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SF3B4 Gene

protein-coding   GIFtS: 62
GCID: GC01M149895

Splicing Factor 3b, Subunit 4, 49kDa

(Previous names: splicing factor 3b, subunit 4, 49kD)
  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)
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Aliases
Splicing Factor 3b, Subunit 4, 49kDa1 2     Splicing Factor 3b, Subunit 4, 49kD1
SAP492 3 5     Hsh492
Pre-MRNA-Splicing Factor SF3b 49 KDa Subunit2 3     SF3b492
Spliceosome-Associated Protein 492 3     Spliceosomal Protein2
SF3b502 3     Spliceosome-Associated Protein (U2 SnRNP)2
SAP 492 3     Splicing Factor 3B Subunit 42
AFD12 5     SF3B495

External Ids:    HGNC: 107711   Entrez Gene: 102622   Ensembl: ENSG000001433687   OMIM: 6055935   UniProtKB: Q154273   

Export aliases for SF3B4 gene to outside databases

Previous GC identifers: GC01M147536 GC01M145637 GC01M146670 GC01M147111 GC01M146708 GC01M148161 GC01M121275


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SF3B4 Gene:
This gene encodes one of four subunits of the splicing factor 3B. The protein encoded by this gene cross-links to
a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal
complex A. It also may be involved in the assembly of the B, C and E spliceosomal complexes. In addition to
RNA-binding activity, this protein interacts directly and highly specifically with subunit 2 of the splicing
factor 3B. This protein contains two N-terminal RNA-recognition motifs (RRMs), consistent with the observation
that it binds directly to pre-mRNA. (provided by RefSeq, Jul 2008)

GeneCards Summary for SF3B4 Gene:
SF3B4 (splicing factor 3b, subunit 4, 49kDa) is a protein-coding gene. Diseases associated with SF3B4 include nager acrofacial dysostosis, and triphalangeal thumb. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is PABPC1L2B.

UniProtKB/Swiss-Prot: SF3B4_HUMAN, Q15427
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. SF3B4 has been found in complex 'B' and 'C' as well. 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 SF3B4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SF3B4 gene promoter:
         AP-1   SREBP-1c   IRF-1   LCR-F1   C/EBPalpha   SREBP-1b   MEF-2A   SREBP-1a   aMEF-2   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSF3B4 promoter sequence
   Search Chromatin IP Primers for SF3B4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SF3B4


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

Entrez Gene cytogenetic band: 1q21.2   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.2

SF3B4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SF3B4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M149895:  view genomic region     (about GC identifiers)

Start:
149,895,209 bp from pter      End:
149,900,236 bp from pter
Size:
5,028 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SF3B4_HUMAN, Q15427 (See protein sequence)
Recommended Name: Splicing factor 3B subunit 4  
Size: 424 amino acids; 44386 Da
Subunit: 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). Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. SF3B4 interacts
directly with SF3B2
2 PDB 3D structures from and Proteopedia for SF3B4:
1X5T (3D)        1X5U (3D)    
Secondary accessions: Q5SZ63

Explore the universe of human proteins at neXtProt for SF3B4: NX_Q15427

Explore proteomics data for SF3B4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SF3B4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005841.1  
    ENSEMBL proteins: 
     ENSP00000271628   ENSP00000391114  
    Reactome Protein details: Q15427

    SF3B4 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q15427

    ProtoNet protein and cluster: Q15427

    1 Blocks protein domain: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: SF3B4_HUMAN, Q15427
    Similarity: Belongs to the SF3B4 family
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    SF3B4 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SF3B4_HUMAN, Q15427
    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. SF3B4 has been found in complex 'B' and 'C' as well. 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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI16189514
    GO:0044822poly(A) RNA binding IDA--
         
    SF3B4 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for SF3B4:
     Decreased mitotic index  Decreased viability of wild-ty  Increased G2M DNA content  Increased gamma-H2AX phosphory 
     Increased number of mitotic ce 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SF3B4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SF3B4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SF3B4

    miRNA
    Products:
        
    miRTarBase miRNAs that target SF3B4:
    hsa-let-7c-5p (MIRT051835), hsa-mir-10a-5p (MIRT047686), hsa-mir-296-3p (MIRT038362), hsa-mir-423-3p (MIRT042581)

    Block miRNA regulation of human, mouse, rat SF3B4 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate SF3B4:
    hsa-miR-133a hsa-miR-133b hsa-miR-509-3p
    SwitchGear 3'UTR luciferase reporter plasmidSF3B4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SF3B4

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    Sino Biological Human cDNA Clone for SF3B4
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF3B4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SF3B4_HUMAN, Q15427: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    golgi apparatus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex IDA9731529
    GO:0005689U12-type spliceosomal complex IDA15146077

    SF3B4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SF3B4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA processing0.44
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA Splicing - Minor Pathway0.38
    mRNA Splicing0.78
    2Gene Expression
    Gene Expression0.40
    3Spliceosome
    Spliceosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SF3B4
        mRNA processing


    2 Reactome Pathways for SF3B4
        mRNA Splicing - Major Pathway
    mRNA Splicing - Minor Pathway


    1 Kegg Pathway  (Kegg details for SF3B4):
        Spliceosome


    SF3B4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SF3B4
    Interactions:

        GeneGlobe Interaction Network for SF3B4

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

    Selected Interacting proteins for SF3B4 (Q154271, 2, 3 ENSP000002716284) via UniProtKB, MINT, STRING, and/or I2D (see all 716)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK19P498422, 3, ENSP000003644824MINT-62583 MINT-62681 MINT-62757 I2D: score=4 STRING: ENSP00000364482
    ENSG00000236250P498422, 3, ENSP000003917984MINT-62583 MINT-62681 MINT-62757 I2D: score=4 STRING: ENSP00000391798
    SF3B2Q134351, 2, 3, ENSP000003188614EBI-348469,EBI-749111 MINT-7945693 MINT-8332328 MINT-8333515 I2D: score=5 STRING: ENSP00000318861
    ENSG00000206342P498422, 3MINT-62583 MINT-62681 MINT-62757 I2D: score=4 
    ENSG00000226033P498422, 3MINT-62583 MINT-62681 MINT-62757 I2D: score=4 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000375RNA splicing, via transesterification reactions TAS7958871
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006397mRNA processing TAS7958871
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    SF3B4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SF3B4



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SF3B4 gene: 
    NM_005850.4  

    Unigene Cluster for SF3B4:

    Splicing factor 3b, subunit 4, 49kDa
    Hs.516160  [show with all ESTs]
    Unigene Representative Sequence: BC090883
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271628(uc009wll.1 uc001etk.2) ENST00000457312
    miRNA
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    Block miRNA regulation of human, mouse, rat SF3B4 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate SF3B4:
    hsa-miR-133a hsa-miR-133b hsa-miR-509-3p
    SwitchGear 3'UTR luciferase reporter plasmidSF3B4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SF3B4
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      QuantiTect SYBR Green Assays in human, mouse, rat SF3B4
      QuantiFast Probe-based Assays in human, mouse, rat SF3B4

    Additional mRNA sequence: 

    AK097315.1 AK223322.1 AK310495.1 BC004273.1 BC013886.2 BC090883.1 

    19 DOTS entries:

    DT.416381  DT.100674146  DT.100768025  DT.100674150  DT.121325704  DT.95170197  DT.100039443  DT.100674149 
    DT.100690113  DT.100772506  DT.100674151  DT.100674157  DT.100841135  DT.100846847  DT.121325760  DT.40233860 
    DT.95170195  DT.95170200  DT.120773233 

    Selected AceView cDNA sequences (see all 539):

    BM857007 BE906534 BG113374 AA380420 BQ218795 BC004273 NM_005850 BE277459 
    BC064372 BQ216712 CB217078 BE384263 BM817432 AA463934 BM713940 BI770887 
    CB130736 BQ063166 BX328762 BU540739 BM763511 CR619749 BM460550 BU859288 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for SF3B4    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b
    SP1:                    -                                             
    SP2:                    -                                             
    SP3:                                                                  
    SP4:                                                                  


    ECgene alternative splicing isoforms for SF3B4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SF3B4 expression in normal human tissues (normalized intensities)      SF3B4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATACACTGG
    SF3B4 Expression
    About this image


    SF3B4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Smooth Muscle (Muscoskeletal System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Kidney (Urinary System)
             Juxtaglomerular Cells Afferent Arteriole
     
     Fibroblasts (Uncategorized)
    SF3B4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SF3B4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516160
        Custom PCR Arrays for SF3B4
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SF3B4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SF3B4
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    QuantiFast Probe-based Assays in human, mouse, rat SF3B4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SF3B4

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SF3B4 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sf3b41 , 5 splicing factor 3b, subunit 41, 5 90.17(n)1
    99.53(a)1
      3 (41.65 cM)5
    1077011  NM_153053.31  NP_694693.11 
     961723325 
    chicken
    (Gallus gallus)
    Aves SF3B41 splicing factor 3b, subunit 4, 49kDa 78.22(n)
    90.74(a)
      426042  XM_423721.4  XP_423721.2 
    lizard
    (Anolis carolinensis)
    Reptilia SF3B46
    splicing factor 3b, subunit 4, 49kDa
    88(a)
    1 ↔ 1
    GL344255.1(8955-25378)
    African clawed frog
    (Xenopus laevis)
    Amphibia spx-prov2 splicing factor 3b, subunit 4, 49kD 76.5(n)    BC045264.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sf3b42 splicing factor 3b, subunit 4 77.32(n)   192318  BC056532.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spx3 mRNA splicing RNA binding 81(a)   1 5E3   --
    worm
    (Caenorhabditis elegans)
    Secernentea sap-493 Poly(A) RNA binding protein 73(a)   II(8034428-8035787)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HSH49(YOR319W)4 U2-snRNP associated splicing factor with similarity more   --   15(912822-913463) 854497  NP_014964.1 
    rice
    (Oryza sativa)
    Liliopsida Os.58662 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.33(n)    AK060554.1 


    ENSEMBL Gene Tree for SF3B4 (if available)
    TreeFam Gene Tree for SF3B4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SF3B4 gene
    PABPC1L2B2  PABPC1L2A2  PUF602  
    11 SIMAP similar genes for SF3B4 using alignment to 2 protein entries:     SF3B4_HUMAN (see all proteins):
    PABPC4L    ELAVL1    TIA1    PABPC4    ELAVL2    PABPC1L2A
    PABPC1L2B    PABPC3    PABPC1L    HNRNPA1    PABPC1

    SF3B4 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SF3B4
    PGOHUM00000257967


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SF3B4 (see all 196)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1907671681,2
    --156396492(+) AGACCA/GTGTCT 1 -- ds50010--------
    rs777627991,2
    F--156396750(+) GTTACT/CGTTGT 1 -- ds50011Minor allele frequency- C:0.12WA 118
    rs1808834431,2
    C--156396982(+) CAGGAA/GGAAGG 1 -- ut310--------
    rs1492922751,2
    C--156397291(+) GAGCCA/GACTTA 1 -- int10--------
    rs1119438441,2
    C--156397295(+) CGACTG/TACCCA 1 -- int10--------
    rs2001225061,2
    C--156397400(+) CCCAGA/GGCCTG 2 P S mis10--------
    rs583839871,2
    C--156397407(+) CCTGGG/TGGTCC 2 P syn10--------
    rs1859037171,2
    --156397538(+) AGAAAG/TGAAGA 1 -- int10--------
    rs1484269201,2
    --156397727(+) GCTCTA/TTCAAA 1 -- int10--------
    rs1913739951,2
    --156397940(+) CCCTAC/TCCTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SF3B4 (149895209 - 149900236 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SF3B4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831537CNV Loss17160897
    nsv428235CNV Gain18775914
    essv23032CNV CNV17122850
    dgv117e1CNV Complex17122850
    dgv125e1CNV Complex17122850
    dgv123e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): SF3B4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SF3B4
    DNA2.0 Custom Variant and Variant Library Synthesis for SF3B4

    (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.)
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    OMIM gene information: 605593   
    OMIM disorders: 154400  
    UniProtKB/Swiss-Prot: SF3B4_HUMAN, Q15427
  • Acrofacial dysostosis 1, Nager type (AFD1) [MIM:154400]: A form of acrofacial dysostosis, a group of
    disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial
    features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which
    often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior
    (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial
    hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb
    defects have also been reported. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 12 diseases for SF3B4:    About MalaCards
    nager acrofacial dysostosis    triphalangeal thumb    radioulnar synostosis    synostosis
    dysostosis    fanconi's anemia    pancreatic cancer    pancreatitis
    hiv-1    multiple myeloma    myeloma    malaria


    SF3B4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SF3B4

    Export disorders for SF3B4 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)
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    PubMed articles for SF3B4 gene, integrated from 10 sources (see all 59):
    (articles sorted by number of sources associating them with SF3B4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 2, 3, 9 Champion-Arnaud P. and Reed R. (Genes Dev. 1994)
    2. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. (PubMed id 22541558)1, 2 Bernier F.P.... Parboosingh J.S. (Am. J. Hum. Genet. 2012)
    3. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    5. 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. (RNA 2004)
    6. 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. (Genome Res. 2004)
    7. Molecular architecture of the multiprotein splicing factor SF3b. (PubMed id 12738865)1, 2 Golas M.M.... Stark H. (Science 2003)
    8. 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.... Luehrmann R. (EMBO J. 2002)
    9. Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. (PubMed id 10882114)1, 2 Das R.... Reed R. (Mol. Cell 2000)
    10. Splicing factor 3b subunit 4 binds BMPR-IA and inhibits osteochondral cell differentiation. (PubMed id 17513295)1, 9 Watanabe H....Watanabe H. (J. Biol. Chem. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 10262 HGNC: 10771 AceView: SF3B4andCRA Ensembl:ENSG00000143368 euGenes: HUgn10262
    ECgene: SF3B4 Kegg: 10262 H-InvDB: SF3B4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SF3B4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SF3B4 gene:
    Search GeneIP for patents involving SF3B4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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