DESI2 (desumoylating isopeptidase 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51029
Gene name Gene Name - the full gene name approved by the HGNC.
Desumoylating isopeptidase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DESI2
Synonyms (NCBI Gene) Gene synonyms aliases
C1orf121, CGI-146, DESI, DESI1, DeSI-2, FAM152A, PNAS-4, PPPDE1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q44
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT041187 hsa-miR-497-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 28483520
GO:0005515 Function Protein binding IPI 28483520, 32296183
GO:0005737 Component Cytoplasm ISS
GO:0016579 Process Protein deubiquitination IBA 21873635
GO:0018215 Process Protein phosphopantetheinylation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614638 24264 ENSG00000121644
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BSY9
Protein name Deubiquitinase DESI2 (EC 3.4.19.12) (Desumoylating isopeptidase 2) (DeSI-2) (PPPDE peptidase domain-containing protein 1) (Palmitoyl protein thioesterase DESI2) (EC 3.1.2.22) (Protein FAM152A) (S-depalmitoylase DESI2)
Protein function Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization (PubMed:28483520). Exhibits palmitoyl protein thioesterase (S-depal
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05903 Peptidase_C97 5 → 149 PPPDE putative peptidase domain Domain
Sequence
Sequence length 194
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)		 21667029
Show/Hide Text Mining Associations (6)
Associations from Text Mining
Disease Name Relationship Type References
Carcinogenesis Associate 25079376
Carcinoma Pancreatic Ductal Associate 25079376
Lung Neoplasms Associate 25918161
Neoplasms Inhibit 25079376
Pancreatic Neoplasms Inhibit 25079376
Pancreatic Neoplasms Associate 30411297