Version: 8.0.0
Date: Tue Jan 28 2025
SRSF6
Homo sapiensHGNC:10788
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

SRSF6

Species
Homo sapiens
Symbol
SRSF6
Name
serine and arginine rich splicing factor 6
Synonyms
  • arginine/serine-rich splicing factor 6
  • B52
Biotype
protein coding gene
Automated Description
Enables pre-mRNA binding activity. Involved in several processes, including mRNA splicing, via spliceosome; negative regulation of keratinocyte differentiation; and negative regulation of mRNA splicing, via spliceosome. Acts upstream of or within positive regulation of epithelial cell proliferation involved in lung morphogenesis and regulation of alternative mRNA splicing, via spliceosome. Located in nuclear speck. Implicated in proliferative diabetic retinopathy and spermatogenic failure 3. Biomarker of Huntington's disease; clear cell renal cell carcinoma; colon adenocarcinoma; lung cancer; and skin cancer.
RGD Description
The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR48038
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          SRSF6 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            SRSF6 role
            SRSF6 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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