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SIAH2 siah E3 ubiquitin protein ligase 2 [ Homo sapiens (human) ]

Gene ID: 6478, updated on 1-Jun-2020

Summary

Official Symbol
SIAH2provided by HGNC
Official Full Name
siah E3 ubiquitin protein ligase 2provided by HGNC
Primary source
HGNC:HGNC:10858
See related
Ensembl:ENSG00000181788 MIM:602213
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
hSiah2
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 been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in adrenal (RPKM 42.6), placenta (RPKM 22.5) and 24 other tissues See more
Orthologs

Genomic context

See SIAH2 in Genome Data Viewer
Location:
3q25.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (150741125..150763169, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150458910..150481263, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr3.4444 Neighboring gene uncharacterized LOC101928105 Neighboring gene uncharacterized LOC105374155 Neighboring gene MINDY family member 4B Neighboring gene clarin 1 Neighboring gene CLRN1 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cellular protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of netrin-activated signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
rhythmic process IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase SIAH2
Names
RING-type E3 ubiquitin transferase SIAH2
seven in absentia homolog 2
siah-2
NP_005058.3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005067.7NP_005058.3  E3 ubiquitin-protein ligase SIAH2

    See identical proteins and their annotated locations for NP_005058.3

    Status: VALIDATED

    Source sequence(s)
    AC011317, AK223565, BC013082, BX110898, CK823254
    Consensus CDS
    CCDS3152.1
    UniProtKB/Swiss-Prot
    O43255
    Related
    ENSP00000322457.3, ENST00000312960.4
    Conserved Domains (2) summary
    pfam03145
    Location:122318
    Sina; Seven in absentia protein family
    cd16752
    Location:78115
    RING-HC_SIAH2; RING finger, HC subclass, found in seven in absentia homolog 2 (SIAH2) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    150741125..150763169 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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