Gene Gene information from NCBI Gene database.
Entrez ID 6478
Gene name Siah E3 ubiquitin protein ligase 2
Gene symbol SIAH2
Synonyms (NCBI Gene)
hSiah2
Chromosome 3
Chromosome location 3q25.1
Summary This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has
miRNA miRNA information provided by mirtarbase database.
475
miRTarBase ID miRNA Experiments Reference
MIRT047977 hsa-miR-30c-5p CLASH 23622248
MIRT041115 hsa-miR-503-5p CLASH 23622248
0 hsa-miR-191-5p ImmunoprecipitationIn situ hybridizationLuciferase assayMicroarrayNorthern blotQRTPCRWestern blot 23505378
MIRT554313 hsa-miR-5692a PAR-CLIP 20371350
MIRT554312 hsa-miR-590-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0003714 Function Transcription corepressor activity TAS 10207103
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0004842 Function Ubiquitin-protein transferase activity ISS
GO:0004842 Function Ubiquitin-protein transferase activity TAS
GO:0005515 Function Protein binding IPI 21586138, 21659512, 23840749, 25438054, 26392558, 28546513
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602213 10858 ENSG00000181788
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43255
Protein name E3 ubiquitin-protein ligase SIAH2 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase SIAH2) (Seven in absentia homolog 2) (Siah-2) (hSiah2)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:11483518, PubMed:19224863, PubMed:9334332). E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme
PDB 5H9M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03145 Sina 122 318 Seven in absentia protein family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low level. {ECO:0000269|PubMed:9403064}.
Sequence
Sequence length 324
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Netrin-1 signaling
Ub-specific processing proteases
Amyloid fiber formation
Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
BRCAX BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26859780
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26580787
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 21037926
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18629630, 21306611, 22951594, 26654769, 27459914
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma GWASCAT_DG 22951594
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 21306611, 22037769, 23208506, 24244489, 24656476, 26654769, 33727952, 35309179, 35913115, 36077333, 40004017, 40696656 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40442365 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35154166, 35816252 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Intraductal Noninfiltrating Intraductal noninfiltrating carcinoma Pubtator 21306611 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 19001609, 26580787
★☆☆☆☆
Found in Text Mining only