SRSF2 Chromosome 17
Serine and arginine rich splicing factor 2
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What This Gene Does
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]
Gene Info
Gene Group
"RNA binding motif containing|Serine and arginine rich splicing factors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
17q25.2
Ensembl
ENSG00000161547
Associated Conditions (4)
Acute megakaryoblastic leukemia in down syndrome
Atypical chronic myeloid leukemia
BCR-ABL1 negative
Acute myeloid leukemia
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS751713049 | Health Risk | Pathogenic | Acute megakaryoblastic leukemia in down syndrome, Atypical chronic myeloid leukemia, BCR-ABL1 negative |