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

SON Gene

protein-coding   GIFtS: 56
GCID: GC21P034914

SON DNA Binding Protein


(Previous symbol: C21orf50)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
SON DNA Binding Protein1 2     SON32 3
C21orf501 2 3     SON DNA-Binding Protein, KIAA101911
NRE-Binding Protein1 2 3     DBP-52
Bax Antagonist Selected In Saccharomyces 11 2 3     Protein SON2
Negative Regulatory Element-Binding Protein1 2 3     DBP53
BASS12 3     KIAA10193
NREBP2 3     Protein DBP-53

External Ids:    HGNC: 111831   Entrez Gene: 66512   Ensembl: ENSG000001591407   OMIM: 1824655   UniProtKB: P185833   

Export aliases for SON gene to outside databases

Previous GC identifers: GC21P031492 GC21P031575 GC21P033835 GC21P033837 GC21P020393


(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 SON Gene:
This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes
pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA
sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a
pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Jul 2013)

GeneCards Summary for SON Gene: 
SON (SON DNA binding protein) is a protein-coding gene. Diseases associated with SON include blue color blindness, and hepatitis b. GO annotations related to this gene include double-stranded RNA binding and RNA binding.

UniProtKB/Swiss-Prot: SON_HUMAN, P18583
Function: RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts
that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that
possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by
facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also
binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B
virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions

Gene Wiki entry for SON 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.2  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SON gene promoter:
         E2F-3a   E2F-5   E2F-1   E2F   Sp1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): SON promoter sequence

   Search SABiosciences Chromatin IP Primers for SON

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


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

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.1-q22.2
Nature(405: 311-319) cytogenetic band:   21q22.11
SON Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SON gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P034914:   GeneLoc Nature:405,311-319
Start:
34,914,924 bp from pter       20,499,844 bp from centromere
End:
34,949,812 bp from pter 20,526,435 bp from centromere
Size:
34,889 bases 26,592 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X63753
genomic clones: pT604 pT377


(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: SON_HUMAN, P18583 (See protein sequence)
Recommended Name: Protein SON  
Size: 2426 amino acids; 263830 Da
Subunit: Interacts with SRSF2. Associates with the spliceosome. Interacts with the AML1-MTG8 (AML1-ETO) fusion
protein, possibly leading to trigger signals inhibiting leukemogenesis
Subcellular location: Nucleus speckle. Note=Colocalizes with the pre-mRNA splicing factor SRSF2
Sequence caution: Sequence=AAH02422.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA82971.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAA44793.1; Type=Frameshift; Positions=2315, 2412, 2417; Sequence=CAC69885.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part;
Secondary accessions: D3DSF5 D3DSF6 E7ETE8 E7EU67 E7EVW3 E9PFQ2 O14487 O95981 Q14120 Q6PKE0
Q9H7B1 Q9P070 Q9P072 Q9UKP9 Q9UPY0
Alternative splicing: 10 isoforms:  P18583-1   P18583-2   P18583-3   P18583-4   P18583-5   P18583-6   P18583-7   P18583-8   
P18583-9   P18583-10   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for SON: NX_P18583

Explore proteomics data for SON at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P18583

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

    SON Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_115571.2  NP_620305.2  

    ENSEMBL proteins: 
     ENSP00000348984   ENSP00000371111   ENSP00000300278   ENSP00000399783   ENSP00000371095  
     ENSP00000400985   ENSP00000405807   ENSP00000401942   ENSP00000404135   ENSP00000290239  

    Human Recombinant Protein Products for SON: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SON
    GenScript Custom Purified and Recombinant Proteins Services for SON
    Novus Biologicals SON Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SON 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0016607nuclear speck IDA--

    SON for ontologies           About GeneDecksing



    SON Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    GenScript Superior Antibodies for SON
    Novus Biologicals SON Antibodies
    Abcam antibodies for SON
    Cloud-Clone Corp. Antibodies for SON 
    Search ThermoFisher Antibodies for SON
    LSBio Antibodies in human, mouse, rat for SON 

    Assay Products for SON: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SON
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SON
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SON 
    Cloud-Clone Corp. CLIAs for SON


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    GPATCH: G patch domain containing

    3 InterPro protein domains:
     IPR001159 Ds-RNA-bd
     IPR014720 dsRNA-bd-like_dom
     IPR000467 G_patch_dom

    Graphical View of Domain Structure for InterPro Entry P18583

    ProtoNet protein and cluster: P18583

    2 Blocks protein domains:
    IPB000467 D111/G-patch domain
    IPB001159 Double-stranded RNA binding (DsRBD) domain


    UniProtKB/Swiss-Prot: SON_HUMAN, P18583
    Domain: Contains 8 types of repeats which are distributed in 3 regions
    Similarity: Contains 1 DRBM (double-stranded RNA-binding) domain
    Similarity: Contains 1 G-patch domain


    SON 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: SON_HUMAN, P18583
    Function: RNA-binding protein that acts as a mRNA splicing cofactor by promoting efficient splicing of transcripts
    that possess weak splice sites. Specifically promotes splicing of many cell-cycle and DNA-repair transcripts that
    possess weak splice sites, such as TUBG1, KATNB1, TUBGCP2, AURKB, PCNT, AKT1, RAD23A, and FANCG. Probably acts by
    facilitating the interaction between Serine/arginine-rich proteins such as SRSF2 and the RNA polymerase II. Also
    binds to DNA; binds to the consensus DNA sequence: 5'-GA[GT]AN[CG][AG]CC-3'. May indirectly repress hepatitis B
    virus (HBV) core promoter activity and transcription of HBV genes and production of HBV virions

         Genatlas biochemistry entry for SON:
    DNA binding protein with some homology to c-mos,ubiquitously expressed,involved in chromatin remodeling

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding TAS1944255
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IDA--
    GO:0003725double-stranded RNA binding ----
    GO:0005515protein binding IPI--
         
    SON for ontologies           About GeneDecksing


    Phenotypes:
         15/16 GenomeRNAi human phenotypes for SON (see all 16):
     Abundance of large cells with   Cell cycle / mitosis defect  Cell division defect  Decreased NANOG protein expres 
     Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased cell number, increas  Decreased homologous recombina 
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  Decreased viability 
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory  Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SON 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SON

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SON 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SON 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SON
    8/52 QIAGEN miScript miRNA Assays for microRNAs that regulate SON (see all 52):
    hsa-miR-548j hsa-miR-193a-3p hsa-miR-15a hsa-miR-200a hsa-miR-624 hsa-miR-30d hsa-miR-141 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidSON 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SON
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SON

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SON


    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SON (see all 10)
    OriGene ORF clones in mouse, rat for SON
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SON (NM_032195)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SON
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SON

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for SON
    Search LifeMap BioReagents cell lines for SON
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SON


    (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



    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/16 Interacting proteins for SON (P185832, 3 ENSP000003489844) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619812, 3, ENSP000003063304MINT-50859 I2D: score=4 STRING: ENSP00000306330
    YWHABP319462, 3, ENSP000003001614MINT-50971 I2D: score=3 STRING: ENSP00000300161
    PRPF40AO754002, 3MINT-61857 I2D: score=3 
    SNIP1Q8TAD82, 3MINT-62155 I2D: score=3 
    TRIP6Q156543, ENSP000002004574I2D: score=1 STRING: ENSP00000200457
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IMP--
    GO:0000910cytokinesis IMP--
    GO:0006397mRNA processing IDA--
    GO:0008380RNA splicing IEA--
    GO:0043066negative regulation of apoptotic process IDA10509013

    SON 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 SON

    Search CenterWatch for drugs/clinical trials and news about SON

    (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 SON gene (4 alternative transcripts): 
    NM_032195.2  NM_138927.2  NM_003103.5  NM_138925.1  

    Unigene Cluster for SON:

    SON DNA binding protein
    Hs.517262  [show with all ESTs]
    Unigene Representative Sequence: NM_138927
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000356577 ENST00000475072 ENST00000381692 ENST00000300278(uc002ysc.3)
    ENST00000455528 ENST00000381679(uc002ysb.1) ENST00000492229 ENST00000436227(uc002ysg.3)
    ENST00000421541 ENST00000429093 ENST00000474355 ENST00000457208 ENST00000467616
    ENST00000484294 ENST00000473102 ENST00000470533 ENST00000478183(uc002ysh.3)
    ENST00000465834
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SON
    8/52 QIAGEN miScript miRNA Assays for microRNAs that regulate SON (see all 52):
    hsa-miR-548j hsa-miR-193a-3p hsa-miR-15a hsa-miR-200a hsa-miR-624 hsa-miR-30d hsa-miR-141 hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidSON 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SON
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SON
    Clone
    Products:
         
    OriGene clones in human, mouse for SON (see all 10)
    OriGene ORF clones in mouse, rat for SON
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SON (NM_032195)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SON
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SON
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SON
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SON
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SON
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SON

    Additional mRNA sequence: 

    AB028942.2 AF139897.1 AF161428.1 AF161430.1 AF380180.1 AF380182.1 AF380184.1 AF435977.1 
    AK024752.1 AK074269.1 AK091233.1 AK127947.1 AK128071.1 AK307612.1 BC002422.2 BC005337.1 
    BC017278.2 BC029455.1 BC046101.1 BC054029.1 BC066303.1 BC104656.1 BC113911.1 DQ102771.1 
    EF212261.1 X63071.1 X63751.1 X63753.1 

    24/40 DOTS entries (see all 40):

    DT.91915247  DT.100059515  DT.95255347  DT.75102580  DT.95255367  DT.91767070  DT.99983617  DT.91767056 
    DT.75134514  DT.86849430  DT.121141317  DT.91696305  DT.419506  DT.100879195  DT.121141046  DT.100016039 
    DT.121140988  DT.100865109  DT.121141465  DT.100879194  DT.91931698  DT.121365317  DT.95369227  DT.100879201 

    24/682 AceView cDNA sequences (see all 682):

    BM477987 AA935913 AI929660 BM694008 AI929819 AA431673 BU579696 AV753636 
    AF380184 AI650942 N94743 NM_138925 BX119027 NM_032195 BQ230735 AA915889 
    AA664141 BG620557 BM451848 BQ216503 BU952195 AA362029 AA844750 AI748847 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for SON (see all 15)    About this scheme

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

    ExUns: 18b · 18c ^ 19 ^ 20 ^ 21a · 21b · 21c · 21d · 21e · 21f · 21g
    SP1:  -                       -                                       
    SP2:  -                                                               
    SP3:  -                                                               
    SP4:  -                       -                                       
    SP5:  -                                                               


    ECgene alternative splicing isoforms for SON

    (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

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


    SON expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/49 selected tissues (see all 49) fully expand
     
     Brain (Nervous System)    fully expand to see all 19 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Floor Plate Cells Spinal Floor Plate
             Telencephalon
             brain/midbrain/lateral wall   
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             stem cells (umbilical cord cd34+)   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Lung (Respiratory System)    fully expand to see all 5 entries
             Stem Bronchi
             lung ; pneumocytes   

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

    SOURCE GeneReport for Unigene cluster: Hs.517262

    UniProtKB/Swiss-Prot: SON_HUMAN, P18583
    Tissue specificity: Widely expressed, with the higher expression seen in leukocyte and heart

        SABiosciences Expression via Pathway-Focused PCR Array including SON: 
              Apoptosis 384HT in human mouse rat

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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 animals.

    Orthologs for SON gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Son1 , 5 Son DNA binding protein1, 5 88.29(n)1
    87.44(a)1
      16 (53.22 cM)5
    206581  NM_178880.41  NP_849211.31 
     916475065 
    chicken
    (Gallus gallus)
    Aves SON1 SON DNA binding protein 45.61(n)
    36.2(a)
      770637  XM_003640519.1  XP_003640567.1 
    lizard
    (Anolis carolinensis)
    Reptilia SON6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    3(142960692-143004345)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.212682 Xenopus laevis transcribed sequence with weak similarity more 76.01(n)    BJ618719.1 
    zebrafish
    (Danio rerio)
    Actinopterygii SON6
    SON DNA binding protein
    46(a)
    1 ↔ 1
    1(683992-706241)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG82733 double-stranded RNA binding 38(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea D1037.13   -- 44(a)   I(3684779-3685944)   --


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

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

    SON for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SON
    PGOHUM00000245020


    (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

    10/834 SNPs in SON are shown (see all 834)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1149503191,2
    F--34917446(+) CTTCAC/ACTCTT 2 -- int11Minor allele frequency- A:0.03WA 118
    rs1835900311,2
    --34917483(+) TTCTTA/CATTTA 2 -- int10--------
    rs1873982001,2
    --34917623(+) GCCAGA/CTGTTC 2 -- int10--------
    rs1384043251,2
    --34917695(+) AGGTAA/GTGGAG 2 -- int10--------
    rs1429119691,2
    C--34917709(+) AATTGA/G/TTGTGT 2 -- int10--------
    rs1174478711,2
    F--34917749(+) CAAACT/AGTTGC 2 -- int11Minor allele frequency- A:0.01EA 120
    rs1459712631,2
    C--34917825(+) TGATAC/TGTTCT 2 -- int10--------
    rs1385710901,2
    --34918115(+) GCACAC/GCTGTG 2 -- int10--------
    rs1411598431,2
    C--34918142(+) GGTTTC/TTACCA 2 -- int10--------
    rs1907031631,2
    --34918341(+) AAATGA/GAATGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for SON (34914924 - 34949812 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SON:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723356CNV Deletion23290073
    esv2723354CNV Deletion23290073
    esv2723355CNV Deletion23290073
    nsv913725CNV Loss21882294
    nsv913724CNV 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: 182465    OMIM disorders: --

    7 diseases for SON:    About MalaCards
    blue color blindness    hepatitis b    blepharospasm    color blindness
    blindness    hepatitis    influenza


    SON for disorders           About GeneDecksing


    Export disorders for SON 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 SON gene, integrated from 9 sources (see all 62):
    (articles sorted by number of sources associating them with SON)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON. (PubMed id 11306577)1, 2, 9 Sun C.-T....Ting L.-P. (2001)
    2. The origins, evolution and functional potential of al ternative splicing in vertebrates. (PubMed id 21551269)1, 3 Mudge J.M....Harrow J. (2011)
    3. SON controls cell-cycle progression by coordinated regulation of RNA splicing. (PubMed id 21504830)1, 2 Ahn E.Y.... Zhang D.E. (2011)
    4. SON is a spliceosome-associated factor required for mitotic progression. (PubMed id 20581448)1, 2 Huen M.S.... Chen J. (2010)
    5. Disruption of the NHR4 domain structure in AML1-ETO abrogates SON binding and promotes leukemogenesis. (PubMed id 18952841)1, 2 Ahn E.Y....Zhang D.E. (2008)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    9. mRNA 5' region sequence incompleteness: a potential source of systematic errors in translation initiation codon assignment in human mRNAs. (PubMed id 14637006)1, 2 Casadei R....Zannotti M. (2003)
    10. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PubMed id 11707072)1, 2 Reymond A....Antonarakis S.E. (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: 6651 HGNC: 11183 AceView: SON Ensembl:ENSG00000159140 euGenes: HUgn6651
    ECgene: SON H-InvDB: SON

    (According to HUGE)
    About This Section
    HUGE: KIAA1019

    (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 SON Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SON 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 SON gene:
    Search GeneIP for patents involving SON

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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