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

    Gene ID: 6478, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:10858
    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
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (150741125..150763169, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (153492334..153514363, complement)
    105.20220307 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 ERICH6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150442941-150443442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150443443-150443942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:150445187-150445686 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4443 Neighboring gene CRISPRi-validated cis-regulatory element chr3.4444 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 3 Neighboring gene uncharacterized LOC101928105 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14817 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20698 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:150480427-150481373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20699 Neighboring gene uncharacterized LOC124909447 Neighboring gene SIAH2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14819 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:150523844-150524366 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:150524367-150524888 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:150539149-150539823 Neighboring gene NANOG hESC enhancer GRCh37_chr3:150566660-150567161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14820 Neighboring gene MINDY family member 4B Neighboring gene uncharacterized LOC124909446

    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

    EBI 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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    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 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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 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, O43270
      UniProtKB/TrEMBL
      Q53ES4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      153492334..153514363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)