Gene Gene information from NCBI Gene database.
Entrez ID 25862
Gene name Ubiquitin specific peptidase 49
Gene symbol USP49
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6p21.1
miRNA miRNA information provided by mirtarbase database.
144
miRTarBase ID miRNA Experiments Reference
MIRT651829 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT651828 hsa-miR-3127-3p HITS-CLIP 23824327
MIRT651827 hsa-miR-6756-3p HITS-CLIP 23824327
MIRT651825 hsa-miR-5088-3p HITS-CLIP 23824327
MIRT651826 hsa-miR-939-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IMP 23824326
GO:0004197 Function Cysteine-type endopeptidase activity IMP 23824326
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 14715245, 23824326, 28363942
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0004843 Function Cysteine-type deubiquitinase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q70CQ1
Protein name Ubiquitin carboxyl-terminal hydrolase 49 (EC 3.4.19.12) (Deubiquitinating enzyme 49) (Ubiquitin thioesterase 49) (Ubiquitin-specific-processing protease 49)
Protein function Deubiquitinase that plays a role in several cellular processes including transcriptional regulation, cell cycle progression or innate immunity. Specifically deubiquitinates histone H2B at 'Lys-120' (H2BK120Ub), a specific tag for epigenetic tran
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02148 zf-UBP 25 88 Zn-finger in ubiquitin-hydrolases and other protein Domain
PF00443 UCH 253 654 Ubiquitin carboxyl-terminal hydrolase Family
Sequence
Sequence length 688
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ub-specific processing proteases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 18507837
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 28363942
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 31001918
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 31001918
★☆☆☆☆
Found in Text Mining only
Obesity Associate 27421018
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Inhibit 28363942
★☆☆☆☆
Found in Text Mining only
Primary Ovarian Insufficiency Associate 32143396
★☆☆☆☆
Found in Text Mining only
Pulmonary Disease Chronic Obstructive Associate 33116468
★☆☆☆☆
Found in Text Mining only