TMEM138
| Transmembrane protein 138 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | TMEM138 ; HSPC196 | ||||||||||
| External IDs | OMIM: 614459 HomoloGene: 9518 GeneCards: TMEM138 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 51524 | 72982 | |||||||||
| Ensembl | ENSG00000149483 | ENSMUSG00000024666 | |||||||||
| UniProt | Q9NPI0 | Q9D6G5 | |||||||||
| RefSeq (mRNA) | NM_016464 | NM_001302218 | |||||||||
| RefSeq (protein) | NP_057548 | NP_001289147 | |||||||||
| Location (UCSC) |
Chr 11: 61.36 – 61.37 Mb |
Chr 19: 10.57 – 10.58 Mb | |||||||||
| PubMed search | |||||||||||
Transmembrane protein 138 is a protein that in humans is encoded by the TMEM138 gene.[1]
Clinical relevance
Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.[2]
References
- ↑ "Entrez Gene: Transmembrane protein 138". Retrieved 2012-01-30.
- ↑ Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG (Feb 2012). "Evolutionarily assembled cis-regulatory module at a human ciliopathy locus". Science 335 (6071): 966–9. doi:10.1126/science.1213506. PMID 22282472.
Further reading
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