Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6478
Gene name Gene Name - the full gene name approved by the HGNC.
Siah E3 ubiquitin protein ligase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SIAH2
Synonyms (NCBI Gene) Gene synonyms aliases
hSiah2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT047977 hsa-miR-30c-5p CLASH 23622248
MIRT041115 hsa-miR-503-5p CLASH 23622248
0 hsa-miR-191-5p Immunoprecipitation, In situ hybridization, Luciferase assay, Microarray, Northern blot, QRTPCR, Western blot 23505378
MIRT554313 hsa-miR-5692a PAR-CLIP 20371350
MIRT554312 hsa-miR-590-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination TAS
GO:0003714 Function Transcription corepressor activity TAS 10207103
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602213 10858 ENSG00000181788
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
22951594
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
22951594
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Stimulate 26580787
Adenocarcinoma of Lung Stimulate 26580787
Adenomatous Polyposis Coli Inhibit 17463182
Breast Neoplasms Associate 21306611, 22037769, 23208506, 24244489, 24656476, 26654769, 33727952, 35309179, 35913115, 36077333, 40004017, 40696656
Breast Neoplasms Stimulate 40442365
Carcinogenesis Associate 35154166, 35816252
Carcinoma Intraductal Noninfiltrating Stimulate 21306611
Carcinoma Non Small Cell Lung Associate 24833526, 26580787
Carcinoma Ovarian Epithelial Associate 26512788
Carcinoma Squamous Cell Stimulate 24833526