Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SDHAF2 (succinate dehydrogenase complex assembly factor 2)

Identity

Alias_namesPGL2
C11orf79
paraganglioma or familial glomus tumors 2
chromosome 11 open reading frame 79
Alias_symbol (synonym)FLJ20487
SDH5
HGNC (Hugo) SDHAF2
LocusID (NCBI) 54949
Atlas_Id 52113
Location 11q12.2  [Link to chromosome band 11q12]
Location_base_pair Starts at 61197597 and ends at 61214239 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C11orf58 (11p15.1) / SDHAF2 (11q12.2)CAMSAP1 (9q34.3) / SDHAF2 (11q12.2)SDHAF2 (11q12.2) / C11orf85 (11q13.1)
SDHAF2 (11q12.2) / PPP1R32 (11q12.2)SDHAF2 (11q12.2) / RIN1 (11q13.2)SDHAF2 (11q12.2) / TMEM258 (11q12.2)
SDHAF2 11q12.2 / C11orf85 11q13.1SDHAF2 11q12.2 / RIN1 11q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Head and Neck: Paraganglioma: an overview


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Hereditary paraganglioma (PGL)


External links

Nomenclature
HGNC (Hugo)SDHAF2   26034
LRG (Locus Reference Genomic)LRG_519
Cards
Entrez_Gene (NCBI)SDHAF2  54949  succinate dehydrogenase complex assembly factor 2
AliasesC11orf79; PGL2; SDH5
GeneCards (Weizmann)SDHAF2
Ensembl hg19 (Hinxton)ENSG00000167985 [Gene_View]  chr11:61197597-61214239 [Contig_View]  SDHAF2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000167985 [Gene_View]  chr11:61197597-61214239 [Contig_View]  SDHAF2 [Vega]
ICGC DataPortalENSG00000167985
TCGA cBioPortalSDHAF2
AceView (NCBI)SDHAF2
Genatlas (Paris)SDHAF2
WikiGenes54949
SOURCE (Princeton)SDHAF2
Genetics Home Reference (NIH)SDHAF2
Genomic and cartography
GoldenPath hg19 (UCSC)SDHAF2  -     chr11:61197597-61214239 +  11q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SDHAF2  -     11q12.2   [Description]    (hg38-Dec_2013)
EnsemblSDHAF2 - 11q12.2 [CytoView hg19]  SDHAF2 - 11q12.2 [CytoView hg38]
Mapping of homologs : NCBISDHAF2 [Mapview hg19]  SDHAF2 [Mapview hg38]
OMIM601650   613019   
Gene and transcription
Genbank (Entrez)AI039966 AI660205 AK000494 BC002331 BX648946
RefSeq transcript (Entrez)NM_017841
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_023393 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)SDHAF2
Cluster EST : UnigeneHs.313247 [ NCBI ]
CGAP (NCI)Hs.313247
Alternative Splicing GalleryENSG00000167985
Gene ExpressionSDHAF2 [ NCBI-GEO ]   SDHAF2 [ EBI - ARRAY_EXPRESS ]   SDHAF2 [ SEEK ]   SDHAF2 [ MEM ]
Gene Expression Viewer (FireBrowse)SDHAF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54949
GTEX Portal (Tissue expression)SDHAF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NX18   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NX18  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NX18
Splice isoforms : SwissVarQ9NX18
PhosPhoSitePlusQ9NX18
Domains : Interpro (EBI)SDH    SDHAF2   
Domain families : Pfam (Sanger)Sdh5 (PF03937)   
Domain families : Pfam (NCBI)pfam03937   
Conserved Domain (NCBI)SDHAF2
DMDM Disease mutations54949
Blocks (Seattle)SDHAF2
SuperfamilyQ9NX18
Human Protein AtlasENSG00000167985
Peptide AtlasQ9NX18
HPRD07915
IPIIPI00016443   IPI01015352   IPI01011066   IPI01011516   IPI01011370   IPI00978638   IPI01013539   
Protein Interaction databases
DIP (DOE-UCLA)Q9NX18
IntAct (EBI)Q9NX18
FunCoupENSG00000167985
BioGRIDSDHAF2
STRING (EMBL)SDHAF2
ZODIACSDHAF2
Ontologies - Pathways
QuickGOQ9NX18
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial matrix  mitochondrial electron transport, succinate to ubiquinone  protein dephosphorylation  negative regulation of epithelial to mesenchymal transition  protein-FAD linkage  negative regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial matrix  mitochondrial electron transport, succinate to ubiquinone  protein dephosphorylation  negative regulation of epithelial to mesenchymal transition  protein-FAD linkage  negative regulation of canonical Wnt signaling pathway  
NDEx NetworkSDHAF2
Atlas of Cancer Signalling NetworkSDHAF2
Wikipedia pathwaysSDHAF2
Orthology - Evolution
OrthoDB54949
GeneTree (enSembl)ENSG00000167985
Phylogenetic Trees/Animal Genes : TreeFamSDHAF2
HOVERGENQ9NX18
HOGENOMQ9NX18
Homologs : HomoloGeneSDHAF2
Homology/Alignments : Family Browser (UCSC)SDHAF2
Gene fusions - Rearrangements
Fusion : MitelmanSDHAF2/C11orf85 [11q12.2/11q13.1]  
Fusion : MitelmanSDHAF2/RIN1 [11q12.2/11q13.2]  [t(11;11)(q12;q13)]  
Fusion: TCGASDHAF2 11q12.2 C11orf85 11q13.1 BRCA
Fusion: TCGASDHAF2 11q12.2 RIN1 11q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSDHAF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SDHAF2
dbVarSDHAF2
ClinVarSDHAF2
1000_GenomesSDHAF2 
Exome Variant ServerSDHAF2
ExAC (Exome Aggregation Consortium)SDHAF2 (select the gene name)
Genetic variants : HAPMAP54949
Genomic Variants (DGV)SDHAF2 [DGVbeta]
DECIPHER (Syndromes)11:61197597-61214239  ENSG00000167985
CONAN: Copy Number AnalysisSDHAF2 
Mutations
ICGC Data PortalSDHAF2 
TCGA Data PortalSDHAF2 
Broad Tumor PortalSDHAF2
OASIS PortalSDHAF2 [ Somatic mutations - Copy number]
Cancer Gene: CensusSDHAF2 
Somatic Mutations in Cancer : COSMICSDHAF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSDHAF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)TCA Cycle Gene Mutation Database
BioMutasearch SDHAF2
DgiDB (Drug Gene Interaction Database)SDHAF2
DoCM (Curated mutations)SDHAF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SDHAF2 (select a term)
intoGenSDHAF2
Cancer3DSDHAF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601650    613019   
Orphanet8775   
MedgenSDHAF2
Genetic Testing Registry SDHAF2
NextProtQ9NX18 [Medical]
TSGene54949
GENETestsSDHAF2
Huge Navigator SDHAF2 [HugePedia]
snp3D : Map Gene to Disease54949
BioCentury BCIQSDHAF2
ClinGenSDHAF2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54949
Chemical/Pharm GKB GenePA165543618
Clinical trialSDHAF2
Miscellaneous
canSAR (ICR)SDHAF2 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSDHAF2
EVEXSDHAF2
GoPubMedSDHAF2
iHOPSDHAF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:50:50 CET 2016

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