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    SDHAF2 succinate dehydrogenase complex assembly factor 2 [ Homo sapiens (human) ]

    Gene ID: 54949, updated on 7-Aug-2021

    Summary

    Official Symbol
    SDHAF2provided by HGNC
    Official Full Name
    succinate dehydrogenase complex assembly factor 2provided by HGNC
    Primary source
    HGNC:HGNC:26034
    See related
    Ensembl:ENSG00000167985 MIM:613019
    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
    PGL2; SDH5; C11orf79
    Summary
    This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in lymph node (RPKM 19.3), adrenal (RPKM 17.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SDHAF2 in Genome Data Viewer
    Location:
    11q12.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61430124..61446733)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61197596..61214205)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 216 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene RNA, 7SL, cytoplasmic 23, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8840 Neighboring gene protein phosphatase 1 regulatory subunit 32 Neighboring gene uncharacterized LOC105369329

    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 SDHAF2 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Paragangliomas 2 Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2016-01-14)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated 2016-01-14)

    ClinGen Genome Curation PagePubMed

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ20487

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrial matrix IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    succinate dehydrogenase assembly factor 2, mitochondrial
    Names
    SDH assembly factor 2
    hSDH5
    succinate dehydrogenase subunit 5, mitochondrial

    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_023393.1 RefSeqGene

      Range
      5001..21643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_519

    mRNA and Protein(s)

    1. NM_017841.4NP_060311.1  succinate dehydrogenase assembly factor 2, mitochondrial

      See identical proteins and their annotated locations for NP_060311.1

      Status: VALIDATED

      Source sequence(s)
      AP003108
      Consensus CDS
      CCDS8007.1
      UniProtKB/Swiss-Prot
      Q9NX18
      Related
      ENSP00000301761.3, ENST00000301761.7
      Conserved Domains (1) summary
      pfam03937
      Location:67140
      Sdh5; Flavinator of succinate dehydrogenase

    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
      61430124..61446733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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