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    SDHB succinate dehydrogenase complex iron sulfur subunit B [ Homo sapiens (human) ]

    Gene ID: 6390, updated on 5-Aug-2022

    Summary

    Official Symbol
    SDHBprovided by HGNC
    Official Full Name
    succinate dehydrogenase complex iron sulfur subunit Bprovided by HGNC
    Primary source
    HGNC:HGNC:10681
    See related
    Ensembl:ENSG00000117118 MIM:185470; AllianceGenome:HGNC:10681
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IP; SDH; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4
    Summary
    This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]
    Expression
    Ubiquitous expression in heart (RPKM 84.5), kidney (RPKM 76.7) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SDHB in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17018722..17054032, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (16829151..16864469, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17345217..17380527, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376806 Neighboring gene microfibril associated protein 2 Neighboring gene ATPase cation transporting 13A2 Neighboring gene peptidyl arginine deiminase 2 Neighboring gene uncharacterized LOC124903861 Neighboring gene uncharacterized LOC105376808

    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

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in SDHB that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-07-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates succinate dehydrogenase complex, subunit B, iron sulfur (SDHB) expression in Jurkat T-cells PubMed
    tat Using a yeast two-hybrid system, HIV-1 Tat has been shown to bind the human succinate-ubiquinone oxidoreductase iron sulfur subunit, suggesting a role for this protein in mediating the biological activity of Tat during HIV-1 replication PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ92337

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 2 iron, 2 sulfur cluster binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables 3 iron, 4 sulfur cluster binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables 4 iron, 4 sulfur cluster binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables electron transfer activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables succinate dehydrogenase (ubiquinone) activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquinone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
    Names
    iron-sulfur subunit of complex II
    succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
    NP_002991.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_012340.1 RefSeqGene

      Range
      5001..40449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_316

    mRNA and Protein(s)

    1. NM_001407361.1NP_001394290.1  succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL049569
    2. NM_003000.3NP_002991.2  succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_002991.2

      Status: REVIEWED

      Source sequence(s)
      BC007840, BF796275, BU554163
      Consensus CDS
      CCDS176.1
      UniProtKB/Swiss-Prot
      P21912, Q9NQ12
      Related
      ENSP00000364649.3, ENST00000375499.8
      Conserved Domains (1) summary
      PLN00129
      Location:5271
      PLN00129; succinate dehydrogenase [ubiquinone] iron-sulfur subunit

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      17018722..17054032 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791756.1 Reference GRCh38.p14 PATCHES

      Range
      1433916..1469227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      16829151..16864469 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)