SRSF2 (serine and arginine rich splicing factor 2)

2012-06-01  

Identity

HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
PR264,SC-35,SC35,SFRS2,SFRS2A,SRp30b
FUSION GENES

Other Information

Locus ID:

NCBI: 6427
MIM: 600813
HGNC: 10783
Ensembl: ENSG00000161547

Variants:

dbSNP: 6427
ClinVar: 6427
TCGA: ENSG00000161547
COSMIC: SRSF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000161547ENST00000358156J3KP15
ENSG00000161547ENST00000359995Q01130
ENSG00000161547ENST00000359995A0A024R8U5
ENSG00000161547ENST00000392485Q01130
ENSG00000161547ENST00000392485A0A024R8U5
ENSG00000161547ENST00000452355Q01130
ENSG00000161547ENST00000452355A0A024R8U5
ENSG00000161547ENST00000508921Q01130
ENSG00000161547ENST00000583836J3QL05
ENSG00000161547ENST00000585202Q01130
ENSG00000161547ENST00000585202A0A024R8U5

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing TranscriptREACTOMER-HSA-159236

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117795092001Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins.150
223234802012Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.146
255503612015Acute myeloid leukemia ontogeny is defined by distinct somatic mutations.146
223892532012Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.124
288101452017Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma.123
167612802006Molecular anatomy of a speckle.83
229190252012SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML).79
262613092015Disease-associated mutation in SRSF2 misregulates splicing by altering RNA-binding affinities.67
147035162004SC35 and heterogeneous nuclear ribonucleoprotein A/B proteins bind to a juxtaposed exonic splicing enhancer/exonic splicing silencer element to regulate HIV-1 tat exon 2 splicing.54
224315772012Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome.53

Citation

Dessen P

SRSF2 (serine and arginine rich splicing factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52737/srsf2-(serine-and-arginine-rich-splicing-factor-2)