DESI2 (desumoylating isopeptidase 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51029
Gene name Desumoylating isopeptidase 2
Gene symbol DESI2
Synonyms (NCBI Gene)
C1orf121CGI-146DESIDESI1DeSI-2FAM152APNAS-4PPPDE1
Chromosome 1
Chromosome location 1q44
miRNA miRNA information provided by mirtarbase database.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 28483520
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 28483520, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614638 24264 ENSG00000121644
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OVARIAN NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (66)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atrial Fibrillation Atrial Fibrillation BEFREE 28459661
★★★★★
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 24485488
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25366766
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 25079376, 36407085 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19101642
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 25079376 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma BEFREE 29866838
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 19387645, 21667029
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 19387645
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 12537654, 21556770
★★★★★
★☆☆☆☆
Found in Text Mining only