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

    Gene ID: 6390, updated on 11-Jul-2021

    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
    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
    Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 84.5), kidney (RPKM 76.7) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SDHB in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17018722..17054032, complement)
    105.20201022 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 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

    Associated conditions

    Description Tests
    A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
    GeneReviews: Not available
    Carney-Stratakis syndrome
    MedGen: C1847319 OMIM: 606864 GeneReviews: Not available
    Compare labs
    Gastrointestinal stromal tumor
    MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
    Compare labs
    Mitochondrial complex 2 deficiency, nuclear type 4
    MedGen: CN295804 OMIM: 619224 GeneReviews: Not available
    Compare labs
    Paragangliomas 4 Compare labs
    Pheochromocytoma Compare labs

    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

    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
     
    Process Evidence Code Pubs
    involved_in aerobic respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in respiratory electron transport chain IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in succinate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    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)

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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.

    Genomic

    1. NG_012340.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_003000.3NP_002991.2  succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial 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
      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 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_000001.11 Reference GRCh38.p13 Primary Assembly

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