Gene Gene information from NCBI Gene database.
Entrez ID 283514
Gene name Siah E3 ubiquitin protein ligase family member 3
Gene symbol SIAH3
Synonyms (NCBI Gene)
-
Chromosome 13
Chromosome location 13q14.13
miRNA miRNA information provided by mirtarbase database.
120
miRTarBase ID miRNA Experiments Reference
MIRT644104 hsa-miR-5193 HITS-CLIP 23824327
MIRT644103 hsa-miR-4324 HITS-CLIP 23824327
MIRT644102 hsa-miR-544b HITS-CLIP 23824327
MIRT644101 hsa-miR-6734-3p HITS-CLIP 23824327
MIRT644100 hsa-miR-3667-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA 24270810
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615609 30553 ENSG00000215475
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IW03
Protein name Seven in absentia homolog 3 (Siah-3)
Protein function Negative regulator of PRKN translocation to damaged mitochondria. Acts probably by destabilizing PINK1 protein, hence inhibiting PRKN targeting to dysfunctional depolarized mitochondria.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03145 Sina 79 256 Seven in absentia protein family Family
Sequence
Sequence length 269
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
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Brain Diseases Associate 31711042
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 40243415
★☆☆☆☆
Found in Text Mining only
Cardiomegaly Associate 31711042
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Associate 31711042
★☆☆☆☆
Found in Text Mining only
Hypercapnia Associate 40243415
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Associate 24270810
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 31711042
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Associate 33517887
★☆☆☆☆
Found in Text Mining only
Phobia Social Associate 33542190
★☆☆☆☆
Found in Text Mining only