRLQIRHEQISDL
ERLKDLPFIVSHRLSNTLSLDIHENHSFALLGKKKSSNLTLPPKYNQPFFVTSLPDDKIP
KGAG
PGCYLAGSLTLSKTELGKKADVIPVHYYLIPPPTKTKNGSKDKEKDSEKEKDLKEE
FTEALRDLKIQWMTKLDSSDIYNELKETYPNYLPLYVARLHQLDAEKERMKRLNEIVDAA
NAVISHIDQTALAVYIAMKTDPRPDAATIKNDMDKQKSTLVDALCRKGCALADHLLHTQA
QDGAISTDAEGKEEEGESPLDSLAETFWETTKWTDLFDNKVLTFAYKHALVNKMYGRGLK
FATKLVEEKPTKENWKNCIQLMKLLGWTHCASFTENWLPIMYPPDYCVF
Sequence length 1249
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Otitis media Recurrent otitis media ClinVar
Immunodeficiency immunodeficiency 78 with autoimmunity and developmental delay GenCC
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 38057344
Colonic Neoplasms Stimulate 19000094
Neoplasm Metastasis Associate 38057344
Primary Immunodeficiency Diseases Associate 38644452