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    SDHD succinate dehydrogenase complex subunit D [ Homo sapiens (human) ]

    Gene ID: 6392, updated on 8-Jul-2021

    Summary

    Official Symbol
    SDHDprovided by HGNC
    Official Full Name
    succinate dehydrogenase complex subunit Dprovided by HGNC
    Primary source
    HGNC:HGNC:10683
    See related
    Ensembl:ENSG00000204370 MIM:602690
    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
    PGL; CBT1; CWS3; PGL1; QPs3; SDH4; cybS; CII-4; MC2DN3
    Summary
    This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
    Expression
    Ubiquitous expression in kidney (RPKM 95.3), duodenum (RPKM 84.6) and 25 other tissues See more
    Orthologs
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    Genomic context

    See SDHD in Genome Data Viewer
    Location:
    11q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (112086873..112095794)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111957597..111966518)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene PIH1 domain containing 2 Neighboring gene NKAP domain containing 1 Neighboring gene translocase of inner mitochondrial membrane 8 homolog B Neighboring gene interleukin 18 Neighboring gene uncharacterized LOC107987164

    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 SDHD that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2015-08-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2015-08-13)

    ClinGen Genome Curation PagePubMed

    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 electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables heme binding ISS
    Inferred from Sequence or Structural Similarity
    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 ubiquinone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquinone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in mitochondrial electron transport, succinate to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tricarboxylic acid cycle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in tricarboxylic acid cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
    Names
    succinate dehydrogenase complex subunit D integral membrane protein
    succinate-ubiquinone oxidoreductase cytochrome b small subunit
    succinate-ubiquinone reductase membrane anchor subunit

    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_012337.3 RefSeqGene

      Range
      5027..13948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_9

    mRNA and Protein(s)

    1. NM_001276503.2NP_001263432.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon, which results in a frameshift, compared to variant 1. The encoded isoform (b) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AI753083, AP002007, BC015188, BQ932668, CD105572
      Consensus CDS
      CCDS60959.1
      UniProtKB/Swiss-Prot
      O14521
      UniProtKB/TrEMBL
      A0A0S2Z4H7
      Related
      ENSP00000436217.1, ENST00000528048.5
    2. NM_001276504.2NP_001263433.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon, but retains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
      Source sequence(s)
      AI753083, AP002007, BC015188, BF211358, BQ932668
      Consensus CDS
      CCDS60960.1
      UniProtKB/Swiss-Prot
      O14521
      Related
      ENSP00000436669.1, ENST00000525291.5
      Conserved Domains (1) summary
      cd03496
      Location:21119
      SQR_TypeC_CybS; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol. Eukaryotic SQRs reduce high potential quinones such as ubiquinone. SQR is also called succinate dehydrogenase or Complex II, and is part of the citric ...
    3. NM_001276506.2NP_001263435.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform d precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate coding exon, which results in a frameshift, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AI753083, AP002007, BC015188, BG492859, BQ932668
      Consensus CDS
      CCDS60958.1
      UniProtKB/Swiss-Prot
      O14521
      Related
      ENSP00000432005.1, ENST00000526592.5
      Conserved Domains (1) summary
      cl00881
      Location:60105
      SQR_QFR_TM; Succinate:quinone oxidoreductase (SQR) and Quinol:fumarate reductase (QFR) family, transmembrane subunits; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol, while QFR catalyzes the reverse reaction. SQR, ...
    4. NM_003002.4NP_002993.1  succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_002993.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AI753083, AP002007, BC015188
      Consensus CDS
      CCDS31678.1
      UniProtKB/Swiss-Prot
      O14521
      UniProtKB/TrEMBL
      A0A0S2Z4J3
      Related
      ENSP00000364699.3, ENST00000375549.8
      Conserved Domains (1) summary
      cd03496
      Location:60158
      SQR_TypeC_CybS; SQR catalyzes the oxidation of succinate to fumarate coupled to the reduction of quinone to quinol. Eukaryotic SQRs reduce high potential quinones such as ubiquinone. SQR is also called succinate dehydrogenase or Complex II, and is part of the citric ...

    RNA

    1. NR_077060.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI753083, AP002007, BC015188, BE567994, BQ932668

    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_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      112086873..112095794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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