Gene Gene information from NCBI Gene database.
Entrez ID 64750
Gene name SMAD specific E3 ubiquitin protein ligase 2
Gene symbol SMURF2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q23.3-q24.1
miRNA miRNA information provided by mirtarbase database.
194
miRTarBase ID miRNA Experiments Reference
MIRT023400 hsa-miR-122-5p Microarray 17612493
MIRT031987 hsa-miR-16-5p Microarray 21199864
MIRT653292 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT653291 hsa-miR-764 HITS-CLIP 23824327
MIRT653290 hsa-miR-3934-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0000151 Component Ubiquitin ligase complex IDA 14755250
GO:0004842 Function Ubiquitin-protein transferase activity IDA 14755250
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605532 16809 ENSG00000108854
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAU4
Protein name E3 ubiquitin-protein ligase SMURF2 (hSMURF2) (EC 2.3.2.26) (HECT-type E3 ubiquitin transferase SMURF2) (SMAD ubiquitination regulatory factor 2) (SMAD-specific E3 ubiquitin-protein ligase 2)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11016919). Interacts with SMAD7 to trigger SMAD7-medi
PDB 1ZVD , 2DJY , 2JQZ , 2KXQ , 2LTZ , 6FX4 , 7M3Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00168 C2 12 114 C2 domain Domain
PF00397 WW 159 188 WW domain Domain
PF00397 WW 253 282 WW domain Domain
PF00397 WW 299 328 WW domain Domain
PF00632 HECT 443 748 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence
Sequence length 748
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
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
Aortic Valve Calcification of Aortic valve disease Pubtator 28377507 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 34749662 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 24121673
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 25051198
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 14562029, 18927080, 24485087, 27136586, 28423498, 29534682, 30244169, 31003445, 31456194
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18927080, 19155312, 27136586, 28423498, 29534682 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24485087 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37828084 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 18181147
★☆☆☆☆
Found in Text Mining only
Carcinoma Ductal Ductal carcinoma Pubtator 24485087 Inhibit
★☆☆☆☆
Found in Text Mining only