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Aliases for SDHAF2 Gene

Aliases for SDHAF2 Gene

  • Succinate Dehydrogenase Complex Assembly Factor 2 2 3
  • PGL2 3 4 6
  • SDH5 3 4 6
  • SDH Assembly Factor 2 3 4
  • C11orf79 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 Symbols for SDHAF2 Gene

  • PGL2
  • C11orf79

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 neural crest tumor. 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

Genomic Location for SDHAF2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SDHAF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHAF2 Gene

No data available for Regulatory Elements 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
    Secondary Accessions:

    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

Proteomics data for SDHAF2 Gene at MOPED

Post-translational modifications for SDHAF2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys100 and Lys164

No data available for DME Specific Peptides for SDHAF2 Gene

Domains for SDHAF2 Gene

Gene Families for SDHAF2 Gene

HGNC:
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for SDHAF2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

SDHF2_HUMAN
Family:
  • Belongs to the SDHAF2 family.:
    • Q9NX18
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

miRNA for SDHAF2 Gene

miRTarBase miRNAs that target SDHAF2

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for SDHAF2 Gene COMPARTMENTS Subcellular localization image for SDHAF2 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
peroxisome 2
extracellular 1
vacuole 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 for SDHAF2 Gene

SuperPathways for SDHAF2 Gene

No Data Available

Interacting Proteins for SDHAF2 Gene

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

No data available for Pathways by source for SDHAF2 Gene

Transcripts for SDHAF2 Gene

mRNA/cDNA for SDHAF2 Gene

Unigene Clusters for SDHAF2 Gene

Succinate dehydrogenase complex assembly factor 2:
Representative Sequences:

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 for SDHAF2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SDHAF2 Gene

SOURCE GeneReport for Unigene cluster for SDHAF2 Gene Hs.313247

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

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 36
  • 99.39 (n)
  • 98.79 (a)
SDHAF2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SDHAF2 36
  • 88.89 (n)
  • 90.3 (a)
SDHAF2 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SDHAF2 36
  • 89.02 (n)
  • 89.63 (a)
SDHAF2 37
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdhaf2 36
  • 89.78 (n)
  • 92.02 (a)
Sdhaf2 16
Sdhaf2 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sdhaf2 36
  • 88.62 (n)
  • 91.46 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 66 (a)
OneToMany
LOC426015 36
  • 67.1 (n)
  • 70.32 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sdhaf2 36
  • 63.33 (n)
  • 62 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13801 36
zebrafish
(Danio rerio)
Actinopterygii sdhaf2 36
  • 62.99 (n)
  • 62.07 (a)
sdhaf2 37
  • 56 (a)
OneToMany
wufj30e04 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012191 36
  • 53.39 (n)
  • 49.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12895 37
  • 43 (a)
ManyToMany
CG14757 36
  • 55.35 (n)
  • 55.96 (a)
CG14757 37
  • 42 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea Y57A10A.29 37
  • 37 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER200C 36
  • 56.43 (n)
  • 50 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EMI5 36
  • 54.82 (n)
  • 48.76 (a)
EMI5 37
  • 36 (a)
OneToMany
EMI5 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13333g 36
  • 55.46 (n)
  • 51.26 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01343 36
  • 51.74 (n)
  • 52.08 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToMany
Species with no ortholog for SDHAF2:
  • 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 MAF
rs6632 -- 61,446,527(+) TTCCA(A/G)CCTGG utr-variant-3-prime
rs17702 -- 61,446,448(-) TTTCC(A/G)TACAG utr-variant-3-prime
rs879647 -- 61,437,962(-) GAAGG(C/T)TGTGT intron-variant
rs896831 -- 61,436,889(+) TTGTC(A/C)ACTTC intron-variant
rs896832 -- 61,437,167(+) TGGCT(A/G)TAAAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832178 CNV Gain+Loss 17160897
nsv897603 CNV Loss 21882294

Relevant External Links for SDHAF2 Gene

HapMap Linkage Disequilibrium report
SDHAF2
Human Gene Mutation Database (HGMD)
SDHAF2
Locus Specific Mutation Databases (LSDB)
SDHAF2

Disorders for SDHAF2 Gene

(1) OMIM Diseases for SDHAF2 Gene (613019)

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.

(2) University of Copenhagen DISEASES for SDHAF2 Gene

Relevant External Links for SDHAF2

GeneTests
SDHAF2
GeneReviews
SDHAF2
Genetic Association Database (GAD)
SDHAF2
Human Genome Epidemiology (HuGE) Navigator
SDHAF2
genes like me logo Genes that share disorders with SDHAF2: view

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
  2. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (PMID: 19915015) Gaal J. … Dinjens W.N. (J. Clin. Endocrinol. Metab. 2010) 3
  3. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. (PMID: 20071235) Bayley J.P. … Robledo M. (Lancet Oncol. 2010) 3
  4. Hereditary Paraganglioma-Pheochromocytoma Syndromes (PMID: 20301715) Pagon R.A. … Stephens K. ( 1993) 3
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3

Products for SDHAF2 Gene

Sources for SDHAF2 Gene

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