Free for academic non-profit institutions. Other users need a Commercial license
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]
SRSF2 (Serine And Arginine Rich Splicing Factor 2) is a Protein Coding gene. Diseases associated with SRSF2 include Aggressive Systemic Mastocytosis and Systemic Mastocytosis With Associated Hematologic Neoplasm. Among its related pathways are Cleavage of Growing Transcript in the Termination Region and mRNA Splicing - Minor Pathway. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is SRSF8.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003714 | transcription corepressor activity | NAS | 15652350 |
GO:0003723 | RNA binding | IEA,IBA | 21873635 |
GO:0005080 | protein kinase C binding | IEA | -- |
GO:0005515 | protein binding | IPI | 9237760 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 15652350 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005681 | spliceosomal complex | IEA | -- |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
2 | Cleavage of Growing Transcript in the Termination Region | ||
3 | Transport of Mature Transcript to Cytoplasm | ||
4 | Herpes simplex virus 1 infection | ||
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000278 | mitotic cell cycle | IEA | -- |
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IEA,IBA | 21873635 |
GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
GO:0006397 | mRNA processing | TAS | 8530103 |
GO:0006405 | RNA export from nucleus | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - | - | |||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
SRSF2 30 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chimpanzee (Pan troglodytes) |
Mammalia | SRSF2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SRSF2 30 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Srsf2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Srsf2 30 17 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | SRSF2 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | MGC75633 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | srsf2a 31 |
|
ManyToMany | |
srsf2b 31 |
|
ManyToMany | |||
Dr.8481 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3833 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | SC35 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | rsp-4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11125 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3433 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1064796272 | Uncertain Significance: not provided | 76,736,271(-) | GGGACCT/G | NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION |
Disorder | Aliases | PubMed IDs |
---|---|---|
aggressive systemic mastocytosis |
|
|
systemic mastocytosis with associated hematologic neoplasm |
|
|
chronic myelomonocytic leukemia |
|
|
chronic neutrophilic leukemia |
|
|
systemic mastocytosis |
|
|