Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SDHAF2 Gene

Aliases for SDHAF2 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 2 2 3 5
  • SDH Assembly Factor 2 3 4
  • C11orf79 3 4
  • PGL2 3 4
  • SDH5 3 4
  • Succinate Dehydrogenase Assembly Factor 2, Mitochondrial 3
  • 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 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHAF2 Gene

Genomics for SDHAF2 Gene

Regulatory Elements for SDHAF2 Gene

Enhancers for SDHAF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11F061377 1.4 FANTOM5 Ensembl ENCODE 6.1 -51.1 -51139 2.9 BCOR JUN ZMYM3 CEBPG RFX5 YY1 ZFHX2 ADNP SCRT2 HNF4G DDB1 TKFC DAGLA CYB561A3 SDHAF2 VPS37C CPSF7 SLC15A3 TMEM138 GC11P061375
GH11F061428 1.1 ENCODE 7.1 -0.1 -112 3.3 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 TMEM216 VPS37C DDB1 TKFC CPSF7 SDHAF2 ENSG00000256591
GH11F061417 1 Ensembl ENCODE 7.4 -11.8 -11818 2.4 PKNOX1 RFX1 MAFG CEBPB USF2 ZNF316 RAD51 ZFHX2 HMBOX1 FOXJ2 TMEM216 DDB1 TKFC MYRF DKFZP434K028 SDHAF2 PIR40905 PIR50742
GH11F061693 1.6 FANTOM5 Ensembl ENCODE 4.5 +268.5 268460 9.8 PKNOX1 SIN3A FOS DEK ZNF263 REST SMARCB1 ZNF592 NFIL3 MAFF MYRF DKFZP434K028 DAGLA SYT7 FTH1 CYB561A3 VWCE SDHAF2 DDB1 LBHD1
GH11F061444 0.9 ENCODE 7.2 +17.3 17304 4.9 HDGF CBX3 WRNIP1 ARID4B SIN3A ZNF2 RAD21 KAT2B ZNF143 FOS TMEM216 SYT7 DDB1 TKFC SDHAF2 RN7SL23P PPP1R32
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SDHAF2 on UCSC Golden Path with GeneCards custom track

Promoters for SDHAF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109501 158 2401 PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for SDHAF2 Gene

Chromosome:
11
Start:
61,430,042 bp from pter
End:
61,447,529 bp from pter
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 Lys 100 and Lys 164
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SDHAF2 (SDH5)

No data available for DME Specific Peptides for SDHAF2 Gene

Domains & Families for SDHAF2 Gene

Protein Domains for SDHAF2 Gene

Suggested Antigen Peptide Sequences for SDHAF2 Gene

GenScript: Design optimal peptide antigens:

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.

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

Phenotypes for SDHAF2 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
peroxisome 2
extracellular 1

Gene Ontology (GO) - Cellular Components for SDHAF2 Gene

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

Pathways & Interactions for SDHAF2 Gene

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:0006121 mitochondrial electron transport, succinate to ubiquinone IMP 19628817
GO:0006470 protein dephosphorylation IGI 23983127
GO:0010719 negative regulation of epithelial to mesenchymal transition IMP 23983127
GO:0018293 protein-FAD linkage IMP 19628817
GO:0090090 negative regulation of canonical Wnt signaling pathway IGI 23983127
genes like me logo Genes that share ontologies with SDHAF2: view

Transcripts for SDHAF2 Gene

Unigene Clusters for SDHAF2 Gene

Succinate dehydrogenase complex assembly factor 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with SDHAF2: view

Primer Products

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 34
  • 99.39 (n)
SDHAF2 35
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdhaf2 34 16 35
  • 89.78 (n)
dog
(Canis familiaris)
Mammalia SDHAF2 34 35
  • 89.02 (n)
cow
(Bos Taurus)
Mammalia SDHAF2 34 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Sdhaf2 34
  • 88.62 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC426015 34
  • 67.1 (n)
-- 35
  • 66 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhaf2 34
  • 63.33 (n)
zebrafish
(Danio rerio)
Actinopterygii sdhaf2 34 35
  • 62.99 (n)
wufj30e04 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13801 34
fruit fly
(Drosophila melanogaster)
Insecta CG14757 34 35
  • 55.35 (n)
CG12895 35
  • 43 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012191 34
  • 53.39 (n)
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.29 35
  • 37 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER200C 34
  • 56.43 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13333g 34
  • 55.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMI5 34 35
  • 54.82 (n)
SDH5 37
bread mold
(Neurospora crassa)
Ascomycetes NCU01343 34
  • 51.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 Sequence Context AA Info Type
rs113560320 Paragangliomas 2 (PGL2) [MIM:601650], Pathogenic 61,437,820(+) AGAGG(A/G)GAATG reference, missense
rs876658350 Likely pathogenic 61,438,090(+) TGACT(A/G)GGATA reference, stop-gained
rs144867876 Uncertain significance 61,437,685(+) TCAGA(C/T)GCTTC reference, missense
rs150187184 Uncertain significance 61,446,060(+) TTGAA(A/G)AGCCA reference, missense
rs184314049 Uncertain significance 61,438,052(+) CTGAA(C/T)CTCTA reference, synonymous-codon

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)

Relevant External Links 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

(9) MalaCards diseases for SDHAF2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
paragangliomas 2
  • glomus tumors, familial, 2
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
neural crest tumor
  • neural crest-derived tumors
adrenal medulla cancer
  • adrenal medulla neoplasm
extra-adrenal pheochromocytoma
  • extraadrenal pheochromocytoma
- 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.

Relevant External Links for SDHAF2

Genetic Association Database (GAD)
SDHAF2
Human Genome Epidemiology (HuGE) Navigator
SDHAF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SDHAF2
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 H.-X. … Rutter J. (Science 2009) 2 3 4 64
  2. A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort. (PMID: 24973967) Anttila T. … BAock L.J. (Eur Arch Otorhinolaryngol 2015) 3 64
  3. Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. (PMID: 26096992) Zhu W.D. … Wu H. (Eur J Med Genet 2015) 3 64
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64
  5. Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas. (PMID: 24322175) Kugelberg J. … Gimm O. (World J Surg 2014) 3 64

Products for SDHAF2 Gene

Sources for SDHAF2 Gene

Content
Loading form....