Gene
tmem138
- ID
- ZDB-GENE-120912-1
- Name
- transmembrane protein 138
- Symbol
- tmem138 Nomenclature History
- Previous Names
-
- tmem138a (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in cilium assembly. Predicted to be located in cell projection and vacuolar membrane. Predicted to be active in cilium. Human ortholog(s) of this gene implicated in Joubert syndrome 16. Orthologous to human TMEM138 (transmembrane protein 138).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Lee et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Joubert syndrome 16 | Alliance | Joubert syndrome 16 | 614465 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR024133 | Transmembrane protein 138 |
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Domain Details Per Protein
Protein | Additional Resources | Length | Transmembrane protein 138 |
---|---|---|---|
UniProtKB:A0AB13ABC9 | InterPro | 162 | |
UniProtKB:E7FDE0 | InterPro | 162 |
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Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
tmem138-201
(1)
|
Ensembl | 4,841 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 | CH211-247I17 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001423846 (1) | 3524 nt | ||
Genomic | GenBank:CU855758 (1) | 112125 nt | ||
Polypeptide | UniProtKB:A0AB13ABC9 (1) | 162 aa |
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Choksi, S.P., Babu, D., Lau, D., Yu, X., Roy, S. (2014) Systematic discovery of novel ciliary genes through functional genomics in the zebrafish. Development (Cambridge, England). 141:3410-9
- 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
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