Human Gene SRSF2 (ENST00000359995.10_8) from GENCODE V47lift37
  Description: serine and arginine rich splicing factor 2, transcript variant 2 (from RefSeq NM_001195427.2)
Gencode Transcript: ENST00000359995.10_8
Gencode Gene: ENSG00000161547.17_12
Transcript (Including UTRs)
   Position: hg19 chr17:74,730,197-74,733,413 Size: 3,217 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr17:74,732,243-74,733,242 Size: 1,000 Coding Exon Count: 2 

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Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:74,730,197-74,733,413)mRNA (may differ from genome)Protein (221 aa)
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WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRSF2_HUMAN
DESCRIPTION: RecName: Full=Serine/arginine-rich splicing factor 2; AltName: Full=Protein PR264; AltName: Full=Splicing component, 35 kDa; AltName: Full=Splicing factor SC35; Short=SC-35; AltName: Full=Splicing factor, arginine/serine-rich 2;
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.
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).
INTERACTION: Q86X95:CIR1; NbExp=4; IntAct=EBI-627047, EBI-627102;
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleoplasm. Nucleus speckle. Note=Phosphorylation by SRPK2 provokes its redistribution from the nuclear specke to nucleoplasm.
INDUCTION: Accumulates in a hypoacetylated/phosphorylated form in response to cisplatin treatment.
PTM: 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.
PTM: 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.
SIMILARITY: Belongs to the splicing factor SR family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SRSF2
Diseases sorted by gene-association score: holt-oram syndrome (8), ovarian mucinous neoplasm (7), sm-ahnmd (6), amyotrophic neuralgia (6), growth hormone deficiency, isolated, type ii (6), myelofibrosis with myeloid metaplasia, somatic (1), retinitis pigmentosa (1), leukemia, acute myeloid (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.80171-0.426 Picture PostScript Text
3' UTR -248.201051-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF13893 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KN4 - NMR MuPIT 2LEA - NMR MuPIT 2LEB - NMR MuPIT 2LEC - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q01130
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003714 transcription corepressor activity
GO:0003723 RNA binding
GO:0005080 protein kinase C binding
GO:0005515 protein binding
GO:0036002 pre-mRNA binding

Biological Process:
GO:0000278 mitotic cell cycle
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0031124 mRNA 3'-end processing
GO:0033197 response to vitamin E
GO:0043484 regulation of RNA splicing
GO:1903507 negative regulation of nucleic acid-templated transcription

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0035061 interchromatin granule
GO:0016605 PML body


-  Descriptions from all associated GenBank mRNAs
  BC063570 - Homo sapiens cDNA clone IMAGE:3865015, **** WARNING: chimeric clone ****.
BC001303 - Homo sapiens splicing factor, arginine/serine-rich 2, mRNA (cDNA clone MGC:5480 IMAGE:3452024), complete cds.
BC000339 - Homo sapiens splicing factor, arginine/serine-rich 2, mRNA (cDNA clone MGC:8562 IMAGE:2822956), complete cds.
BC070086 - Homo sapiens splicing factor, arginine/serine-rich 2, mRNA (cDNA clone MGC:87441 IMAGE:5296371), complete cds.
AK126432 - Homo sapiens cDNA FLJ44468 fis, clone UTERU2026025, moderately similar to SPLICING FACTOR, ARGININE/SERINE-RICH 2.
AK093626 - Homo sapiens cDNA FLJ36307 fis, clone THYMU2004906, moderately similar to SPLICING FACTOR, ARGININE/SERINE-RICH 2.
AX748231 - Sequence 1756 from Patent EP1308459.
AK097069 - Homo sapiens cDNA FLJ39750 fis, clone SMINT2017736, moderately similar to SPLICING FACTOR, ARGININE/SERINE-RICH 2.
AK124792 - Homo sapiens cDNA FLJ42802 fis, clone BRCAN2002562, highly similar to Splicing factor, arginine/serine-rich 2.
M90104 - Human splicing factor SC35 mRNA, complete cds.
AK098209 - Homo sapiens cDNA FLJ40890 fis, clone UTERU2001024, highly similar to SPLICING FACTOR, ARGININE/SERINE-RICH 2.
BC066958 - Homo sapiens splicing factor, arginine/serine-rich 2, mRNA (cDNA clone MGC:87440 IMAGE:4837392), complete cds.
AK092489 - Homo sapiens cDNA FLJ35170 fis, clone PLACE6012942, highly similar to SPLICING FACTOR, ARGININE/SERINE-RICH 2.
AK123712 - Homo sapiens cDNA FLJ41718 fis, clone HLUNG2013097, highly similar to SPLICING FACTOR, ARGININE/SERINE-RICH 2.
AK223252 - Homo sapiens mRNA for splicing factor, arginine/serine-rich 2 variant, clone: STM04813.
MF436150 - Homo sapiens serine and arginine rich splicing factor 2 transcript variant 4 (SRSF2) mRNA, 3' UTR; alternatively spliced.
JD305037 - Sequence 286061 from Patent EP1572962.
JD410140 - Sequence 391164 from Patent EP1572962.
MF436151 - Homo sapiens serine and arginine rich splicing factor 2 transcript variant 5 (SRSF2) mRNA, partial cds and 3' UTR; alternatively spliced.
JD201740 - Sequence 182764 from Patent EP1572962.
JD241355 - Sequence 222379 from Patent EP1572962.
AK297813 - Homo sapiens cDNA FLJ52570 complete cds, highly similar to Splicing factor, arginine/serine-rich 2.
JD137185 - Sequence 118209 from Patent EP1572962.
JD025200 - Sequence 6224 from Patent EP1572962.
JD025131 - Sequence 6155 from Patent EP1572962.
JD028332 - Sequence 9356 from Patent EP1572962.
CU688224 - Synthetic construct Homo sapiens gateway clone IMAGE:100021020 5' read SFRS2 mRNA.
KJ901734 - Synthetic construct Homo sapiens clone ccsbBroadEn_11128 SRSF2 gene, encodes complete protein.
X62447 - H.sapiens PR264 mRNA.
BT007250 - Homo sapiens splicing factor, arginine/serine-rich 2 mRNA, complete cds.
KJ905314 - Synthetic construct Homo sapiens clone ccsbBroadEn_14839 SRSF2 gene, encodes complete protein.
DQ891210 - Synthetic construct clone IMAGE:100003840; FLH170184.01X; RZPDo839C0898D splicing factor, arginine/serine-rich 2 (SFRS2) gene, encodes complete protein.
KJ905916 - Synthetic construct Homo sapiens clone ccsbBroadEn_15586 SRSF2 gene, encodes complete protein.
DQ894393 - Synthetic construct Homo sapiens clone IMAGE:100008853; FLH170180.01L; RZPDo839C0897D splicing factor, arginine/serine-rich 2 (SFRS2) gene, encodes complete protein.
AB385010 - Synthetic construct DNA, clone: pF1KB4998, Homo sapiens SFRS2 gene for splicing factor, arginine/serine-rich 2, complete cds, without stop codon, in Flexi system.
HZ408714 - JP 2015528002-A/1311: CHIRAL CONTROL.
LG052048 - KR 1020150036642-A/1314: CHIRAL CONTROL.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_smPathway - Spliceosomal Assembly

Reactome (by CSHL, EBI, and GO)

Protein Q01130 (Reactome details) participates in the following event(s):

R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-75080 Formation of AT-AC A complex
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-75081 Formation of AT-AC B Complex
R-HSA-75082 ATAC spliceosome mediated Lariat formation,5' splice site cleavage
R-HSA-75079 Formation of AT-AC C complex
R-HSA-75083 ATAC spliceosome mediated 3' splice site cleavage, exon ligation
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72165 mRNA Splicing - Minor Pathway
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-72172 mRNA Splicing
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-8953854 Metabolism of RNA
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B3KWD5, B4DN89, ENST00000359995.1, ENST00000359995.2, ENST00000359995.3, ENST00000359995.4, ENST00000359995.5, ENST00000359995.6, ENST00000359995.7, ENST00000359995.8, ENST00000359995.9, H0YG49, NM_001195427, Q01130, SFRS2, SRSF2_HUMAN, uc318big.1, uc318big.2
UCSC ID: ENST00000359995.10_8
RefSeq Accession: NM_001195427.2
Protein: Q01130 (aka SRSF2_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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