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] See more...

Aliases for SDHAF2 Gene

Aliases for SDHAF2 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 2 2 3 5
  • Succinate Dehydrogenase Assembly Factor 2, Mitochondrial 3 4
  • SDH Assembly Factor 2 3 4
  • C11orf79 3 4
  • PGL2 3 4
  • SDH5 3 4
  • Succinate Dehydrogenase Subunit 5, Mitochondrial 3
  • Paraganglioma Or Familial Glomus Tumors 2 2
  • Chromosome 11 Open Reading Frame 79 2
  • HSDH5 3

External Ids for SDHAF2 Gene

Previous HGNC Symbols for SDHAF2 Gene

  • PGL2
  • C11orf79

Previous GeneCards Identifiers for SDHAF2 Gene

  • GC11P060956
  • GC11P061198
  • GC11P057525

Summaries for SDHAF2 Gene

Entrez Gene Summary for SDHAF2 Gene

  • 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]

GeneCards Summary for SDHAF2 Gene

SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2) is a Protein Coding gene. Diseases associated with SDHAF2 include Paragangliomas 2 and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are Glucose / Energy Metabolism. An important paralog of this gene is ENSG00000256591.

UniProtKB/Swiss-Prot Summary for SDHAF2 Gene

  • Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.

Additional gene information for SDHAF2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SDHAF2 Gene

Genomics for SDHAF2 Gene

GeneHancer (GH) Regulatory Elements for SDHAF2 Gene

Promoters and enhancers for SDHAF2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SDHAF2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SDHAF2 Gene

Genomic Locations for SDHAF2 Gene
chr11:61,430,042-61,447,529
(GRCh38/hg38)
Size:
17,488 bases
Orientation:
Plus strand
chr11:61,197,514-61,215,001
(GRCh37/hg19)
Size:
17,488 bases
Orientation:
Plus strand

Genomic View for SDHAF2 Gene

Genes around SDHAF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHAF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHAF2 Gene

Proteins for SDHAF2 Gene

  • Protein details for SDHAF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NX18-SDHF2_HUMAN
    Recommended name:
    Succinate dehydrogenase assembly factor 2, mitochondrial
    Protein Accession:
    Q9NX18

    Protein attributes for SDHAF2 Gene

    Size:
    166 amino acids
    Molecular mass:
    19599 Da
    Quaternary structure:
    • Interacts with SDHA within the SDH catalytic dimer.

neXtProt entry for SDHAF2 Gene

Post-translational modifications for SDHAF2 Gene

  • Ubiquitination at Lys100 and Lys164
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SDHAF2 Gene

Domains & Families for SDHAF2 Gene

Gene Families for SDHAF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SDHAF2 Gene

Suggested Antigen Peptide Sequences for SDHAF2 Gene

GenScript: Design optimal peptide antigens:
  • Succinate dehydrogenase subunit 5, mitochondrial (SDHF2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NX18

UniProtKB/Swiss-Prot:

SDHF2_HUMAN :
  • Belongs to the SDHAF2 family.
Family:
  • Belongs to the SDHAF2 family.
genes like me logo Genes that share domains with SDHAF2: view

Function for SDHAF2 Gene

Molecular function for SDHAF2 Gene

UniProtKB/Swiss-Prot Function:
Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer.

Phenotypes From GWAS Catalog for SDHAF2 Gene

Gene Ontology (GO) - Molecular Function for SDHAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19628817
genes like me logo Genes that share ontologies with SDHAF2: view
genes like me logo Genes that share phenotypes with SDHAF2: view

Human Phenotype Ontology for SDHAF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SDHAF2 Gene

Localization for SDHAF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHAF2 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SDHAF2 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 4
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SDHAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA,IBA 19628817
GO:0005759 mitochondrial matrix IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SDHAF2: view

Pathways & Interactions for SDHAF2 Gene

PathCards logo

SuperPathways for SDHAF2 Gene

SuperPathway Contained pathways
1 Glucose / Energy Metabolism
genes like me logo Genes that share pathways with SDHAF2: view

Pathways by source for SDHAF2 Gene

1 Cell Signaling Technology pathway for SDHAF2 Gene

SIGNOR curated interactions for SDHAF2 Gene

Activates:

Gene Ontology (GO) - Biological Process for SDHAF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle IBA 21873635
GO:0006121 mitochondrial electron transport, succinate to ubiquinone IBA,IMP 19628817
GO:0006470 protein dephosphorylation IEA,IGI 23983127
GO:0010719 negative regulation of epithelial to mesenchymal transition IMP 23983127
GO:0018293 protein-FAD linkage IMP,IBA 19628817
genes like me logo Genes that share ontologies with SDHAF2: view

Drugs & Compounds for SDHAF2 Gene

No Compound Related Data Available

Transcripts for SDHAF2 Gene

mRNA/cDNA for SDHAF2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SDHAF2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - -
SP7: - - - - - -

Relevant External Links for SDHAF2 Gene

GeneLoc Exon Structure for
SDHAF2
ECgene alternative splicing isoforms for
SDHAF2

Expression for SDHAF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SDHAF2 Gene

Protein differential expression in normal tissues from HIPED for SDHAF2 Gene

This gene is overexpressed in Heart (26.3), Islet of Langerhans (16.7), Fetal heart (7.2), and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SDHAF2 Gene



Protein tissue co-expression partners for SDHAF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SDHAF2 Gene:

SDHAF2

SOURCE GeneReport for Unigene cluster for SDHAF2 Gene:

Hs.313247

Evidence on tissue expression from TISSUES for SDHAF2 Gene

  • Lung(4.3)
  • Nervous system(3.7)
  • Adrenal gland(3)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SDHAF2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
  • trachea
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with SDHAF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SDHAF2 Gene

Orthologs for SDHAF2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SDHAF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPP1R32 32
  • 99.39 (n)
SDHAF2 33
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdhaf2 17 33 32
  • 89.78 (n)
dog
(Canis familiaris)
Mammalia SDHAF2 33 32
  • 89.02 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SDHAF2 33 32
  • 88.89 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdhaf2 32
  • 88.62 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC426015 32
  • 67.1 (n)
-- 33
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhaf2 32
  • 63.33 (n)
zebrafish
(Danio rerio)
Actinopterygii sdhaf2 33 32
  • 62.99 (n)
OneToMany
wufj30e04 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13801 32
fruit fly
(Drosophila melanogaster)
Insecta CG14757 33 32
  • 55.35 (n)
ManyToMany
CG12895 33
  • 43 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012191 32
  • 53.39 (n)
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.29 33
  • 37 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER200C 32
  • 56.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13333g 32
  • 55.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMI5 33 32
  • 54.82 (n)
OneToMany
SDH5 35
bread mold
(Neurospora crassa)
Ascomycetes NCU01343 32
  • 51.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 42 (a)
OneToMany
Species where no ortholog for SDHAF2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SDHAF2 Gene

ENSEMBL:
Gene Tree for SDHAF2 (if available)
TreeFam:
Gene Tree for SDHAF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SDHAF2: view image

Paralogs for SDHAF2 Gene

Paralogs for SDHAF2 Gene

genes like me logo Genes that share paralogs with SDHAF2: view

Variants for SDHAF2 Gene

Sequence variations from dbSNP and Humsavar for SDHAF2 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1002894711 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 61,437,631(+) G/T coding_sequence_variant, missense_variant
rs1060503389 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary cancer-predisposing syndrome 61,437,809(+) G/A coding_sequence_variant, missense_variant
rs1060503390 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 61,437,745(+) C/T coding_sequence_variant, missense_variant
rs1060503391 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 61,445,955(+) C/T coding_sequence_variant, missense_variant
rs1060503392 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 61,430,148(+) T/A/C initiator_codon_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SDHAF2 Gene

Variant ID Type Subtype PubMed ID
esv3626580 CNV gain 21293372
esv3626581 CNV loss 21293372
nsv832178 CNV gain+loss 17160897

Variation tolerance for SDHAF2 Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 3.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SDHAF2 Gene

Human Gene Mutation Database (HGMD)
SDHAF2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SDHAF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHAF2 Gene

Disorders for SDHAF2 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SDHAF2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
paragangliomas 2
  • pgl2
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
inherited cancer-predisposing syndrome
  • hereditary cancer-predisposing syndrome
paraganglioma
  • chemodectoma
foster-kennedy syndrome
  • optic nerve diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SDHF2_HUMAN
  • Paragangliomas 2 (PGL2) [MIM:601650]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. {ECO:0000269 PubMed:19628817}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SDHAF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SDHAF2: view

No data available for Genatlas for SDHAF2 Gene

Publications for SDHAF2 Gene

  1. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. (PMID: 19628817) Hao HX … Rutter J (Science (New York, N.Y.) 2009) 2 3 4 56
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  3. Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. (PMID: 28384794) Bausch B … European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group (JAMA oncology 2017) 3 56
  4. Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas. (PMID: 28099933) Hoekstra AS … Bayley JP (Oncotarget 2017) 3 56
  5. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 56

Products for SDHAF2 Gene

Sources for SDHAF2 Gene