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

Gene ID: 54949, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:26034
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; PPGL2; hSDH5; C11orf79
Summary
This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]
Expression
Ubiquitous expression in lymph node (RPKM 19.3), adrenal (RPKM 17.1) and 25 other tissues See more
Orthologs
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Genomic context

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See SDHAF2 in Genome Data Viewer
Location:
11q12.2
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (61430124..61446733)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (61419022..61435631)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61197596..61214205)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61159824-61160785 Neighboring gene transmembrane protein 216 Neighboring gene cleavage and polyadenylation specific factor 7 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61196662-61197310 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61197385-61197720 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:61213814-61214561 Neighboring gene RNA, 7SL, cytoplasmic 23, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr11:61225919-61226100 Neighboring gene Sharpr-MPRA regulatory region 8840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61253575-61254394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61255818-61256485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:61256486-61257152 Neighboring gene stabilizer of axonemal microtubules 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:61261837-61262435 Neighboring gene uncharacterized LOC105369329 Neighboring gene MPRA-validated peak1286 silencer

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Buffet A, et al. Best Pract Res Clin Endocrinol Metab, 2020 Mar. PMID 32295730
  2. A Family With a Carotid Body Paraganglioma and Thyroid Neoplasias With a New SDHAF2 Germline Variant. Wolf KI, et al. J Endocr Soc, 2019 Nov 1. PMID 31687641, Free PMC Article
  3. PHEOCHROMOCYTOMA: A GENETIC AND DIAGNOSTIC UPDATE. Mercado-Asis LB, et al. Endocr Pract, 2018 Jan. PMID 29144820
  4. Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. Zhu WD, et al. Eur J Med Genet, 2015 Sep. PMID 26096992
  5. Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation. Casey R, et al. J Clin Endocrinol Metab, 2014 Jul. PMID 24712571

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.
    Title: The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein.
  2. SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.
    Title: SDH5 Depletion Enhances Radiosensitivity by Regulating p53: A New Method for Noninvasive Prediction of Radiotherapy Response.
  3. Loss of SDHAF2 gene is associated with paragangliomas.
    Title: Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
  4. The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma.
    Title: Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
  5. data show that SDHA flavination is independent of SDHAF2 in breast cancer cells, employing an alternative mechanism.
    Title: The Assembly Factor SDHAF2 Is Dispensable for Flavination of the Catalytic Subunit of Mitochondrial Complex II in Breast Cancer Cells.
  6. FAD interacts noncovalently with SDHA in the absence of SDH5
    Title: In-vitro, SDH5-dependent flavinylation of immobilized human respiratory complex II flavoprotein.
  7. Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHAF2 gene cause Paragangliomas only when the mutation is inherited from father.
    Title: A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort.
  8. Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role.
    Title: Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas.
  9. New mutation found in SDHAF2 gene in pheochromocytoma/paraganglioma patients.
    Title: Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation.
  10. Data indicate that SDH5 is protected from mitochondrial LON (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2).
    Title: Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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
MedGen: C1866552 OMIM: 601650 GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-05-11)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-05-11)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: SAXO4

Homology

Clone Names

  • FLJ20487

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial electron transport, succinate to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial electron transport, succinate to ubiquinone IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial respiratory chain complex II assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within negative regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within protein dephosphorylation IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in protein-FAD linkage IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein-FAD linkage IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tricarboxylic acid cycle IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
succinate dehydrogenase assembly factor 2, mitochondrial
Names
SDH assembly factor 2
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_017841.4 → NP_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:67 → 140
    Sdh5; Flavinator of succinate dehydrogenase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    61419022..61435631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NX18.1 GenPept UniProtKB/Swiss-Prot:Q9NX18

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
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Research Materials
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