Sodium/hydrogen exchanger 8: Difference between revisions
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Importing Wikidata short description: Protein-coding gene in the species Homo sapiens (shortdescs-in-category) |
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{{Short description|Protein-coding gene in the species Homo sapiens}} |
{{Short description|Protein-coding gene in the species Homo sapiens}} |
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⚫ | {{Infobox_gene}}'''Sodium/hydrogen exchanger 8''' is a [[protein]] that in humans is encoded by the ''SLC9A8'' [[gene]].<ref name="pmid12409279">{{cite journal |author1=Goyal S |author2=Vanden Heuvel G |author3=Aronson PS | title = Renal expression of novel Na+/H+ exchanger isoform NHE8 | journal = Am J Physiol Renal Physiol | volume = 284 | issue = 3 | pages = F467–73 |date=Jan 2003 | pmid = 12409279 | doi = 10.1152/ajprenal.00352.2002 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23315}}</ref> |
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{{Infobox_gene}} |
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⚫ | '''Sodium/hydrogen exchanger 8''' is a [[protein]] that in humans is encoded by the ''SLC9A8'' [[gene]].<ref name="pmid12409279">{{cite journal |author1=Goyal S |author2=Vanden Heuvel G |author3=Aronson PS | title = Renal expression of novel Na+/H+ exchanger isoform NHE8 | journal = Am J Physiol Renal Physiol | volume = 284 | issue = 3 | pages = F467–73 |date=Jan 2003 | pmid = 12409279 | doi = 10.1152/ajprenal.00352.2002 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23315}}</ref> |
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==Model organisms== |
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{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" | |
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|+ ''Slc9a8'' knockout mouse phenotype |
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! Characteristic!! Phenotype |
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| [[Homozygote]] viability || bgcolor="#488ED3"|Normal |
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| Fertility || bgcolor="#488ED3"|Normal |
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| Body weight || bgcolor="#488ED3"|Normal |
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| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal |
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| Neurological assessment || bgcolor="#488ED3"|Normal |
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| Grip strength || bgcolor="#488ED3"|Normal |
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| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal |
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| [[Dysmorphology]] || bgcolor="#488ED3"|Normal |
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| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal |
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| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal |
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| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal |
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| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal |
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| [[Radiography]] || bgcolor="#488ED3"|Normal |
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| Body temperature || bgcolor="#488ED3"|Normal |
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| Eye morphology || bgcolor="#C40000"|Abnormal<ref name="Eye morphology">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MBFA/eye-morphology/ |title=Eye morphology data for Slc9a8 |publisher=Wellcome Trust Sanger Institute}}</ref> |
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| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal |
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| [[Haematology]] || bgcolor="#488ED3"|Normal |
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| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal |
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| [[Micronucleus test]] || bgcolor="#488ED3"|Normal |
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| Heart weight || bgcolor="#488ED3"|Normal |
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| Brain histopathology || bgcolor="#488ED3"|Normal |
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| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal| doi = 10.1111/j.1755-3768.2010.4142.x| title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice| year = 2010| author = Gerdin AK| journal = Acta Ophthalmologica| volume = 88| issue = S248 | s2cid = 85911512}}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref> |
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[[Model organism]]s have been used in the study of SLC9A8 function. A conditional [[knockout mouse]] line, called ''Slc9a8<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Slc9a8 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4363224 |title=Mouse Genome Informatics}}</ref> 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]].<ref name="pmid21677750">{{Cite journal |
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| last1 = Skarnes |first1 =W. C. |
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| doi = 10.1038/nature10163 |
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| last2 = Rosen | first2 = B. |
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| last3 = West | first3 = A. P. |
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| last4 = Koutsourakis | first4 = M. |
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| last5 = Bushell | first5 = W. |
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| last6 = Iyer | first6 = V. |
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| last7 = Mujica | first7 = A. O. |
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| last8 = Thomas | first8 = M. |
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| last9 = Harrow | first9 = J. |
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| last10 = Cox | first10 = T. |
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| last11 = Jackson | first11 = D. |
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| last12 = Severin | first12 = J. |
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| last13 = Biggs | first13 = P. |
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| last14 = Fu | first14 = J. |
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| last15 = Nefedov | first15 = M. |
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| last16 = De Jong | first16 = P. J. |
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| last17 = Stewart | first17 = A. F. |
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| last18 = Bradley | first18 = A. |
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| title = A conditional knockout resource for the genome-wide study of mouse gene function |
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| journal = Nature |
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| volume = 474 |
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| issue = 7351 |
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| pages = 337–342 |
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| year = 2011 |
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| pmid = 21677750 |
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| pmc =3572410 |
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}}</ref><ref name="mouse_library">{{cite journal |author=Dolgin E |title=Mouse library set to be knockout |journal=Nature |volume=474 |issue=7351 |pages=262–3 |date=June 2011 |pmid=21677718 |doi=10.1038/474262a |doi-access=free }}</ref><ref name="mouse_for_all_reasons">{{cite journal |author1=Collins FS |author2=Rossant J |author3=Wurst W |title=A mouse for all reasons |journal=Cell |volume=128 |issue=1 |pages=9–13 |date=January 2007 |pmid=17218247 |doi=10.1016/j.cell.2006.12.018 |s2cid=18872015 |doi-access=free }}</ref> |
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Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal|author1=van der Weyden L |author2=White JK |author3=Adams DJ |author4=Logan DW | title=The mouse genetics toolkit: revealing function and mechanism. | journal=Genome Biol | year= 2011 | volume= 12 | issue= 6 | pages= 224 | pmid=21722353 | doi=10.1186/gb-2011-12-6-224 | pmc=3218837}}</ref> Twenty one tests were carried out on [[mutant]] mice and one significant abnormality was observed: [[homozygous]] mutant animals had abnormal [[retina]]l morphology and pigmentation.<ref name="mgp_reference" /> |
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==See also== |
==See also== |
Latest revision as of 01:03, 1 December 2023
Sodium/hydrogen exchanger 8 is a protein that in humans is encoded by the SLC9A8 gene.[5][6]
See also
[edit]References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000197818 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000039463 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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".
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". Pflügers Arch. 447 (5): 549–65. doi:10.1007/s00424-003-1110-3. PMID 12845533. S2CID 5691463.
- 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. Bibcode:2001Natur.414..865D. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 7827573.
- 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.