Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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7174 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Tripeptidyl peptidase 2 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TPP2 |
SynonymsGene synonyms aliases
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IMD78, TPP-2, TPP-II, TPPII |
ChromosomeChromosome number
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13 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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13q33.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
1249 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Autoimmune hemolytic anemia |
Autoimmune hemolytic anemia |
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Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome |
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome |
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Evans syndrome |
Evans syndrome |
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25525876 |
Immune thrombocytopenic purpura |
Immune thrombocytopenic purpura |
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Lupus erythematosus |
Lupus Erythematosus, Systemic |
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Lymphopenia |
Lymphopenia |
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Otitis media |
Recurrent otitis media |
rs601338, rs1047781, rs1800028 |
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Stroke |
Cerebrovascular accident |
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