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Protein Coding Gene : Tmem216 transmembrane protein 216
Primary Identifier  MGI:1920020 Organism  mouse, laboratory
Chromosome  19 NCBI Gene Number  68642
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Involved in cilium assembly. Located in ciliary transition zone. Part of MKS complex. Is expressed in embryo and optic vesicle. Human ortholog(s) of this gene implicated in Joubert syndrome; Joubert syndrome 2; and Meckel syndrome 2. Orthologous to human TMEM216 (transmembrane protein 216).
PHENOTYPE: Mice homozygous for a null allele display postnatal lethality with multiple abnormalities arising from ciliary defects. [provided by MGI curators]
  • synonyms:
  • expressed sequence AI482550,
  • RIKEN cDNA 4921533J23 gene,
  • MGI:2147568,
  • MGI:1918182,
  • A930021F15Rik,
  • AI482550,
  • RIKEN cDNA 1110017C22 gene,
  • transmembrane protein 216,
  • RIKEN cDNA A930021F15 gene,
  • 1110017C22Rik,
  • MGI:1915892,
  • 2810441K11Rik,
  • MGI:1924512,
  • 4921533J23Rik,
  • RIKEN cDNA 2810441K11 gene,
  • Tmem216
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