Aliases for TMEM216 Gene
External Ids for TMEM216 Gene
Previous HGNC Symbols for TMEM216 Gene
Previous GeneCards Identifiers for TMEM216 Gene
This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010]
GeneCards Summary for TMEM216 Gene
TMEM216 (Transmembrane Protein 216) is a Protein Coding gene. Diseases associated with TMEM216 include Joubert Syndrome 2 and Meckel Syndrome, Type 2. Among its related pathways are superpathway of inositol phosphate compounds and Regulation of PLK1 Activity at G2/M Transition. An important paralog of this gene is TMEM80.
UniProtKB/Swiss-Prot Summary for TMEM216 Gene
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition.