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

    Gene ID: 6392, updated on 15-Oct-2017
    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; Vega:OTTHUMG00000166997
    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
    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]
    Orthologs
    Location:
    11q23.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (112086824..112095801)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111957548..111966525)

    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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Associated conditions

    Description Tests
    Carcinoid tumor of intestine
    MedGen: C0349535 OMIM: 114900 GeneReviews: Not available
    Compare labs
    Cowden syndrome 3
    MedGen: C3554516 OMIM: 615106 GeneReviews: Not available
    Compare labs
    Mitochondrial complex II deficiency
    MedGen: C1855008 OMIM: 252011 GeneReviews: Not available
    Compare labs
    Paraganglioma and gastric stromal sarcoma
    MedGen: C1847319 OMIM: 606864 GeneReviews: Not available
    Compare labs
    Paragangliomas 1 Compare labs
    Pheochromocytoma Compare labs

    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
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    heme binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to succinate dehydrogenase (ubiquinone) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    succinate dehydrogenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquinone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ubiquinone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    mitochondrial electron transport, succinate to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    tricarboxylic acid cycle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    tricarboxylic acid cycle IEA
    Inferred from Electronic Annotation
    more info
     
    tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial envelope TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    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

    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
      4978..13955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001276503.1NP_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, OTTHUMP00000234722, ENST00000528048.5, OTTHUMT00000392353
    2. NM_001276504.1NP_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, OTTHUMP00000234725, ENST00000525291.5, OTTHUMT00000392356
      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_001276506.1NP_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, OTTHUMP00000234724, ENST00000526592.5, OTTHUMT00000392355
      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_003002.3NP_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, BQ932668
      Consensus CDS
      CCDS31678.1
      UniProtKB/Swiss-Prot
      O14521
      UniProtKB/TrEMBL
      A0A0S2Z4J3
      Related
      ENSP00000364699.3, OTTHUMP00000234720, ENST00000375549.7, OTTHUMT00000392351
      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_077060.1 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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      112086824..112095801
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      111840726..111849704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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