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Protein Coding Gene : Cfap52 cilia and flagella associated protein 52

Primary Identifier  MGI:1919110 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  71860
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Involved in flagellated sperm motility. Acts upstream of or within several processes, including microtubule sliding; single fertilization; and spermatid development. Is active in axonemal B tubule inner sheath and sperm midpiece. Is expressed in several structures, including brain ventricle and choroid plexus and epithelium. Human ortholog(s) of this gene implicated in visceral heterotaxy. Orthologous to human CFAP52 (cilia and flagella associated protein 52).
PHENOTYPE: Mice homozygous for a null allele exhibit 52% penetrance of hydrocephalus which leads to death within 2 months. Males are infertile, exhibiting asthenozoospermia with disconnected midpiece and principal piece without defects in the axoneme. [provided by MGI curators]
  • synonyms:
  • Cfap52,
  • RIKEN cDNA 1700019F09 gene,
  • WD repeat domain 16,
  • RIKEN cDNA 4933417B11 gene,
  • Wdr16,
  • MGI:1918360,
  • cilia and flagella associated protein 52,
  • 1700019F09Rik,
  • 4933417B11Rik

Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

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1 Involved In Mutations

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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

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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