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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs80215473 RCV005933535
Cervical cancer Benign rs80215473 RCV005933539
Clear cell carcinoma of kidney Benign rs80215473 RCV005933540
Colon adenocarcinoma Benign rs80215473 RCV005933534
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 29405587
Aortic Valve Calcification of Associate 28377507
Asthma Associate 34749662
Breast Neoplasms Associate 18927080, 19155312, 27136586, 28423498, 29534682
Breast Neoplasms Inhibit 24485087
Carcinogenesis Associate 37828084
Carcinoma Ductal Inhibit 24485087
Carcinoma Intraductal Noninfiltrating Associate 24485087
Carcinoma Non Small Cell Lung Associate 35710591
Cardiomyopathy Dilated Associate 25137373