• Gene id: 6478

Gene Summary

• Gene Symbol: SIAH2   Gene   UCSC   Ensembl
• Aliases: hSiah2
• Gene name: siah E3 ubiquitin protein ligase 2
• Alternate names: E3 ubiquitin-protein ligase SIAH2, RING-type E3 ubiquitin transferase SIAH2, seven in absentia homolog 2, siah-2,
• Gene location: 3q25.1 (150763168: 150741124)     Exons: 2     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 602213

Protein Summary

• Protein general information: O43255  
  • 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)
  • Length: 324  
  • Mass: 34615
  • Tissue specificity: Widely expressed at low level. {ECO
• Sequence:

  MSRPSSTGPSANKPCSKQPPPQPQHTPSPAAPPAAATISAAGPGSSAVPAAAAVISGPGGGGGAGPVSPQHHELT
  SLFECPVCFDYVLPPILQCQAGHLVCNQCRQKLSCCPTCRGALTPSIRNLAMEKVASAVLFPCKYATTGCSLTLH
  HTEKPEHEDICEYRPYSCPCPGASCKWQGSLEAVMSHLMHAHKSITTLQGEDIVFLATDINLPGAVDWVMMQSCF
  GHHFMLVLEKQEKYEGHQQFFAIVLLIGTRKQAENFAYRLELNGNRRRLTWEATPRSIHDGVAAAIMNSDCLVFD
  TAIAHLFADNGNLGINVTISTCCP

• Structural information:
  • Interpro: IPR018121  IPR004162  IPR008974  IPR001841  IPR013083   IPR013010  
  • Prosite: PS50089 PS51081
  • PDB: 5H9M
  • PDBsum: 5H9M
  • DIP: 41874
  • STRING: ENSP00000322457
• Other Databases: GeneCards:  SIAH2  Malacards:  SIAH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0031624	ubiquitin conjugating enzyme binding	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0004842	ubiquitin-protein transferase activity	ISS	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	ISS	biological process
GO:0061630	ubiquitin protein ligase activity	ISS	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042752	regulation of circadian rhythm	IMP	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0007049	cell cycle	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0003714	transcription corepressor activity	TAS	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0007264	small GTPase mediated signal transduction	TAS	biological process
GO:0044257	cellular protein catabolic process	IGI	biological process
GO:0044257	cellular protein catabolic process	IGI	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0044267	cellular protein metabolic process	TAS	biological process
GO:1902842	negative regulation of netrin-activated signaling pathway	TAS	biological process
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0004842	ubiquitin-protein transferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0031396	regulation of protein ubiquitination	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0042752	regulation of circadian rhythm	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0031624	ubiquitin conjugating enzyme binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:2001237	negative regulation of extrinsic apoptotic signaling pathway	IMP	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray