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SBF2 (SET binding factor 2)

Identity

Alias_namesCMT4B2
Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)
DENN/MADD domain containing 7B
Alias_symbol (synonym)KIAA1766
MTMR13
DENND7B
Other alias
HGNC (Hugo) SBF2
LocusID (NCBI) 81846
Atlas_Id 53828
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 9778667 and ends at 10294207 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DENND5A (11p15.4) / SBF2 (11p15.4)HECW2 (2q32.3) / SBF2 (11p15.4)SBF2 (11p15.4) / ATP6V0A1 (17q21.2)
SBF2 (11p15.4) / EXT2 (11p11.2)SBF2 (11p15.4) / FEZ1 (11q24.2)SBF2 (11p15.4) / MDM2 (12q15)
SBF2 (11p15.4) / MRVI1 (11p15.4)SBF2 (11p15.4) / PDE3B (11p15.2)SBF2 (11p15.4) / PGAP2 (11p15.4)
SBF2 (11p15.4) / PRMT3 (11p15.1)SBF2 (11p15.4) / RBBP6 (16p12.1)SBF2 (11p15.4) / SBF2 (11p15.4)
SBF2 (11p15.4) / TMEM99 (17q21.2)SMOC1 (14q24.2) / SBF2 (11p15.4)DENND5A 11p15.4 / SBF2 11p15.4
SBF2 11p15.4 / FEZ1 11q24.2SBF2 11p15.4 / MDM2 12q15SBF2 11p15.4 / MRVI1 11p15.4
SBF2 11p15.4 / PDE3B 11p15.2SBF2 11p15.4 / PGAP2 11p15.4SBF2 11p15.4 / PRMT3 11p15.1
SBF2 11p15.4 / TMEM99 17q21.2

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

 


External links

Nomenclature
HGNC (Hugo)SBF2   2135
LRG (Locus Reference Genomic)LRG_267
Cards
Entrez_Gene (NCBI)SBF2  81846  SET binding factor 2
AliasesCMT4B2; DENND7B; MTMR13
GeneCards (Weizmann)SBF2
Ensembl hg19 (Hinxton)ENSG00000133812 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133812 [Gene_View]  chr11:9778667-10294207 [Contig_View]  SBF2 [Vega]
ICGC DataPortalENSG00000133812
TCGA cBioPortalSBF2
AceView (NCBI)SBF2
Genatlas (Paris)SBF2
WikiGenes81846
SOURCE (Princeton)SBF2
Genetics Home Reference (NIH)SBF2
Genomic and cartography
GoldenPath hg38 (UCSC)SBF2  -     chr11:9778667-10294207 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SBF2  -     11p15.4   [Description]    (hg19-Feb_2009)
EnsemblSBF2 - 11p15.4 [CytoView hg19]  SBF2 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBISBF2 [Mapview hg19]  SBF2 [Mapview hg38]
OMIM604563   607697   
Gene and transcription
Genbank (Entrez)AB051553 AF085830 AI268862 AK022478 AK026571
RefSeq transcript (Entrez)NM_030962
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SBF2
Cluster EST : UnigeneHs.577252 [ NCBI ]
CGAP (NCI)Hs.577252
Alternative Splicing GalleryENSG00000133812
Gene ExpressionSBF2 [ NCBI-GEO ]   SBF2 [ EBI - ARRAY_EXPRESS ]   SBF2 [ SEEK ]   SBF2 [ MEM ]
Gene Expression Viewer (FireBrowse)SBF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)81846
GTEX Portal (Tissue expression)SBF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86WG5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86WG5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86WG5
Splice isoforms : SwissVarQ86WG5
PhosPhoSitePlusQ86WG5
Domaine pattern : Prosite (Expaxy)DDENN (PS50947)    DENN (PS50211)    PH_DOMAIN (PS50003)    PPASE_MYOTUBULARIN (PS51339)    UDENN (PS50946)   
Domains : Interpro (EBI)dDENN_dom    DENN_dom    GRAM    MTMR13    Myotubularin-like_Pase_dom    Myotubularin_fam    PH_dom-like    PH_domain    Prot-tyrosine_phosphatase-like    SBF1/SBF2    uDENN_dom   
Domain families : Pfam (Sanger)DENN (PF02141)    GRAM (PF02893)    Myotub-related (PF06602)    PH (PF00169)    SBF2 (PF12335)    uDENN (PF03456)   
Domain families : Pfam (NCBI)pfam02141    pfam02893    pfam06602    pfam00169    pfam12335    pfam03456   
Domain families : Smart (EMBL)dDENN (SM00801)  DENN (SM00799)  GRAM (SM00568)  PH (SM00233)  uDENN (SM00800)  
Conserved Domain (NCBI)SBF2
DMDM Disease mutations81846
Blocks (Seattle)SBF2
SuperfamilyQ86WG5
Human Protein AtlasENSG00000133812
Peptide AtlasQ86WG5
HPRD09649
IPIIPI00719299   IPI00985302   IPI00470399   IPI00654703   IPI00983192   IPI00974300   
Protein Interaction databases
DIP (DOE-UCLA)Q86WG5
IntAct (EBI)Q86WG5
FunCoupENSG00000133812
BioGRIDSBF2
STRING (EMBL)SBF2
ZODIACSBF2
Ontologies - Pathways
QuickGOQ86WG5
Ontology : AmiGOprotein binding  vacuolar membrane  cytosol  membrane  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  phosphatase regulator activity  phosphatase binding  phosphatidylinositol binding  myelination  protein homodimerization activity  positive regulation of GTPase activity  protein tetramerization  membrane organization  
Ontology : EGO-EBIprotein binding  vacuolar membrane  cytosol  membrane  Rab guanyl-nucleotide exchange factor activity  Rab guanyl-nucleotide exchange factor activity  phosphatase regulator activity  phosphatase binding  phosphatidylinositol binding  myelination  protein homodimerization activity  positive regulation of GTPase activity  protein tetramerization  membrane organization  
NDEx NetworkSBF2
Atlas of Cancer Signalling NetworkSBF2
Wikipedia pathwaysSBF2
Orthology - Evolution
OrthoDB81846
GeneTree (enSembl)ENSG00000133812
Phylogenetic Trees/Animal Genes : TreeFamSBF2
HOVERGENQ86WG5
HOGENOMQ86WG5
Homologs : HomoloGeneSBF2
Homology/Alignments : Family Browser (UCSC)SBF2
Gene fusions - Rearrangements
Fusion : MitelmanDENND5A/SBF2 [11p15.4/11p15.4]  [t(11;11)(p15;p15)]  
Fusion : MitelmanSBF2/FEZ1 [11p15.4/11q24.2]  [t(11;11)(p15;q24)]  
Fusion : MitelmanSBF2/MDM2 [11p15.4/12q15]  [t(11;12)(p15;q15)]  
Fusion : MitelmanSBF2/MRVI1 [11p15.4/11p15.4]  [t(11;11)(p15;p15)]  
Fusion : MitelmanSBF2/PDE3B [11p15.4/11p15.2]  [t(11;11)(p15;p15)]  
Fusion : MitelmanSBF2/PGAP2 [11p15.4/11p15.4]  [t(11;11)(p15;p15)]  
Fusion : MitelmanSBF2/PRMT3 [11p15.4/11p15.1]  [t(11;11)(p15;p15)]  
Fusion : MitelmanSBF2/TMEM99 [11p15.4/17q21.2]  [t(11;17)(p15;q21)]  
Fusion: TCGADENND5A 11p15.4 SBF2 11p15.4 BRCA
Fusion: TCGASBF2 11p15.4 FEZ1 11q24.2 BRCA
Fusion: TCGASBF2 11p15.4 MDM2 12q15 BRCA
Fusion: TCGASBF2 11p15.4 MRVI1 11p15.4 LUSC
Fusion: TCGASBF2 11p15.4 PDE3B 11p15.2 LUAD
Fusion: TCGASBF2 11p15.4 PGAP2 11p15.4 BRCA
Fusion: TCGASBF2 11p15.4 PRMT3 11p15.1 LUSC
Fusion: TCGASBF2 11p15.4 TMEM99 17q21.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSBF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SBF2
dbVarSBF2
ClinVarSBF2
1000_GenomesSBF2 
Exome Variant ServerSBF2
ExAC (Exome Aggregation Consortium)SBF2 (select the gene name)
Genetic variants : HAPMAP81846
Genomic Variants (DGV)SBF2 [DGVbeta]
DECIPHERSBF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSBF2 
Mutations
ICGC Data PortalSBF2 
TCGA Data PortalSBF2 
Broad Tumor PortalSBF2
OASIS PortalSBF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSBF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSBF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SBF2
DgiDB (Drug Gene Interaction Database)SBF2
DoCM (Curated mutations)SBF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SBF2 (select a term)
intoGenSBF2
Cancer3DSBF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604563    607697   
Orphanet14529   
MedgenSBF2
Genetic Testing Registry SBF2
NextProtQ86WG5 [Medical]
TSGene81846
GENETestsSBF2
Target ValidationSBF2
Huge Navigator SBF2 [HugePedia]
snp3D : Map Gene to Disease81846
BioCentury BCIQSBF2
ClinGenSBF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD81846
Chemical/Pharm GKB GenePA26649
Clinical trialSBF2
Miscellaneous
canSAR (ICR)SBF2 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSBF2
EVEXSBF2
GoPubMedSBF2
iHOPSBF2
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 12:54:26 CEST 2017

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