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

SF3B2 Gene

protein-coding   GIFtS: 58
GCID: GC11P065827

Splicing Factor 3b, Subunit 2, 145kDa

(Previous names: splicing factor 3b, subunit 2, 145kD)
  See related diseases
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 2, 145kDa1 2     Splicing Factor 3b, Subunit 2, 145kD1
SAP1452 3 5     Cus12
Pre-MRNA-Splicing Factor SF3b 145 KDa Subunit2 3     SF3b12
Spliceosome-Associated Protein 1452 3     Pre-MRNA Splicing Factor SF3b 145 KDa Subunit2
SF3b1502 3     Spliceosome Associated Protein 1452
SAP 1452 3     Splicing Factor 3B Subunit 22
SF3B1452 5     SF3b1453

External Ids:    HGNC: 107691   Entrez Gene: 109922   Ensembl: ENSG000000873657   OMIM: 6055915   UniProtKB: Q134353   

Export aliases for SF3B2 gene to outside databases

Previous GC identifers: GC11P068353 GC11P067501 GC11P066069 GC11P065594 GC11P065576 GC11P065825 GC11P062145


(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 SF3B2 Gene:
This gene encodes subunit 2 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 2 associates with pre-mRNA upstream of the branch site at the anchoring site. Subunit 2 also interacts
directly with subunit 4 of the splicing factor 3b complex. Subunit 2 is a highly hydrophilic protein with a
proline-rich N-terminus and a glutamate-rich stretch in the C-terminus. (provided by RefSeq, Jul 2008)

GeneCards Summary for SF3B2 Gene: 
SF3B2 (splicing factor 3b, subunit 2, 145kDa) is a protein-coding gene. Diseases associated with SF3B2 include leiomyoma, and herpes simplex, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. GO annotations related to this gene include nucleic acid binding.

UniProtKB/Swiss-Prot: SF3B2_HUMAN, Q13435
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 SF3B2 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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SF3B2 gene promoter:
         Max1   RFX1   NF-1/L   NF-1   Elk-1   Pax-5   AP-1   ATF-2   MIF-1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSF3B2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SF3B2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SF3B2


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

Entrez Gene cytogenetic band: 11q13.1   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

SF3B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF3B2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P065827:  view genomic region     (about GC identifiers)

Start:
65,818,200 bp from pter      End:
65,836,779 bp from pter
Size:
18,580 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: SF3B2_HUMAN, Q13435 (See protein sequence)
Recommended Name: Splicing factor 3B subunit 2  
Size: 895 amino acids; 100228 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). SF3B2 interacts directly with SF3B4. Interacts with HIV-1 Vpr
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=AAA97461.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAA97461.1; Type=Frameshift; Positions=28; Sequence=AAH53577.1; Type=Miscellaneous discrepancy;
Note=Contaminating sequence. Potential poly-A sequence; Sequence=BAG61831.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for SF3B2:
2DO5 (3D)    
Secondary accessions: A8K485 B4DT19 Q7L4T5 Q7Z627 Q969K1 Q96CM6 Q9BWD2

Explore the universe of human proteins at neXtProt for SF3B2: NX_Q13435

Explore proteomics data for SF3B2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13435

  • SF3B2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SF3B2 Protein Expression
    REFSEQ proteins: NP_006833.2  
    ENSEMBL proteins: 
     ENSP00000432655   ENSP00000318861   ENSP00000435495   ENSP00000431908   ENSP00000431520  
     ENSP00000435765   ENSP00000436757  
    Reactome Protein details: Q13435
    Human Recombinant Protein Products for SF3B2: 
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    Novus Biologicals SF3B2 Lysates
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SF3B2 

    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 IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529
    GO:0005689U12-type spliceosomal complex IDA15146077
    GO:0005730NOT nucleolus IDA--

    SF3B2 for ontologies           About GeneDecksing



    SF3B2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006568 PSP
     IPR007180 DUF382
     IPR003034 SAP_dom

    Graphical View of Domain Structure for InterPro Entry Q13435

    ProtoNet protein and cluster: Q13435

    2 Blocks protein domains:
    IPB003034 DNA-binding SAP
    IPB006568 PSP


    UniProtKB/Swiss-Prot: SF3B2_HUMAN, Q13435
    Similarity: Contains 1 SAP domain


    SF3B2 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: SF3B2_HUMAN, Q13435
    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 IPI16189514
         
    SF3B2 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for SF3B2:
     Decreased influenza A virus in  Decreased viability  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SF3B2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SF3B2 
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    hsa-miR-4261 hsa-miR-520d-5p hsa-miR-130b* hsa-miR-524-5p hsa-miR-548b-3p
    SwitchGear 3'UTR luciferase reporter plasmidSF3B2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF3B2


    (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 SF3B2 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SF3B2
        mRNA processing

    5/6        Reactome Pathways for SF3B2 (see all 6)
        mRNA Splicing - Major Pathway
    mRNA Splicing
    Gene Expression
    mRNA Processing
    mRNA Splicing - Minor Pathway


    1         Kegg Pathway  (Kegg details for SF3B2):
        Spliceosome


    SF3B2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SF3B2

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

    5/939 Interacting proteins for SF3B2 (Q134352, 3 ENSP000003188614) via UniProtKB, MINT, STRING, and/or I2D (see all 939)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SF3B1O755332, 3, ENSP000003353214MINT-7945693 MINT-6488590 MINT-6489355 MINT-7947479 MINT-8207078 I2D: score=1 STRING: ENSP00000335321
    SF3B4Q154272, 3, ENSP000002716284MINT-7945693 MINT-8332328 MINT-8333515 I2D: score=5 STRING: ENSP00000271628
    SF3A2Q154282, 3, ENSP000002214944MINT-5205476 MINT-7947479 I2D: score=2 STRING: ENSP00000221494
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000326261
    EPS8L2Q9H6S32, 3MINT-7945693 MINT-7947479 I2D: score=4 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006397mRNA processing TAS8566756
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--
    GO:0019048modulation by virus of host morphology or physiology IEA--

    SF3B2 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 SF3B2

    Search CenterWatch for drugs/clinical trials and news about SF3B2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 SF3B2 gene: 
    NM_006842.2  

    Unigene Cluster for SF3B2:

    Splicing factor 3b, subunit 2, 145kDa
    Hs.406423  [show with all ESTs]
    Unigene Representative Sequence: NM_006842
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000529577 ENST00000534307 ENST00000528302 ENST00000322535(uc001ogx.1 uc001ogy.1)
    ENST00000524627 ENST00000533595 ENST00000531041 ENST00000531589 ENST00000530322
    ENST00000524475 ENST00000533421 ENST00000526653 ENST00000525207 ENST00000529994
    ENST00000530981 ENST00000534765
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate SF3B2:
    hsa-miR-4261 hsa-miR-520d-5p hsa-miR-130b* hsa-miR-524-5p hsa-miR-548b-3p
    SwitchGear 3'UTR luciferase reporter plasmidSF3B2 3' UTR sequence
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    Additional mRNA sequence: 

    AK290850.1 AK300016.1 BC000401.2 BC007610.1 BC014125.2 BC051237.1 BC053577.1 BX537771.1 
    U41371.1 

    24/31 DOTS entries (see all 31):

    DT.99980629  DT.448681  DT.100059644  DT.100660663  DT.100660660  DT.95272329  DT.95310541  DT.95272343 
    DT.100660666  DT.102835748  DT.433578  DT.95272323  DT.86841098  DT.100660665  DT.95259573  DT.100803108 
    DT.100863040  DT.120715150  DT.91832863  DT.92391931  DT.95107061  DT.95180310  DT.95235736  DT.95272332 

    24/854 AceView cDNA sequences (see all 854):

    BU682565 BI335917 BE881494 AW027815 BE894339 AA543090 BP429624 BM853129 
    BQ684749 BU157882 BM784265 BE395989 BE272502 BQ652198 BQ070055 BF684335 
    CB153050 AI589455 BU521492 BM844767 BE740982 BM541616 BE791803 CB155961 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for SF3B2 (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a ·
    SP1:                                                              -                                               -     -                                       
    SP2:                                                              -                 -     -     -     -           -     -                                       
    SP3:                                                              -                                                                                             
    SP4:                                                              -                                                                                             
    SP5:                                                              -                                               -     -                                       

    ExUns: 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22a · 22b
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for SF3B2

    (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

    SF3B2 expression in normal human tissues (normalized intensities)      SF3B2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTTATTTT
    SF3B2 Expression
    About this image


    SF3B2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/36 selected tissues (see all 36) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular 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

    See SF3B2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SF3B2

    SOURCE GeneReport for Unigene cluster: Hs.406423
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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 SF3B2 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf3b21 , 5 splicing factor 3b, subunit 21, 5 89.67(n)1
    97.72(a)1
      19 (4.29 cM)5
    3193221  NM_030109.21  NP_084385.21 
     52739235 
    lizard
    (Anolis carolinensis)
    Reptilia SF3B26
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343832.1(8885-37047)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.66842 Xenopus laevis transcribed sequence with moderate similarity more 77.22(n)    BU901097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb53c072 wufb53c07 78.87(n)   322210  CA471036.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG36051 , 3 mRNA splicing pre-mRNA splicing factor3
    CG36051
    64(a)3
    62.63(n)1
    62.69(a)1
      23C53
    335141  NM_134895.31  NP_608739.11 
    worm
    (Caenorhabditis elegans)
    Secernentea W03F9.103
    CELE_W03F9.101
    Protein W03F9.101 50(a)3
    57.69(n)1
    54.55(a)1
      V(127982-129171)3
    1785421  NM_070740.31  NP_503141.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CUS1(YMR240C)4 Protein required for assembly of U2 snRNP into the more   --   13(751240-749930) 855281  NP_013967.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G216601 splicing factor 3B subunit 2 54.36(n)
    50.73(a)
      828253  NM_118286.3  NP_193897.2 
    rice
    (Oryza sativa)
    Liliopsida Os.265012 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.9(n)    AK069159.1 


    ENSEMBL Gene Tree for SF3B2 (if available)
    TreeFam Gene Tree for SF3B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SF3B2 gene
    1 SIMAP similar gene for SF3B2 using alignment to 7 protein entries:     SF3B2_HUMAN (see all proteins):
    DKFZp781L0540

    SF3B2 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

    10/393 SNPs in SF3B2 are shown (see all 393)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs5601051,2
    C,F--65818832(-) AGAGGC/TAGAGA 1 -- us2k14Minor allele frequency- T:0.07NA WA 124
    rs1390187151,2
    C--65818888(+) GTGGGA/GCCCCC 1 -- us2k10--------
    rs22413041,2
    C,F,H--65819014(-) GCGTTC/TAAGAG 1 -- us2k16Minor allele frequency- T:0.11NS EA WA 646
    rs32172081,2
    C--65819173(-) ATGTC-/GTC   
       TTCTC
    CACTA
    1 -- us2k10--------
    rs754359571,2
    F--65819193(+) GAGCCG/AGCCTG 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs729326821,2
    --65819281(+) TCTCCC/GGGCTT 1 -- us2k10--------
    rs1419561391,2
    --65819310(+) TTCATC/TCGGGC 1 -- us2k10--------
    rs358788591,2
    C--65819380(+) AGCCTC/TCCGCT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs112996591,2
    C--65819432(+) GGGAC-/TCCCTG 1 -- us2k10--------
    rs1463150151,2
    --65819444(+) GAGCGG/TAAGCG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SF3B2 (65818200 - 65836779 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SF3B2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897770CNV Loss21882294
    dgv1186n71CNV Loss21882294

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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: 605591    OMIM disorders: --

    2 diseases for SF3B2:    About MalaCards
    leiomyoma    herpes simplex


    SF3B2 for disorders           About GeneDecksing


    Export disorders for SF3B2 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 SF3B2 gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with SF3B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evidence that sequence-independent binding of highly conserved U2 snRNP proteins upstream of the branch site is required for assembly of spliceosomal complex A. (PubMed id 8566756)1, 2, 3 Gozani O.... Reed R. (1996)
    2. Human immunodeficiency virus type 1 Vpr induces G2 checkpoint activation by interacting with the splicing factor SAP145. (PubMed id 16923959)1, 2, 9 Terada Y. and Yasuda Y. (2006)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. 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)
    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. Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PubMed id 10882114)1, 2 Das R.... Reed R. (2000)
    8. The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site. (PubMed id 7958871)1, 9 Champion-Arnaud P. and Reed R. (1994)
    9. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (2013)
    10. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)

    (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: 10992 HGNC: 10769 AceView: SF3B2 Ensembl:ENSG00000087365 euGenes: HUgn10992
    ECgene: SF3B2 Kegg: 10992 H-InvDB: SF3B2

    (According to HUGE)
    About This Section
      --

    (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 SF3B2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SF3B2 gene:
    Search GeneIP for patents involving SF3B2

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



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