Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7174
Gene name	Tripeptidyl peptidase 2
Gene symbol	TPP2
Synonyms (NCBI Gene)	IMD78TPP-2TPP-IITPPII
Chromosome	13
Chromosome location	13q33.1
Summary	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

Show/Hide all (3)

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

112

Show/Hide all (112)

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
MIRT1450041	hsa-miR-4514	CLIP-seq
MIRT1450042	hsa-miR-4652-3p	CLIP-seq
MIRT1450043	hsa-miR-4670-3p	CLIP-seq
MIRT1450044	hsa-miR-4692	CLIP-seq
MIRT1450045	hsa-miR-4736	CLIP-seq
MIRT1450046	hsa-miR-4763-3p	CLIP-seq
MIRT1450047	hsa-miR-4782-5p	CLIP-seq
MIRT1450048	hsa-miR-516b	CLIP-seq
MIRT1450049	hsa-miR-875-3p	CLIP-seq
MIRT1450050	hsa-miR-940	CLIP-seq
MIRT2134520	hsa-miR-1265	CLIP-seq
MIRT2134521	hsa-miR-1298	CLIP-seq
MIRT2134522	hsa-miR-3144-3p	CLIP-seq
MIRT2134523	hsa-miR-3163	CLIP-seq
MIRT2134524	hsa-miR-3194-3p	CLIP-seq
MIRT2134525	hsa-miR-335	CLIP-seq
MIRT2134526	hsa-miR-3605-5p	CLIP-seq
MIRT2134527	hsa-miR-376a	CLIP-seq
MIRT2134528	hsa-miR-376b	CLIP-seq
MIRT2134529	hsa-miR-3941	CLIP-seq
MIRT2134530	hsa-miR-4477a	CLIP-seq
MIRT2134531	hsa-miR-4502	CLIP-seq
MIRT2134532	hsa-miR-4539	CLIP-seq
MIRT2134533	hsa-miR-4643	CLIP-seq
MIRT2134534	hsa-miR-466	CLIP-seq
MIRT2134535	hsa-miR-4666-5p	CLIP-seq
MIRT2134536	hsa-miR-4672	CLIP-seq
MIRT2134537	hsa-miR-4762-3p	CLIP-seq
MIRT2134538	hsa-miR-4777-5p	CLIP-seq
MIRT2134539	hsa-miR-4789-3p	CLIP-seq
MIRT2134540	hsa-miR-630	CLIP-seq
MIRT2134541	hsa-miR-660	CLIP-seq
MIRT2134542	hsa-miR-664	CLIP-seq
MIRT2134521	hsa-miR-1298	CLIP-seq
MIRT2355830	hsa-miR-2681	CLIP-seq
MIRT2355831	hsa-miR-320e	CLIP-seq
MIRT2134527	hsa-miR-376a	CLIP-seq
MIRT2134528	hsa-miR-376b	CLIP-seq
MIRT2134529	hsa-miR-3941	CLIP-seq
MIRT2134531	hsa-miR-4502	CLIP-seq
MIRT2134533	hsa-miR-4643	CLIP-seq
MIRT2134534	hsa-miR-466	CLIP-seq
MIRT2134536	hsa-miR-4672	CLIP-seq
MIRT2355832	hsa-miR-4724-3p	CLIP-seq
MIRT2134537	hsa-miR-4762-3p	CLIP-seq
MIRT2134539	hsa-miR-4789-3p	CLIP-seq
MIRT2355833	hsa-miR-548n	CLIP-seq
MIRT2355834	hsa-miR-548t	CLIP-seq
MIRT2134540	hsa-miR-630	CLIP-seq
MIRT2134542	hsa-miR-664	CLIP-seq
MIRT2134520	hsa-miR-1265	CLIP-seq
MIRT2134521	hsa-miR-1298	CLIP-seq
MIRT2134524	hsa-miR-3194-3p	CLIP-seq
MIRT2134525	hsa-miR-335	CLIP-seq
MIRT2134526	hsa-miR-3605-5p	CLIP-seq
MIRT2396256	hsa-miR-3647-3p	CLIP-seq
MIRT2134527	hsa-miR-376a	CLIP-seq
MIRT2134528	hsa-miR-376b	CLIP-seq
MIRT2134531	hsa-miR-4502	CLIP-seq
MIRT2134532	hsa-miR-4539	CLIP-seq
MIRT2134537	hsa-miR-4762-3p	CLIP-seq
MIRT2396257	hsa-miR-4764-5p	CLIP-seq
MIRT2134540	hsa-miR-630	CLIP-seq
MIRT2134542	hsa-miR-664	CLIP-seq
MIRT2649356	hsa-miR-138	CLIP-seq
MIRT2649357	hsa-miR-2113	CLIP-seq
MIRT2649358	hsa-miR-218	CLIP-seq
MIRT2649359	hsa-miR-30a	CLIP-seq
MIRT2649360	hsa-miR-30b	CLIP-seq
MIRT2649361	hsa-miR-30c	CLIP-seq
MIRT2649362	hsa-miR-30d	CLIP-seq
MIRT2649363	hsa-miR-30e	CLIP-seq
MIRT2649364	hsa-miR-3127-3p	CLIP-seq
MIRT2649365	hsa-miR-3679-3p	CLIP-seq
MIRT2649366	hsa-miR-4252	CLIP-seq
MIRT2649367	hsa-miR-4446-5p	CLIP-seq
MIRT2649368	hsa-miR-4495	CLIP-seq
MIRT2649369	hsa-miR-4776-3p	CLIP-seq
MIRT2649370	hsa-miR-579	CLIP-seq
MIRT2134520	hsa-miR-1265	CLIP-seq
MIRT2134521	hsa-miR-1298	CLIP-seq
MIRT2649356	hsa-miR-138	CLIP-seq
MIRT2649357	hsa-miR-2113	CLIP-seq
MIRT2649358	hsa-miR-218	CLIP-seq
MIRT2649364	hsa-miR-3127-3p	CLIP-seq
MIRT2134524	hsa-miR-3194-3p	CLIP-seq
MIRT2134525	hsa-miR-335	CLIP-seq
MIRT2134526	hsa-miR-3605-5p	CLIP-seq
MIRT2396256	hsa-miR-3647-3p	CLIP-seq
MIRT2693982	hsa-miR-3662	CLIP-seq
MIRT2649365	hsa-miR-3679-3p	CLIP-seq
MIRT2134527	hsa-miR-376a	CLIP-seq
MIRT2134528	hsa-miR-376b	CLIP-seq
MIRT2134529	hsa-miR-3941	CLIP-seq
MIRT2649366	hsa-miR-4252	CLIP-seq
MIRT2649367	hsa-miR-4446-5p	CLIP-seq
MIRT2134531	hsa-miR-4502	CLIP-seq
MIRT2134532	hsa-miR-4539	CLIP-seq
MIRT2134533	hsa-miR-4643	CLIP-seq
MIRT2134534	hsa-miR-466	CLIP-seq
MIRT2134536	hsa-miR-4672	CLIP-seq
MIRT2134537	hsa-miR-4762-3p	CLIP-seq
MIRT2396257	hsa-miR-4764-5p	CLIP-seq
MIRT2134539	hsa-miR-4789-3p	CLIP-seq
MIRT2649370	hsa-miR-579	CLIP-seq
MIRT2134540	hsa-miR-630	CLIP-seq
MIRT2134542	hsa-miR-664	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000209	Process	Protein polyubiquitination	TAS
GO:0004175	Function	Endopeptidase activity	TAS	9974389
GO:0004177	Function	Aminopeptidase activity	EXP	9668046, 11062501
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0004177	Function	Aminopeptidase activity	IMP	25525876, 30533531
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 25910212, 31515488
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9974389
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	TAS	9974389
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008238	Function	Exopeptidase activity	IEA
GO:0008240	Function	Tripeptidyl-peptidase activity	IBA
GO:0008240	Function	Tripeptidyl-peptidase activity	IEA
GO:0008240	Function	Tripeptidyl-peptidase activity	TAS	9974389
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	22483107
GO:0080144	Process	Intracellular amino acid homeostasis	IMP	25525876

MIM	HGNC	e!Ensembl
190470	12016	ENSG00000134900

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
ALENTAVKADNIEVFAQGHGIIQVDKAYDYLVQNTSFANKLGFTVTVGNNRGIYLRDPVQ
VAAPSDHGVGIEPVFPENTENSEKISLQLHLALTSNSSWVQCPSHLELMNQCRHINIRVD
PRGLREGLHYTEVCGYDIASPNAGPLFRVPITAVIAAKVNESSHYDLAFTDVHFKPGQIR
RHFIEVPEGATWAEVTVCSCSSEVSAKFVLHAVQLVKQRAYRSHEFYKFCSLPEKGTLTE
AFPVLGGKAIEFCIARWWASLSDVNIDYTISFHGIVCTAPQLNIHASEGINRFDVQSSLK
YEDLAPCITLKNWVQTLRPVSAKTKPLGSRDVLPNNRQLYEMVLTYNFHQPKSGEVTPSC
PLLCELLYESEFDSQLWIIFDQNKRQMGSGDAYPHQYSLKLEKGDYTIRLQIRHEQISDL
ERLKDLPFIVSHRLSNTLSLDIHENHSFALLGKKKSSNLTLPPKYNQPFFVTSLPDDKIP
KGAGPGCYLAGSLTLSKTELGKKADVIPVHYYLIPPPTKTKNGSKDKEKDSEKEKDLKEE
FTEALRDLKIQWMTKLDSSDIYNELKETYPNYLPLYVARLHQLDAEKERMKRLNEIVDAA
NAVISHIDQTALAVYIAMKTDPRPDAATIKNDMDKQKSTLVDALCRKGCALADHLLHTQA
QDGAISTDAEGKEEEGESPLDSLAETFWETTKWTDLFDNKVLTFAYKHALVNKMYGRGLK
FATKLVEEKPTKENWKNCIQLMKLLGWTHCASFTENWLPIMYPPDYCVF

Sequence length

1249

Interactions

View interactions

	Reactome
			Antigen processing: Ubiquitination & Proteasome degradation

637

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	Pathogenic; Likely pathogenic	rs2139537621, rs2139547046, rs1397378666, rs2504031824, rs2503993076, rs1883911620, rs1882201496, rs772169780, rs1566356753, rs1595184407, rs1595188566	RCV001390879 RCV001998176 RCV003110361 RCV003014377 RCV003755478 RCV003755869 RCV003756070 RCV003756094 RCV000707230 RCV000806249 RCV000821135
Immunodeficiency 78 with autoimmunity and developmental delay	Pathogenic	rs1039236504, rs1882325267, rs1880737834	RCV001327995 RCV001327996 RCV001327997

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs1360956464	RCV005925956
Colon adenocarcinoma	Likely benign	rs150615380	RCV005902632
Familial cancer of breast	Benign; Likely benign	rs2274461, rs764336466	RCV005909325 RCV005868592
Hepatocellular carcinoma	Benign	rs4576935, rs664660	RCV005909734 RCV005932738
Lymphoma	Benign	rs2274461	RCV005909328
Malignant lymphoma, large B-cell, diffuse	Benign	rs2274461	RCV005909327
See cases	Uncertain significance	rs1882384267	RCV001196397
TPP2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs145608159, rs373826214, rs2139626228, rs1301850112, rs2503772171, rs200038215, rs2053868, rs115050878, rs141975686, rs200366836, rs149008480, rs150615380, rs147337260, rs752429398	RCV003956042 RCV003966037 RCV003911073 RCV003894405 RCV003961571 RCV003980046 RCV003905479 RCV003905478 RCV003980045 RCV003928570 RCV003918441 RCV003948314 RCV003948388 RCV004757336
Uterine carcinosarcoma	Benign	rs2274461, rs665479	RCV005909329 RCV005932740
Uveal melanoma	Benign	rs2274461	RCV005909326

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Non Small Cell Lung	Associate	38057344
Colonic Neoplasms	Stimulate	19000094
Neoplasm Metastasis	Associate	38057344
Primary Immunodeficiency Diseases	Associate	38644452

TPP2 (tripeptidyl peptidase 2)