Gene Gene information from NCBI Gene database.
Entrez ID 64854
Gene name Ubiquitin specific peptidase 46
Gene symbol USP46
Synonyms (NCBI Gene)
-
Chromosome 4
Chromosome location 4q12
Summary Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of cysteine proteases that function as
miRNA miRNA information provided by mirtarbase database.
906
miRTarBase ID miRNA Experiments Reference
MIRT019851 hsa-miR-375 Microarray 20215506
MIRT020484 hsa-miR-106b-5p Microarray 17242205
MIRT038649 hsa-miR-140-3p CLASH 23622248
MIRT553000 hsa-miR-338-5p PAR-CLIP 21572407
MIRT552999 hsa-miR-3065-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001662 Process Behavioral fear response IEA
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 14715245, 19075014
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005515 Function Protein binding IPI 19075014, 19615732, 20147737, 32296183, 32814053, 33844468, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612849 20075 ENSG00000109189
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P62068
Protein name Ubiquitin carboxyl-terminal hydrolase 46 (EC 3.4.19.12) (Deubiquitinating enzyme 46) (Ubiquitin thioesterase 46) (Ubiquitin-specific-processing protease 46)
Protein function Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by mediating the deubiquitination of GAD1/GAD67 (By similarity). Has almost no deubiquitinating activity by itself and requires the interaction wi
PDB 5CVM , 5CVN , 5CVO , 5L8H , 6JLQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 35 362 Ubiquitin carboxyl-terminal hydrolase Family
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:14715245}.
Sequence
Sequence length 366
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA 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
Bipolar Disorder Bipolar Disorder BEFREE 20111060
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 20111060
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 38176460 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31542232 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31542232 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33029497 Associate
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 30415951
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 22391563
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 22391563
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 33029497 Inhibit
★☆☆☆☆
Found in Text Mining only