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

Gene ID: 6478, updated on 8-Jul-2021

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
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Genomic context

See SIAH2 in Genome Data Viewer
Location:
3q25.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (150741125..150763169, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (150458912..150480956, 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 Sharpr-MPRA regulatory region 9248

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

Associated conditions

Description Tests
A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese.
GeneReviews: Not available

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
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription corepressor activity TAS
Traceable Author Statement
more info
PubMed 
enables ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin protein ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ubiquitin-protein transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ubiquitin-protein transferase activity TAS
Traceable Author Statement
more info
 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in amyloid fibril formation TAS
Traceable Author Statement
more info
 
involved_in apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cell cycle IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within cellular protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of circadian rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
involved_in rhythmic process IEA
Inferred from Electronic Annotation
more info
 
involved_in small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ubiquitin-dependent protein catabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in early endosome IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in 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)

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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
    cd16752
    Location:78115
    RING-HC_SIAH2; RING finger, HC subclass, found in seven in absentia homolog 2 (SIAH2) and similar proteins
    pfam03145
    Location:122318
    Sina; Seven in absentia protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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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