ID:TM216_HUMAN DESCRIPTION: RecName: Full=Transmembrane protein 216; FUNCTION: Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). SUBUNIT: Part of the tectonic-like complex (also named B9 complex) (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Cytoplasm, cytoskeleton, cilium basal body (By similarity). Note=Localizes at the transition zone, a region between the basal body and the ciliary axoneme (By similarity). DISEASE: Defects in TMEM216 are a cause of Joubert syndrome type 2 (JBTS2) [MIM:608091]. JBTS2 is a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. DISEASE: Defects in TMEM216 are the cause of Meckel syndrome type 2 (MKS2) [MIM:603194]. It is a form of Meckel syndrome, an autosomal recessive disorder. It is characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. MISCELLANEOUS: TMEM138 and TMEM216 genes are adjacent and are aligned in a head-to-tail configuration. They share some cis regulatory region and display coordinated expression. Genes were joined by chromoaomal rearrangement at the amphiboan to reptile evolutionary transition around 340 million years ago (PubMed:22282472).
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF09799 - Predicted membrane protein
ModBase Predicted Comparative 3D Structure on Q9P0N5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AK303687 - Homo sapiens cDNA FLJ55824 complete cds. KU159424 - Homo sapiens transmembrane protein 216 (TMEM216) mRNA, complete cds. BC011010 - Homo sapiens transmembrane protein 216, mRNA (cDNA clone MGC:13379 IMAGE:4286625), complete cds. AF151078 - Homo sapiens HSPC244 mRNA, complete cds. JD408725 - Sequence 389749 from Patent EP1572962. JD490029 - Sequence 471053 from Patent EP1572962. JD256257 - Sequence 237281 from Patent EP1572962. JD241228 - Sequence 222252 from Patent EP1572962. CR457166 - Homo sapiens full open reading frame cDNA clone RZPDo834E028D for gene MGC:13379, HSPC244; complete cds, incl. stopcodon. KJ898869 - Synthetic construct Homo sapiens clone ccsbBroadEn_08263 TMEM216 gene, encodes complete protein. JD050912 - Sequence 31936 from Patent EP1572962. JD104266 - Sequence 85290 from Patent EP1572962. JD255134 - Sequence 236158 from Patent EP1572962. JD402651 - Sequence 383675 from Patent EP1572962. JD512123 - Sequence 493147 from Patent EP1572962. JD348344 - Sequence 329368 from Patent EP1572962. JD523935 - Sequence 504959 from Patent EP1572962. DQ580555 - Homo sapiens piRNA piR-48667, complete sequence.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9P0N5 (Reactome details) participates in the following event(s):
R-HSA-5626681 Recruitment of transition zone proteins R-HSA-5638009 CEP164 recruits RAB3IP-carrying Golgi-derived vesicles to the basal body R-HSA-5617816 RAB3IP stimulates nucleotide exchange on RAB8A R-HSA-5620912 Anchoring of the basal body to the plasma membrane R-HSA-5617833 Cilium Assembly R-HSA-1852241 Organelle biogenesis and maintenance
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
