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SF3A2 (splicing factor 3a subunit 2)

Identity

Alias_namessplicing factor 3a, subunit 2, 66kD
splicing factor 3a, subunit 2, 66kDa
Alias_symbol (synonym)SF3a66
SAP62
PRPF11
Prp11
Other aliasPRP11
HGNC (Hugo) SF3A2
LocusID (NCBI) 8175
Atlas_Id 54612
Location 19p13.3  [Link to chromosome band 19p13]
Location_base_pair Starts at 2236817 and ends at 2248679 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HSPA5 (9q33.3) / SF3A2 (19p13.3)IRF3 (19q13.33) / SF3A2 (19p13.3)OAZ1 (19p13.3) / SF3A2 (19p13.3)
SF3A2 (19p13.3) / AZU1 (19p13.3)SF3A2 19p13.3 / AZU1 19p13.3

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 ]
  Lung: Translocations in Adenocarcinoma


External links

Nomenclature
HGNC (Hugo)SF3A2   10766
Cards
Entrez_Gene (NCBI)SF3A2  8175  splicing factor 3a subunit 2
AliasesPRP11; PRPF11; SAP62; SF3a66
GeneCards (Weizmann)SF3A2
Ensembl hg19 (Hinxton)ENSG00000104897 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104897 [Gene_View]  chr19:2236817-2248679 [Contig_View]  SF3A2 [Vega]
ICGC DataPortalENSG00000104897
TCGA cBioPortalSF3A2
AceView (NCBI)SF3A2
Genatlas (Paris)SF3A2
WikiGenes8175
SOURCE (Princeton)SF3A2
Genetics Home Reference (NIH)SF3A2
Genomic and cartography
GoldenPath hg38 (UCSC)SF3A2  -     chr19:2236817-2248679 +  19p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SF3A2  -     19p13.3   [Description]    (hg19-Feb_2009)
EnsemblSF3A2 - 19p13.3 [CytoView hg19]  SF3A2 - 19p13.3 [CytoView hg38]
Mapping of homologs : NCBISF3A2 [Mapview hg19]  SF3A2 [Mapview hg38]
OMIM600796   
Gene and transcription
Genbank (Entrez)AK314815 BC004434 BC009903 BC015804 BG325385
RefSeq transcript (Entrez)NM_007165
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SF3A2
Cluster EST : UnigeneHs.115232 [ NCBI ]
CGAP (NCI)Hs.115232
Alternative Splicing GalleryENSG00000104897
Gene ExpressionSF3A2 [ NCBI-GEO ]   SF3A2 [ EBI - ARRAY_EXPRESS ]   SF3A2 [ SEEK ]   SF3A2 [ MEM ]
Gene Expression Viewer (FireBrowse)SF3A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8175
GTEX Portal (Tissue expression)SF3A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15428   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15428  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15428
Splice isoforms : SwissVarQ15428
PhosPhoSitePlusQ15428
Domaine pattern : Prosite (Expaxy)ZF_MATRIN (PS50171)   
Domains : Interpro (EBI)SF3A2_dom    Znf_C2H2_matrin    Znf_U1   
Domain families : Pfam (Sanger)SF3A2 (PF16835)   
Domain families : Pfam (NCBI)pfam16835   
Domain families : Smart (EMBL)ZnF_U1 (SM00451)  
Conserved Domain (NCBI)SF3A2
DMDM Disease mutations8175
Blocks (Seattle)SF3A2
SuperfamilyQ15428
Human Protein AtlasENSG00000104897
Peptide AtlasQ15428
HPRD02877
IPIIPI00017341   
Protein Interaction databases
DIP (DOE-UCLA)Q15428
IntAct (EBI)Q15428
FunCoupENSG00000104897
BioGRIDSF3A2
STRING (EMBL)SF3A2
ZODIACSF3A2
Ontologies - Pathways
QuickGOQ15428
Ontology : AmiGOmRNA 3'-splice site recognition  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  spliceosomal complex  U2 snRNP  mRNA processing  zinc ion binding  RNA splicing  positive regulation of neuron projection development  nuclear speck  small nuclear ribonucleoprotein complex  U2-type prespliceosome  catalytic step 2 spliceosome  
Ontology : EGO-EBImRNA 3'-splice site recognition  mRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  spliceosomal complex  U2 snRNP  mRNA processing  zinc ion binding  RNA splicing  positive regulation of neuron projection development  nuclear speck  small nuclear ribonucleoprotein complex  U2-type prespliceosome  catalytic step 2 spliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkSF3A2
Atlas of Cancer Signalling NetworkSF3A2
Wikipedia pathwaysSF3A2
Orthology - Evolution
OrthoDB8175
GeneTree (enSembl)ENSG00000104897
Phylogenetic Trees/Animal Genes : TreeFamSF3A2
HOVERGENQ15428
HOGENOMQ15428
Homologs : HomoloGeneSF3A2
Homology/Alignments : Family Browser (UCSC)SF3A2
Gene fusions - Rearrangements
Fusion : MitelmanOAZ1/SF3A2 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion : MitelmanSF3A2/AZU1 [19p13.3/19p13.3]  [t(19;19)(p13;p13)]  
Fusion: TCGASF3A2 19p13.3 AZU1 19p13.3 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSF3A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SF3A2
dbVarSF3A2
ClinVarSF3A2
1000_GenomesSF3A2 
Exome Variant ServerSF3A2
ExAC (Exome Aggregation Consortium)SF3A2 (select the gene name)
Genetic variants : HAPMAP8175
Genomic Variants (DGV)SF3A2 [DGVbeta]
DECIPHERSF3A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSF3A2 
Mutations
ICGC Data PortalSF3A2 
TCGA Data PortalSF3A2 
Broad Tumor PortalSF3A2
OASIS PortalSF3A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSF3A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSF3A2
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
BioMutasearch SF3A2
DgiDB (Drug Gene Interaction Database)SF3A2
DoCM (Curated mutations)SF3A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SF3A2 (select a term)
intoGenSF3A2
Cancer3DSF3A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600796   
Orphanet
MedgenSF3A2
Genetic Testing Registry SF3A2
NextProtQ15428 [Medical]
TSGene8175
GENETestsSF3A2
Target ValidationSF3A2
Huge Navigator SF3A2 [HugePedia]
snp3D : Map Gene to Disease8175
BioCentury BCIQSF3A2
ClinGenSF3A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8175
Chemical/Pharm GKB GenePA35684
Clinical trialSF3A2
Miscellaneous
canSAR (ICR)SF3A2 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSF3A2
EVEXSF3A2
GoPubMedSF3A2
iHOPSF3A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:55:11 CEST 2017

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