Gene

Sdccag8

Species
Mus musculus
Symbol
Sdccag8
Name
serologically defined colon cancer antigen 8
Synonyms
  • 2700048G21Rik
  • 5730470G24Rik
Biotype
protein coding gene
Automated Description
Involved in establishment of cell polarity; regulation of cilium assembly; and tube formation. Acts upstream of or within microtubule organizing center organization and neuron migration. Located in cytoplasm; microtubule organizing center; and photoreceptor cell cilium. Is expressed in brain. Used to study Bardet-Biedl syndrome 16 and nephronophthisis. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 16 and Senior-Loken syndrome. Orthologous to human SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8).
MGI Description
PHENOTYPE: Homozygotes for a null allele show postnatal lethality, cleft palate, polydactyly, enlarged lateral ventricles and impaired neuronal migration. Homozygotes for a gene trap allele show late-onset nephronophthisis associated with renal cysts and fibrosis, and retinal degeneration leading to blindness. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR34343
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

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    Disease Associations

    Cases where the expected disease association was NOT found
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    Alleles and Variants

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      Transgenic Alleles

      Species
      (carrying the transgene)
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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Sdccag8 molecule type
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            Genetic Interactions

            Sdccag8 role
            Sdccag8 genetic perturbation
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