SLC9A8
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| Solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 | ||||||||
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| Identifiers | ||||||||
| Symbols | SLC9A8 ; NHE-8; NHE8 | |||||||
| External IDs | OMIM: 612730 MGI: 1924281 HomoloGene: 75041 GeneCards: SLC9A8 Gene | |||||||
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| RNA expression pattern | ||||||||
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| More reference expression data | ||||||||
| Orthologs | ||||||||
| Species | Human | Mouse | ||||||
| Entrez | 23315 | 77031 | ||||||
| Ensembl | ENSG00000197818 | ENSMUSG00000039463 | ||||||
| UniProt | Q9Y2E8 | Q8R4D1 | ||||||
| RefSeq (mRNA) | NM_001260491 | NM_001304540 | ||||||
| RefSeq (protein) | NP_001247420 | NP_001291469 | ||||||
| Location (UCSC) | Chr 20: 49.81 – 49.89 Mb |
Chr 2: 167.42 – 167.48 Mb |
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| PubMed search | [1] | [2] | ||||||
Sodium/hydrogen exchanger 8 is a protein that in humans is encoded by the SLC9A8 gene.[1][2]
Model organisms[edit]
| Characteristic | Phenotype |
|---|---|
| Homozygote viability | Normal |
| Fertility | Normal |
| Body weight | Normal |
| Anxiety | Normal |
| Neurological assessment | Normal |
| Grip strength | Normal |
| Hot plate | Normal |
| Dysmorphology | Normal |
| Indirect calorimetry | Normal |
| Glucose tolerance test | Normal |
| Auditory brainstem response | Normal |
| DEXA | Normal |
| Radiography | Normal |
| Body temperature | Normal |
| Eye morphology | Abnormal[3] |
| Clinical chemistry | Normal |
| Haematology | Normal |
| Peripheral blood lymphocytes | Normal |
| Micronucleus test | Normal |
| Heart weight | Normal |
| Brain histopathology | Normal |
| All tests and analysis from[4][5] |
Model organisms have been used in the study of SLC9A8 function. A conditional knockout mouse line, called Slc9a8tm1a(KOMP)Wtsi[6][7] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[8][9][10]
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[4][11] Twenty one tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant animals had abnormal retinal morphology and pigmentation.[4]
See also[edit]
References[edit]
- ^ Goyal S, Vanden Heuvel G, Aronson PS (Jan 2003). "Renal expression of novel Na+/H+ exchanger isoform NHE8". Am J Physiol Renal Physiol 284 (3): F467–73. doi:10.1152/ajprenal.00352.2002. PMID 12409279.
- ^ "Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8".
- ^ "Eye morphology data for Slc9a8". Wellcome Trust Sanger Institute.
- ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
- ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
- ^ "International Knockout Mouse Consortium".
- ^ "Mouse Genome Informatics".
- ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
- ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
- ^ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
- ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
Further reading[edit]
- Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
- Orlowski J, Grinstein S (2004). "Diversity of the mammalian sodium/proton exchanger SLC9 gene family.". Pflugers Arch. 447 (5): 549–65. doi:10.1007/s00424-003-1110-3. PMID 12845533.
- Nagase T, Ishikawa K, Suyama M, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.". DNA Res. 6 (1): 63–70. doi:10.1093/dnares/6.1.63. PMID 10231032.
- Deloukas P, Matthews LH, Ashurst J, et al. (2002). "The DNA sequence and comparative analysis of human chromosome 20.". Nature 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Nakamura N, Tanaka S, Teko Y, et al. (2005). "Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation". J. Biol. Chem. 280 (2): 1561–72. doi:10.1074/jbc.M410041200. PMID 15522866.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
- Xu H, Li J, Chen H, Wang C, Ghishan FK (2013). "NHE8 plays important roles in gastric mucosal protection". Am J Physiol Gastrointest Liver Physiol 304 (3): G257–61. doi:10.1152/ajpgi.00433.2012. PMC 3566513. PMID 23220221.
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