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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SF3B3 Gene

protein-coding   GIFtS: 65
GCID: GC16P070557

Splicing Factor 3b, Subunit 3, 130kDa

(Previous names: splicing factor 3b, subunit 3, 130kD)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Splicing Factor 3b, Subunit 3, 130kDa1 2     Splicing Factor 3b, Subunit 3, 130kD1
SAP1302 3 5     RSE12
Pre-MRNA-Splicing Factor SF3b 130 KDa Subunit2 3     Pre-MRNA Splicing Factor SF3b, 130 KDa Subunit2
Spliceosome-Associated Protein 1302 3     Splicing Factor 3B Subunit 32
SF3b1302 3     KIAA00173
STAF1302 3     SF3B1305
SAP 1302 3     

External Ids:    HGNC: 107701   Entrez Gene: 234502   Ensembl: ENSG000001890917   OMIM: 6055925   UniProtKB: Q153933   

Export aliases for SF3B3 gene to outside databases

Previous GC identifers: GC16P061259 GC16P070978 GC16P070293 GC16P070333 GC16P069115 GC16P056388


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SF3B3 Gene:
This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing
factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing
factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may
anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome.
Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription
coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing
complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair.
(provided by RefSeq, Jul 2008)

GeneCards Summary for SF3B3 Gene: 
SF3B3 (splicing factor 3b, subunit 3, 130kDa) is a protein-coding gene. Diseases associated with SF3B3 include wiskott-aldrich syndrome, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. GO annotations related to this gene include nucleic acid binding. An important paralog of this gene is DDB1.

UniProtKB/Swiss-Prot: SF3B3_HUMAN, Q15393
Function: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2
snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream
of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of
the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare
class of nuclear pre-mRNA intron

Gene Wiki entry for SF3B3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SF3B3 gene promoter:
         RFX1   FOXF2   AP-4   XBP-1   POU6F1 (c2)   E4BP4   RORalpha2   AREB6   FOXC1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSF3B3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SF3B3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SF3B3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22

SF3B3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF3B3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P070557:  view genomic region     (about GC identifiers)

Start:
70,557,691 bp from pter      End:
70,611,571 bp from pter
Size:
53,881 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SF3B3_HUMAN, Q15393 (See protein sequence)
Recommended Name: Splicing factor 3B subunit 3  
Size: 1217 amino acids; 135577 Da
Subunit: Identified in the spliceosome C complex. Component of the U11/U12 snRNPs that are part of the U12-type
spliceosome. Component of splicing factor SF3B which is composed of at least eight subunits;
SF3B1/SAP155/SF3B155, SF3B2/SAP145/SF3B145, SF3B3/SAP130/SF3B130, SF3B4/SAP49/SF3B49, SF3B14A, PHF5A/SF3B14B,
SF3B10 and SF3B125. SF3B associates with the splicing factor SF3A and a 12S RNA unit to form the U2 small nuclear
ribonucleoproteins complex (U2 snRNP). Interaction between SF3B3 and SF3B1 is tighter than the interaction
between SF3B3 and SF3B2. Associates with the STAGA transcription coactivator-HAT complex. Interacts with SUPT3H
Subcellular location: Nucleus
Sequence caution: Sequence=BAA02805.1; Type=Erroneous initiation; Sequence=BAA32662.2; Type=Erroneous initiation;
Secondary accessions: Q6NTI8 Q96GC0 Q9BPY2 Q9UFX7 Q9UJ29
Alternative splicing: 3 isoforms:  Q15393-1   Q15393-2   Q15393-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SF3B3: NX_Q15393

Explore proteomics data for SF3B3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15393

  • SF3B3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SF3B3 Protein Expression
    REFSEQ proteins: NP_036558.3  
    ENSEMBL proteins: 
     ENSP00000305790   ENSP00000454308   ENSP00000461236   ENSP00000463359   ENSP00000461342  
     ENSP00000464126   ENSP00000463253  
    Reactome Protein details: Q15393
    Human Recombinant Protein Products for SF3B3: 
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    Cloud-Clone Corp. Proteins for SF3B3 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex TAS10490618
    GO:0005689U12-type spliceosomal complex IDA15146077
    GO:0030532small nuclear ribonucleoprotein complex TAS10490618

    SF3B3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR004871 Cleavage/polyA-sp_fac_asu_C

    Graphical View of Domain Structure for InterPro Entry Q15393

    ProtoNet protein and cluster: Q15393

    1 Blocks protein domain: IPB004871 CPSF A subunit C-terminal

    UniProtKB/Swiss-Prot: SF3B3_HUMAN, Q15393
    Similarity: Belongs to the RSE1 family


    SF3B3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SF3B3_HUMAN, Q15393
    Function: Subunit of the splicing factor SF3B required for 'A' complex assembly formed by the stable binding of U2
    snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream
    of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of
    the 'E' complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare
    class of nuclear pre-mRNA intron

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding IEA--
    GO:0005515protein binding ----
         
    SF3B3 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for SF3B3:
     Decreased cell number, increas  Decreased influenza A virus in  Decreased number of cells in m  Decreased viability 
     Decreased viability of wild-ty  G2 arrest  Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidSF3B3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SF3B3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA processing0.46
    mRNA Processing0.85
    mRNA Splicing - Minor Pathway0.40
    mRNA Splicing - Major Pathway0.82
    Spliceosome0.31
    mRNA Splicing0.82
    2Generic Transcription Pathway
    Gene Expression0.47
    3Signal transduction Activin A signaling regulation
    Histone modification0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for SF3B3
        Histone modification


    1 BioSystems Pathway for SF3B3
        mRNA processing

    5/6        Reactome Pathways for SF3B3 (see all 6)
        mRNA Splicing - Major Pathway
    mRNA Splicing
    Gene Expression
    mRNA Processing
    mRNA Splicing - Minor Pathway


    1         Kegg Pathway  (Kegg details for SF3B3):
        Spliceosome


    SF3B3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SF3B3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/1067 Interacting proteins for SF3B3 (Q153932, 3 ENSP000003057904) via UniProtKB, MINT, STRING, and/or I2D (see all 1067)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3B1O755332, 3, ENSP000003353214MINT-7945693 MINT-6488590 MINT-6489355 MINT-7947479 MINT-8207078 MINT-6488791 I2D: score=8 STRING: ENSP00000335321
    EEF1A1P681042, 3MINT-6542674 MINT-7945693 MINT-6489539 MINT-6488590 MINT-6489355 MINT-7947479 MINT-6488791 I2D: score=1 
    PRPF8Q6P2Q92, 3, ENSP000003043504MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000304350
    SNRPD3P623182, 3, ENSP000002158294MINT-7945693 MINT-7947479 I2D: score=4 STRING: ENSP00000215829
    NCOR1O753762, 3, ENSP000002687124MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000268712
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions TAS10490618
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006397mRNA processing TAS10490618
    GO:0006461protein complex assembly TAS10490618
    GO:0008380RNA splicing TAS--

    SF3B3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SF3B3

    Search CenterWatch for drugs/clinical trials and news about SF3B3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SF3B3 gene: 
    NM_012426.4  

    Unigene Cluster for SF3B3:

    Splicing factor 3b, subunit 3, 130kDa
    Hs.514435  [show with all ESTs]
    Unigene Representative Sequence: NM_012426
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302516(uc002ezf.3) ENST00000566095 ENST00000577085 ENST00000567654
    ENST00000564899 ENST00000569687 ENST00000572365 ENST00000567635 ENST00000567250
    ENST00000568291 ENST00000568539 ENST00000563739 ENST00000562722 ENST00000565990

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    Additional mRNA sequence: 

    AJ001443.1 AK001297.1 AK074933.1 AK291768.1 AL110251.1 BC000463.1 BC003146.1 BC009780.1 
    BC068974.1 D13642.1 D87686.1 

    24/34 DOTS entries (see all 34):

    DT.100664337  DT.91726090  DT.219320  DT.100664338  DT.100664336  DT.95162443  DT.92456004  DT.95327493 
    DT.97823642  DT.100664340  DT.91752651  DT.99961658  DT.100664333  DT.102835122  DT.40193413  DT.75167598 
    DT.92455989  DT.95325424  DT.100664334  DT.100673181  DT.101956378  DT.101957658  DT.120690605  DT.120690645 

    24/624 AceView cDNA sequences (see all 624):

    AL110251 AA429221 BX481117 CB163399 BQ049834 BE261081 BQ691930 AL041449 
    CD674009 BM972050 AI659451 BE889958 BQ232216 BM468815 BM456496 CA487479 
    CB105577 D87686 AV718134 BU855748 BX354438 BM821796 BE382641 BE727451 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SF3B3 (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a ·
    SP1:              -     -                 -                                                                                                                     
    SP2:                                                                                                                                                        -   
    SP3:                                                                                                                                                            
    SP4:              -     -                 -                                                                                                                     
    SP5:              -                       -                                                                                                                     

    ExUns: 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b · 24c ^ 25 ^ 26a · 26b ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b
    SP1:  -           -                 -                                                           -           -                           
    SP2:  -     -     -     -     -     -                                                                                                   
    SP3:  -           -     -     -     -                                                                                                   
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for SF3B3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SF3B3 expression in normal human tissues (normalized intensities)      SF3B3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCCAGGTT
    SF3B3 Expression
    About this image


    SF3B3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/35 selected tissues (see all 35) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See SF3B3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SF3B3

    SOURCE GeneReport for Unigene cluster: Hs.514435
        SABiosciences Custom PCR Arrays for SF3B3
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SF3B3 gene from 10/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf3b31 , 5 splicing factor 3b, subunit 31, 5 90.77(n)1
    99.92(a)1
      8 (57.73 cM)5
    1019431  NM_133953.21  NP_598714.11 
     1108104925 
    chicken
    (Gallus gallus)
    Aves SF3B31 splicing factor 3b, subunit 3, 130kDa 82.74(n)
    99.18(a)
      415680  XM_001232347.2  XP_001232348.2 
    lizard
    (Anolis carolinensis)
    Reptilia SF3B36
    Uncharacterized protein
    98(a)
    1 ↔ 1
    GL343539.1(79562-108340)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.76172 Xenopus laevis transcribed sequence with moderate similarity more 78.62(n)    BU911752.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb81f052 Danio rerio mRNA similar to splicing factor 3b, subunit more 78.85(n)    BC047171.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG139001 , 3 mRNA splicing damaged DNA binding3
    CG139001
    75(a)3
    66.56(n)1
    75.76(a)1
      61D23
    380931  NM_167842.11  NP_728546.11 
    worm
    (Caenorhabditis elegans)
    Secernentea K02F2.33
    teg-41
    Protein TEG-41 60(a)3
    59.46(n)1
    61.67(a)1
      I(6822596-6842468)3
    1724061  NM_059552.21  NP_491953.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RSE1(YML049C)4 Protein involved in pre-mRNA splicing; component of more   --   13(178305-174220) 854956  NP_013663.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G552001 splicing factor 3B subunit 3 59.57(n)
    58.77(a)
      824686  NM_115378.3  NP_567015.1 
    rice
    (Oryza sativa)
    Liliopsida Os.178192 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.55(n)    AK068480.1 


    ENSEMBL Gene Tree for SF3B3 (if available)
    TreeFam Gene Tree for SF3B3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SF3B3 gene
    DDB12  

    SF3B3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/992 SNPs in SF3B3 are shown (see all 992)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80496411,2
    C,F,A,H--70559548(+) GTTTTC/ACTGTG 1 -- int123Minor allele frequency- A:0.39NS EA NA WA CSA 2480
    rs1506128461,2
    --70559585(+) AGTCTA/GTGGGC 1 -- int10--------
    rs348909621,2
    C,F--70559666(-) GTCTCC/GATCTC 1 -- int13Minor allele frequency- G:0.40NA CSA 5
    rs80501961,2
    C--70559882(+) aaaaaT/Aaggaa 1 -- int1 trp31Minor allele frequency- A:0.00WA 2
    rs2014538371,2
    C--70559896(-) TATATC/TTTTTT 1 -- int10--------
    rs1446709811,2
    --70559968(+) TCTTGC/TCACCC 1 -- int10--------
    rs80520311,2
    C,A--70560121(+) TATTTA/TTTTTT 1 -- int1 trp36Minor allele frequency- T:0.37WA CSA NA EA 363
    rs1479056391,2
    C--70560236(+) CTCCCG/TAGTAG 1 -- int10--------
    rs1417143311,2
    --70560253(+) CTACAG/TGCGCA 1 -- int10--------
    rs1468297451,2
    C--70560308(+) GTTTCA/GCTGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SF3B3 (70557691 - 70611571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SF3B3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833272CNV Loss17160897
    nsv103855CNV Loss16902084
    nsv7285OTHER Inversion18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605592    OMIM disorders: --

    2 diseases for SF3B3:    About MalaCards
    wiskott-aldrich syndrome    


    SF3B3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SF3B3
    Human Genome Epidemiology (HuGE) Navigator: SF3B3 (1 document)

    Export disorders for SF3B3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SF3B3 gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with SF3B3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of a protein complex containing spliceosomal proteins saps 49,130,145 and 155. (PubMed id 10490618)1, 2, 3 Das B.K.... Reed R. (1999)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome. (PubMed id 15146077)1, 2 Will C.L.... Luehrmann R. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (2002)
    6. Characterization of novel SF3b and 17S U2 snRNP proteins, including a human Prp5p homologue and an SF3b DEAD-box protein. (PubMed id 12234937)1, 2 Will C.L....Luhrmann R. (2002)
    7. Human STAGA complex is a chromatin-acetylating transcription coactivator that interacts with pre-mRNA splicing and DNA damage- binding factors in vivo. (PubMed id 11564863)1, 2 Martinez E.... Roeder R.G. (2001)
    8. The TFIID components human TAFII140 and Drosophila BIP2 (TAFII155) are novel metazoan homologues of yeast TAFII47 containing a histone fold and a PHD finger. (PubMed id 11438666)1, 2 Gangloff Y.G.... Davidson I. (2001)
    9. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PubMed id 7584026)1, 2 Nomura N.... Tabata S. (1994)
    10. UV-damaged DNA-binding protein in the TFTC complex links DNA damage recognition to nucleosome acetylation. (PubMed id 11406595)1, 9 Brand M....Tora L. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23450 HGNC: 10770 AceView: SF3B3 Ensembl:ENSG00000189091 euGenes: HUgn23450
    ECgene: SF3B3 Kegg: 23450 H-InvDB: SF3B3

    (According to HUGE)
    About This Section
    HUGE: KIAA0017

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SF3B3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SF3B3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SF3B3 gene:
    Search GeneIP for patents involving SF3B3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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