GPR179
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| G protein-coupled receptor 179 | ||||||||
|---|---|---|---|---|---|---|---|---|
| Identifiers | ||||||||
| Symbols | GPR179; CSNB1E; GPR158L; GPR158L1 | |||||||
| External IDs | OMIM: 614515 MGI: 2443409 HomoloGene: 34917 IUPHAR: GPR179 GeneCards: GPR179 Gene | |||||||
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| Orthologs | ||||||||
| Species | Human | Mouse | ||||||
| Entrez | 440435 | 217143 | ||||||
| Ensembl | ENSG00000188888 | ENSMUSG00000070337 | ||||||
| UniProt | Q6PRD1 | E9PY61 | ||||||
| RefSeq (mRNA) | NM_001004334.2 | NM_001081220.1 | ||||||
| RefSeq (protein) | NP_001004334.2 | NP_001074689.1 | ||||||
| Location (UCSC) | Chr 17: 36.48 – 36.5 Mb |
Chr 11: 97.33 – 97.35 Mb |
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| PubMed search | [1] | [2] | ||||||
Probable G-protein coupled receptor 179 is a protein that in humans is encoded by the GPR179 gene.[1]
[edit] Clinical relevance
Mutations in this gene have been associated to cases of Congenital Stationary Night Blindness.[2]
[edit] References
- ^ "Entrez Gene: GPR179 G protein-coupled receptor 179". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=440435.
- ^ Audo, I; Bujakowska, K, Orhan, E, Poloschek, CM, Defoort-Dhellemmes, S, Drumare, I, Kohl, S, Luu, TD, Lecompte, O, Zrenner, E, Lancelot, ME, Antonio, A, Germain, A, Michiels, C, Audier, C, Letexier, M, Saraiva, JP, Leroy, BP, Munier, FL, Mohand-Saïd, S, Lorenz, B, Friedburg, C, Preising, M, Kellner, U, Renner, AB, Moskova-Doumanova, V, Berger, W, Wissinger, B, Hamel, CP, Schorderet, DF, De Baere, E, Sharon, D, Banin, E, Jacobson, SG, Bonneau, D, Zanlonghi, X, Le Meur, G, Casteels, I, Koenekoop, R, Long, VW, Meire, F, Prescott, K, de Ravel, T, Simmons, I, Nguyen, H, Dollfus, H, Poch, O, Léveillard, T, Nguyen-Ba-Charvet, K, Sahel, JA, Bhattacharya, SS, Zeitz, C (2012 Feb 10). "Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness.". American Journal of Human Genetics 90 (2): 321–30. doi:10.1016/j.ajhg.2011.12.007. PMID 22325361.
[edit] Further reading
- Bjarnadóttir TK, Fredriksson R, Schiöth HB (2006). "The gene repertoire and the common evolutionary history of glutamate, pheromone (V2R), taste(1) and other related G protein-coupled receptors.". Gene 362: 70–84. doi:10.1016/j.gene.2005.07.029. PMID 16229975.
- Zody MC, Garber M, Adams DJ, et al. (2006). "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.". Nature 440 (7087): 1045–9. doi:10.1038/nature04689. PMC 2610434. PMID 16625196. //www.ncbi.nlm.nih.gov/pmc/articles/PMC2610434/.
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