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Protein Coding Gene : Sdccag8 serologically defined colon cancer antigen 8

Primary Identifier  MGI:1924066 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  76816
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

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).
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]
  • synonyms:
  • serologically defined colon cancer antigen 8,
  • MGI:1917837,
  • Sdccag8,
  • CCCAP,
  • 2700048G21Rik,
  • 5730470G24Rik,
  • RIKEN cDNA 5730470G24 gene,
  • RIKEN cDNA 2700048G21 gene

Features --> Cross References

Genome

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0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

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0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

16 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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