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Protein Coding Gene : Srsf2 serine and arginine-rich splicing factor 2

Primary Identifier  MGI:98284 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  20382
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables pre-mRNA binding activity. Acts upstream of or within regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Part of spliceosomal complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; hemolymphoid system gland; and retina. Used to study myelodysplastic syndrome. Human ortholog(s) of this gene implicated in acute myeloid leukemia; congestive heart failure; hepatocellular carcinoma; and myelodysplastic syndrome. Orthologous to human SRSF2 (serine and arginine rich splicing factor 2).
PHENOTYPE: Homozygous mutants are embryonic lethal. Deaths occur prior to E7.5. Cre induced inactivation of this pre-mRNA splicing factor in the thymus impairs T-cell maturation. Inactivation in ventricular cardiomyocytes results in dilated cardiomyopathy without gross changes in cardiomyocyte development. [provided by MGI curators]
  • synonyms:
  • MRF-1,
  • Sfrs10,
  • D11Wsu175e,
  • DNA segment, Chr 11, Wayne State University 175, expressed,
  • Sfrs2,
  • splicing factor, arginine/serine-rich 2 (SC-35),
  • MGD-MRK-14372,
  • MGD-MRK-36448,
  • serine and arginine-rich splicing factor 2,
  • MGD-MRK-28142,
  • Srsf2,
  • MGI:104846,
  • MGI:107871,
  • SC35,
  • splicing factor, arginine/serine-rich 10

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11 Pathways

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