Gene Gene information from NCBI Gene database.
Entrez ID 10713
Gene name Ubiquitin specific peptidase 39
Gene symbol USP39
Synonyms (NCBI Gene)
65KCGI-21HSPC332SAD1SNRNP65
Chromosome 2
Chromosome location 2p11.2
miRNA miRNA information provided by mirtarbase database.
95
miRTarBase ID miRNA Experiments Reference
MIRT016575 hsa-miR-193b-3p Microarray 20304954
MIRT1479604 hsa-miR-1252 CLIP-seq
MIRT1479605 hsa-miR-3202 CLIP-seq
MIRT1479606 hsa-miR-4533 CLIP-seq
MIRT2658435 hsa-miR-1226 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly IBA
GO:0000245 Process Spliceosomal complex assembly IEA
GO:0000245 Process Spliceosomal complex assembly IMP 11350945
GO:0000245 Process Spliceosomal complex assembly TAS 10022888
GO:0000398 Process MRNA splicing, via spliceosome IDA 11350945
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611594 20071 ENSG00000168883
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53GS9
Protein name Ubiquitin carboxyl-terminal hydrolase 39 (EC 3.4.19.12) (SAD1 homolog) (U4/U6.U5 tri-snRNP-associated 65 kDa protein)
Protein function Deubiquitinating enzyme that plays a role in many cellular processes including cellular antiviral response, epithelial morphogenesis, DNA repair or B-cell development (PubMed:33127822, PubMed:34614178). Plays a role in pre-mRNA splicing as a com
PDB 3JCR , 6AH0 , 6QW6 , 6QX9 , 8H6E , 8H6J , 8QOZ , 8QP8 , 8QP9 , 8QPA , 8QPB , 8QPE , 8QPK , 8QXD , 8QZS , 8R08 , 8R09 , 8R0A , 8R0B , 8RM5 , 8Y6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02148 zf-UBP 123 186 Zn-finger in ubiquitin-hydrolases and other protein Domain
PF00443 UCH 225 552 Ubiquitin carboxyl-terminal hydrolase Family
Sequence
Sequence length 565
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Spliceosome   mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 24126978, 30675193
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25889525 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 25889525, 34197957 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25889525, 34197957, 35748266, 36707504 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27629785, 30675193
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 36582601 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 37957720 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31180526, 31637536
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28259917, 29556295
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29328477
★☆☆☆☆
Found in Text Mining only