Gene
tmem216
- ID
- ZDB-GENE-100818-1
- Name
- transmembrane protein 216
- Symbol
- tmem216 Nomenclature History
- Previous Names
-
- si:rp71-1d10.5
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Involved in cilium assembly. Acts upstream of or within convergent extension involved in gastrulation and photoreceptor cell outer segment organization. Predicted to be located in several cellular components, including cell projection; cytoplasm; and cytoskeleton. Predicted to be active in ciliary transition zone. Is expressed in brain; eye; liver; muscle; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Joubert syndrome; Joubert syndrome 2; Meckel syndrome 2; and retinitis pigmentosa 98. Orthologous to human TMEM216 (transmembrane protein 216).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Liu et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 14 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-tmem216 | Liu et al., 2020 | |
| CRISPR2-tmem216 | Liu et al., 2020 | |
| CRISPR3-tmem216 | Wang et al., 2022 | |
| MO1-tmem216 | N/A | (2) |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Joubert syndrome 2 | Alliance | Joubert syndrome 2 | 608091 |
| Meckel syndrome 2 | Alliance | Meckel syndrome 2 | 603194 |
| retinitis pigmentosa 98 | Alliance | Retinitis pigmentosa 98 | 620996 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR019184 | Uncharacterised protein family, transmembrane-17 |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Uncharacterised protein family, transmembrane-17 |
|---|---|---|---|
| UniProtKB:E7EYQ9 | InterPro | ||
| UniProtKB:A0A8M1P9Z5 | InterPro | 143 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
tmem216-201
(1)
|
Ensembl | 710 nt | ||
| mRNA |
tmem216-202
(1)
|
Ensembl | 860 nt | ||
| mRNA |
tmem216-203
(1)
|
Ensembl | 617 nt | ||
| ncRNA |
tmem216-204
(1)
|
Ensembl | 672 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | RP71-1D10 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001328140 (1) | 627 nt | ||
| Genomic | GenBank:AL645792 (1) | 170221 nt | ||
| Polypeptide | UniProtKB:A0A8M1P9Z5 (1) | 143 aa |
- Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
- Liu, Y., Cao, S., Yu, M., Hu, H. (2020) TMEM216 Deletion Causes Mislocalization of Cone Opsin and Rhodopsin and Photoreceptor Degeneration in Zebrafish. Investigative ophthalmology & visual science. 61:24
- Venkatesh, B., Ravi, V., Lee, A.P., Warren, W.C., and Brenner, S. (2013) Basal vertebrates clarify the evolutionary history of ciliopathy-associated genes Tmem138 and Tmem216. Mol. Biol. Evol.. 30(1):62-65
- Lee, J.H., Silhavy, J.L., Lee, J.E., Al-Gazali, L., Thomas, S., Davis, E.E., Bielas, S.L., Hill, K.J., Iannicelli, M., Brancati, F., Gabriel, S.B., Russ, C., Logan, C.V., Sharif, S.M., Bennett, C.P., Abe, M., Hildebrandt, F., Diplas, B.H., Attié-Bitach, T., Katsanis, N., Rajab, A., Koul, R., Sztriha, L., Waters, E.R., Ferro-Novick, S., Woods, C.G., Johnson, C.A., Valente, E.M., Zaki, M.S., Gleeson, J.G. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (New York, N.Y.). 335:966-9
- Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196
- Huang, L., Szymanska, K., Jensen, V.L., Janecke, A.R., Innes, A.M., Davis, E.E., Frosk, P., Li, C., Willer, J.R., Chodirker, B.N., Greenberg, C.R., McLeod, D.R., Bernier, F.P., Chudley, A.E., Müller, T., Shboul, M., Logan, C.V., Loucks, C.M., Beaulieu, C.L., Bowie, R.V., Bell, S.M., Adkins, J., Zuniga, F.I., Ross, K.D., Wang, J., Ban, M.R., Becker, C., Nürnberg, P., Douglas, S., Craft, C.M., Akimenko, M.A., Hegele, R.A., Ober, C., Utermann, G., Bolz, H.J., Bulman, D.E., Katsanis, N., Blacque, O.E., Doherty, D., Parboosingh, J.S., Leroux, M.R., Johnson, C.A., and Boycott, K.M. (2011) TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone. American journal of human genetics. 89(6):713-730
- Valente, E.M., Logan, C.V., Mougou-Zerelli, S., Lee, J.H., Silhavy, J.L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., Adams, M., Szymanska, K., Mazzotta, A., Lee, J.E., Tolentino, J.C., Swistun, D., Salpietro, C.D., Fede, C., Gabriel, S., Russ, C., Cibulskis, K., Sougnez, C., Hildebrandt, F., Otto, E.A., Held, S., Diplas, B.H., Davis, E.E., Mikula, M., Strom, C.M., Ben-Zeev, B., Lev, D., Sagie, T.L., Michelson, M., Yaron, Y., Krause, A., Boltshauser, E., Elkhartoufi, N., Roume, J., Shalev, S., Munnich, A., Saunier, S., Inglehearn, C., Saad, A., Alkindy, A., Thomas, S., Vekemans, M., Dallapiccola, B., Katsanis, N., Johnson, C.A., Attié-Bitach, T., and Gleeson, J.G. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics. 42(7):619-625
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