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

SRSF2 Gene

protein-coding   GIFtS: 60
GCID: GC17M074731

Serine/Arginine-Rich Splicing Factor 2

(Previous names: splicing factor, arginine/serine-rich 2)
(Previous symbol: SFRS2)
Microbiology & Infectious Diseases Congress
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Serine/Arginine-Rich Splicing Factor 21 2     SC-352 3
SFRS21 2 3 5     PR2642
Splicing Factor, Arginine/Serine-Rich 21 2 3     SC352
SR Splicing Factor 21 2     SFRS2A2
Splicing Component, 35 KDa2 3     SRp30b2
Splicing Factor SC352 3     Protein PR2643

External Ids:    HGNC: 107831   Entrez Gene: 64272   Ensembl: ENSG000001615477   OMIM: 6008135   UniProtKB: Q011303   
ORGUL members:         
NONCODE14:n410148      

Export aliases for SRSF2 gene to outside databases

Previous GC identifer: GC17M070157


(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 SRSF2 Gene:
The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors,
which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for
binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues
and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA
splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation.
Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this
gene. In addition, a pseudogene of this gene has been found on chromosome 11. (provided by RefSeq, Sep 2010)

GeneCards Summary for SRSF2 Gene: 
SRSF2 (serine/arginine-rich splicing factor 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with SRSF2 include papillary renal carcinoma, and amyotrophic neuralgia, and among its related super-pathways are mRNA Processing and Post-Elongation Processing of Intron-Containing pre-mRNA. GO annotations related to this gene include RNA binding and transcription corepressor activity. An important paralog of this gene is LOC100996657.

UniProtKB/Swiss-Prot: SRSF2_HUMAN, Q01130
Function: Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent
splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during
spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA.
Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice
site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G)
or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form
(by SRPK2) is required for cellular apoptosis in response to cisplatin treatment

Gene Wiki entry for SRSF2 (SFRS2) 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_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SRSF2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSRSF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SRSF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRSF2


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.2

SRSF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SRSF2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M074731:  view genomic region     (about GC identifiers)

Start:
74,730,197 bp from pter      End:
74,733,493 bp from pter
Size:
3,297 bases      Orientation:
minus 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: SRSF2_HUMAN, Q01130 (See protein sequence)
Recommended Name: Serine/arginine-rich splicing factor 2  
Size: 221 amino acids; 25476 Da
Subunit: Interacts with BRDT (By similarity). In vitro, self-associates and binds SRSF1/SFRS1 (ASF/SF2), SNRNP70
and U2AF1 but not U2AF2. Binds SREK1/SFRS12. Interacts with CCNL1 and CCNL2. Interacts with SCAF11. Interacts
with ZRSR2/U2AF1-RS2. Interacts with CCDC55 (via C-terminus)
Subcellular location: Nucleus. Nucleus, nucleoplasm. Nucleus speckle. Note=Phosphorylation by SRPK2 provokes its
redistribution from the nuclear specke to nucleoplasm
4 PDB 3D structures from and Proteopedia for SRSF2:
2KN4 (3D)        2LEA (3D)        2LEB (3D)        2LEC (3D)    
Secondary accessions: B3KWD5

Explore the universe of human proteins at neXtProt for SRSF2: NX_Q01130

Explore proteomics data for SRSF2 at MOPED 

Post-translational modifications:

  • UniProtKB: Extensively phosphorylated on serine residues in the RS domain. Phosphorylated by SRPK2 and this causes its
    redistribution from the nuclear speckle to nucleoplasm and controls cell fate decision in response to cisplatin
    treatment. KAT5/TIP60 inhibits its phosphorylation by preventing SRPK2 nuclear translocation
  • UniProtKB: Acetylation on Lys-52 by KAT5/TIP60 promotes its proteasomal degradation. This effect is counterbalanced by HDAC6,
    which positively controls SRSF2 protein level by deacetylating it and preventing its proteasomal degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01130

  • SRSF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SRSF2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001182356.1  NP_003007.2  

    ENSEMBL proteins: 
     ENSP00000376276   ENSP00000353089   ENSP00000462425   ENSP00000391278   ENSP00000441780  
     ENSP00000463317   ENSP00000350877  
    Reactome Protein details: Q01130
    Human Recombinant Protein Products for SRSF2: 
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    Cloud-Clone Corp. Proteins for SRSF2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA15652350
    GO:0005654nucleoplasm TAS--
    GO:0005681spliceosomal complex ----
    GO:0016605NOT PML body IDA15652350
    GO:0016607nuclear speck IDA12799190

    SRSF2 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
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing
    SRSF: Serine/arginine-rich splicing factors

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

    Graphical View of Domain Structure for InterPro Entry Q01130

    ProtoNet protein and cluster: Q01130

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

    UniProtKB/Swiss-Prot: SRSF2_HUMAN, Q01130
    Similarity: Belongs to the splicing factor SR family
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    SRSF2 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: SRSF2_HUMAN, Q01130
    Function: Necessary for the splicing of pre-mRNA. It is required for formation of the earliest ATP-dependent
    splicing complex and interacts with spliceosomal components bound to both the 5'- and 3'-splice sites during
    spliceosome assembly. It also is required for ATP-dependent interactions of both U1 and U2 snRNPs with pre-mRNA.
    Interacts with other spliceosomal components, via the RS domains, to form a bridge between the 5'- and 3'-splice
    site binding components, U1 snRNP and U2AF. Binds to purine-rich RNA sequences, either 5'-AGSAGAGTA-3' (S=C or G)
    or 5'-GTTCGAGTA-3'. Can bind to beta-globin mRNA and commit it to the splicing pathway. The phosphorylated form
    (by SRPK2) is required for cellular apoptosis in response to cisplatin treatment
    Induction: Accumulates in a hypoacetylated/phosphorylated form in response to cisplatin treatment

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003714transcription corepressor activity NAS15652350
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI15652350
         
    SRSF2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SRSF2:
     Decreased melanin production  Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Srsf2):
     cardiovascular system  cellular  hematopoietic system  immune system  mortality/aging 
     muscle 

    SRSF2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Srsf2tm1.1Xdfu for SRSF2

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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 SRSF2 About   (see all 6)                                                                                              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
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.79
    Post-Elongation Processing of the Transcript0.79
    Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    mRNA 3'-end processing0.79
    Cleavage of Growing Transcript in the Termination Region 0.79
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.85
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.85
    4Transcription
    Transcription0.69
    RNA Polymerase II Transcription0.69
    5Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SRSF2
        mRNA processing

    5/15        Reactome Pathways for SRSF2 (see all 15)
        Transport of Mature mRNA derived from an Intron-Containing Transcript
    mRNA Splicing - Major Pathway
    Transport of Mature Transcript to Cytoplasm
    mRNA Splicing
    RNA Polymerase II Transcription


    2         Kegg Pathways  (Kegg details for SRSF2):
        Spliceosome
    Herpes simplex infection


    SRSF2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SRSF2

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

    5/688 Interacting proteins for SRSF2 (Q011301, 2, 3 ENSP000003508774) via UniProtKB, MINT, STRING, and/or I2D (see all 688)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPMP522722, 3, ENSP000003253764MINT-7945693 MINT-7979432 I2D: score=1 STRING: ENSP00000325376
    CIR1Q86X951, 3, ENSP000003397234EBI-627047,EBI-627102 I2D: score=3 STRING: ENSP00000339723
    SNRNP70P086212, 3, ENSP000002214484MINT-7945693 I2D: score=2 STRING: ENSP00000221448
    CDC5LQ994592, 3, ENSP000003605324MINT-7945693 I2D: score=1 STRING: ENSP00000360532
    HABP4Q5JVS02, 3, ENSP000003643984MINT-7041189 I2D: score=1 STRING: ENSP00000364398
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006397mRNA processing TAS8530103
    GO:0006406mRNA export from nucleus TAS--

    SRSF2 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

    SRSF2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SRSF2

    10 Novoseek inferred chemical compound relationships for SRSF2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    camptothecin 39 2 14597418 (1), 17709397 (1)
    arginine 38 5 1454802 (1), 10022858 (1), 9685421 (1), 9108022 (1) (see all 5)
    serine 37.9 5 11815617 (1), 10022858 (1), 9685421 (1), 12525645 (1) (see all 5)
    uridine 19.4 1 8541878 (1)
    zinc 11.6 1 9761791 (1)
    adenylate 2.25 1 9056409 (1)
    nacl 0 1 9044054 (1)
    atp 0 2 16895966 (1), 1531875 (1)
    steroid 0 2 11730918 (1), 11101696 (1)
    tyrosine 0 1 11239462 (1)

    Search CenterWatch for drugs/clinical trials and news about SRSF2

    (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,
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    About This Section

    REFSEQ mRNAs for SRSF2 gene (2 alternative transcripts): 
    NM_001195427.1  NM_003016.4  

    Unigene Cluster for SRSF2:

    Serine/arginine-rich splicing factor 2
    Hs.584801  [show with all ESTs]
    Unigene Representative Sequence: NM_003016
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392485(uc010wtg.2 uc002jsv.3) ENST00000359995(uc002jsy.4)
    ENST00000585202 ENST00000582449(uc002jsw.2) ENST00000586778 ENST00000452355
    ENST00000589919 ENST00000508921 ENST00000592676 ENST00000583836 ENST00000358156

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK092489.1 AK093626.1 AK097069.1 AK098209.1 AK123712.1 AK124792.1 AK126432.1 AK223252.1 
    AK297813.1 BC000339.2 BC001303.2 BC063570.1 BC066958.1 BC070086.1 BT007250.1 M90104.1 
    NR_036608.1 X62447.1 

    24/55 DOTS entries (see all 55):

    DT.100674705  DT.100674715  DT.100039139  DT.87077676  DT.100775016  DT.100683898  DT.120925058  DT.120924939 
    DT.95126016  DT.92463589  DT.100674710  DT.100868084  DT.100674699  DT.100718826  DT.100674703  DT.100674709 
    DT.100674714  DT.120924957  DT.95126032  DT.100775015  DT.120924988  DT.100674720  DT.120924966  DT.120925069 

    24/1026 AceView cDNA sequences (see all 1026):

    AI572584 BE887475 AI634708 H02206 CB116458 BU627331 AW450058 CR597972 
    BG435410 BM504789 BG912927 AI363041 CR593478 AW467361 CD722556 BE349954 
    CR603955 BQ182093 BQ575140 CR620472 BQ014548 AI147884 N79727 AI186603 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SRSF2    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4
    SP1:                                                
    SP2:                                -     -         
    SP3:              -     -                           


    ECgene alternative splicing isoforms for SRSF2

    (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

    SRSF2 expression in normal human tissues (normalized intensities)      SRSF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTATCTTT
    SRSF2 Expression
    About this image


    SRSF2 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   
     
     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
     
     Uterus
             uterus, post-menopause ; glandular cells   

    See SRSF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SRSF2

    SOURCE GeneReport for Unigene cluster: Hs.584801
        SABiosciences Custom PCR Arrays for SRSF2
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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 SRSF2 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Srsf21 , 5 serine/arginine-rich splicing factor 21, 5 87.78(n)1
    100(a)1
      11 (81.49 cM)5
    203821  NM_011358.21  NP_035488.11 
     1168499015 
    chicken
    (Gallus gallus)
    Aves SRSF21 serine/arginine-rich splicing factor 2 83.41(n)
    98.19(a)
      396195  NM_001001305.2  NP_001001305.1 
    lizard
    (Anolis carolinensis)
    Reptilia SRSF26
    Uncharacterized protein
    99(a)
    1 ↔ 1
    2(111632773-111634794)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045229.12   -- 78.94(n)    BC045229.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.84812 Danio rerio mRNA similar to splicing factor, arginine/serine-rich more 80.78(n)    BC046045.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SC356
    SC35
    61(a)
    1 → many
    2L(12431075-12434665)
    worm
    (Caenorhabditis elegans)
    Secernentea rsp-46
    Probable splicing factor, arginine/serine-rich 4
    54(a)
    1 → many
    II(5387419-5388830)
    rice
    (Oryza sativa)
    Liliopsida Os08g04862001 hypothetical protein 47.07(n)
    55.28(a)
      4345884  NM_001068629.1  NP_001062094.1 


    ENSEMBL Gene Tree for SRSF2 (if available)
    TreeFam Gene Tree for SRSF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SRSF2 gene
    LOC1009966572  ENSG000002718852  SRSF122  SRSF102  
    18 SIMAP similar genes for SRSF2 using alignment to 3 protein entries:     SRSF2_HUMAN (see all proteins):
    SFRS2    SRSF8    LOC346472    RBMX    CIRBP    RBMY1A1
    RBM3    FUSIP1    PABPN1    CELF1    SRSF12    SRSF6
    LOC392896    RNPS1    SRSF10    RBM38    DKFZp686F18120    SRSF7

    SRSF2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SRSF2
    PGOHUM00000263339


    (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

    10/136 SNPs in SRSF2 are shown (see all 136)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs112737481,2
    C--70163074(+) ATGTA-/AAGCACTTGG
    C
    /AGCACTTGGCA
    ACAGT
    3 -- us2k1 tfbs30--------
    rs1438841581,2
    C--75816449(+) CTGGTA/CATTTC 3 -- int10--------
    rs151841,2
    H--75816456(-) TGCAAA/TGGAAA 3 -- int15Minor allele frequency- T:0.00MN NS EA 586
    rs1473214921,2
    C,F--75816472(+) CAGTCT/CCTGAA 3 -- int11Minor allele frequency- C:0.00EU 593
    rs1832838711,2
    C--75816483(+) TTATAC/TCTACA 3 -- int11Minor allele frequency- T:0.00EU 593
    rs1400157191,2
    C--75816500(+) TCTGGA/GACAGT 3 -- int10--------
    rs2013886681,2
    C--75816508(+) AGTATC/TAATAC 3 -- int11Minor allele frequency- T:0.00EU 589
    rs1494363821,2
    --75816547(+) AGCAGA/CCCACT 3 -- int10--------
    rs1447672091,2
    C--75816577(+) GGTCTG/TAAGAT 3 -- int10--------
    rs1878122061,2
    --75816636(+) AACTCA/CTATGA 3 -- int10--------

    HapMap Linkage Disequilibrium report for SRSF2 (74730197 - 74733493 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SRSF2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833550CNV Loss17160897
    nsv908833CNV Loss21882294
    nsv828110CNV Gain20364138

    3 SABiosciences Cancer Mutation PCR Assays for SRSF2:
    Cosmic IdAA Change
    98000029P95L
    98000030P95R
    98000028P95H
    1 SABiosciences Cancer Mutation PCR Array containing SRSF2:
    Myelodysplastic Syndromes
    SeqTarget long-range PCR primers for resequencing SRSF2
    DNA2.0 Custom Variant and Variant Library Synthesis for SRSF2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600813    OMIM disorders: --

    20/24 diseases for SRSF2 (see all 24):    About MalaCards
    papillary renal carcinoma    amyotrophic neuralgia    holt-oram syndrome    growth hormone deficiency
    lactic acidosis    myelofibrosis    thymoma    neurofibromatosis
    retinitis pigmentosa    dilated cardiomyopathy    bipolar disorder    mental retardation
    myelodysplastic syndromes    retinitis    influenza    acute myeloid leukemia
    myeloid leukemia    hypoxia    cervicitis    hepatocellular carcinoma


    SRSF2 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for SRSF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    immunodeficiency 24.5 3 18550660 (1), 10022872 (1), 11090190 (1)
    acidosis lactic 18.5 1 15798212 (1)
    mental retardation 16.4 1 15798212 (1)
    shock 0 2 16135820 (1), 12924631 (1)


    Export disorders for SRSF2 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 SRSF2 gene, integrated from 9 sources (see all 227):
    (articles sorted by number of sources associating them with SRSF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal localization of mouse and human genes encoding the splicing factors ASF/SF2 (SFRS1) and SC-35 (SFRS2). (PubMed id 8530103)1, 3, 9 Bermingham J.R....Rosenfeld M.G. (1995)
    2. Specific interactions between proteins implicated in splice site selection and regulated alternative splicing. (PubMed id 8261509)1, 2, 9 Wu J.Y. and Maniatis T. (1993)
    3. Cyclin L2, a novel RNA polymerase II-associated cyclin, is involved in pre-mRNA splicing and induces apoptosis of human hepatocellular carcinoma cells. (PubMed id 14684736)1, 2, 9 Yang L.... Cao X. (2004)
    4. Isolation of a complementary DNA that encodes the mammalian splicing factor SC35. (PubMed id 1373910)1, 2, 9 Fu X.-D. and Maniatis T. (1992)
    5. Acetylation and phosphorylation of SRSF2 control cell fate decision in response to cisplatin. (PubMed id 21157427)1, 2 Edmond V....Eymin B. (2011)
    6. A rational nomenclature for serine/arginine-rich prot ein splicing factors (SR proteins). (PubMed id 20516191)1, 3 Manley J.L. and Krainer A.R. (2010)
    7. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (2006)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 6427 HGNC: 10783 AceView: SFRS2 Ensembl:ENSG00000161547 euGenes: HUgn6427
    ECgene: SRSF2 Kegg: 6427 H-InvDB: SRSF2

    (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 SRSF2 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 SRSF2 gene:
    Search GeneIP for patents involving SRSF2

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



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    About This Section

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