SLC9A8: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''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 | pmc =  | 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| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =  
| Name = Solute carrier family 9 (sodium/hydrogen exchanger), member 8
| HGNCid = 20728
| Symbol = SLC9A8
| AltSymbols =; DKFZp686C03237; FLJ42500; KIAA0939; MGC138418; NHE8
| OMIM =
| ECnumber =
| Homologene = 75041
| MGIid = 1924281
  | GeneAtlas_image1 = PBB_GE_SLC9A8_212947_at_tn.png
| GeneAtlas_image2 = PBB_GE_SLC9A8_gnf1h01982_at_tn.png
| Function = {{GNF_GO|id=GO:0015297 |text = antiporter activity}} {{GNF_GO|id=GO:0015299 |text = solute:hydrogen antiporter activity}} {{GNF_GO|id=GO:0015385 |text = sodium:hydrogen antiporter activity}}
| Component = {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006814 |text = sodium ion transport}} {{GNF_GO|id=GO:0006885 |text = regulation of pH}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23315
    | Hs_Ensembl = ENSG00000197818
    | Hs_RefseqProtein = NP_056081
    | Hs_RefseqmRNA = NM_015266
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 20
    | Hs_GenLoc_start = 47862657
    | Hs_GenLoc_end = 47942179
    | Hs_Uniprot = Q9Y2E8
    | Mm_EntrezGene = 77031
    | Mm_Ensembl = ENSMUSG00000039463
    | Mm_RefseqmRNA = NM_148929
    | Mm_RefseqProtein = NP_683731
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 167112926
    | Mm_GenLoc_end = 167168203
    | Mm_Uniprot = Q69ZU9
  }}
}}
'''Solute carrier family 9 (sodium/hydrogen exchanger), member 8''', also known as '''SLC9A8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23315| accessdate = }}</ref>


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| summary_text =  
}}
}}
==Model organisms==
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Slc9a8'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
|-
| [[Homozygote]] viability || bgcolor="#488ED3"|Normal
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| 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>
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Brain histopathology || bgcolor="#488ED3"|Normal
|-
| 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 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[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
| last1 = Skarnes |first1 =W. C.
| doi = 10.1038/nature10163
| last2 = Rosen | first2 = B.
| last3 = West | first3 = A. P.
| last4 = Koutsourakis | first4 = M.
| last5 = Bushell | first5 = W.
| last6 = Iyer | first6 = V.
| last7 = Mujica | first7 = A. O.
| last8 = Thomas | first8 = M.
| last9 = Harrow | first9 = J.
| last10 = Cox | first10 = T.
| last11 = Jackson | first11 = D.
| last12 = Severin | first12 = J.
| last13 = Biggs | first13 = P.
| last14 = Fu | first14 = J.
| last15 = Nefedov | first15 = M.
| last16 = De Jong | first16 = P. J.
| last17 = Stewart | first17 = A. F.
| last18 = Bradley | first18 = A.
| title = A conditional knockout resource for the genome-wide study of mouse gene function
| journal = Nature
| volume = 474
| issue = 7351
| pages = 337–342
| year = 2011
| pmid = 21677750
| pmc =3572410
}}</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 }}</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 }}</ref>
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" />


==See also==
==See also==
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==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal | author=Nakajima D, Okazaki N, Yamakawa H, ''et al.'' |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99-106 |year= 2003 |pmid= 12168954 |doi=  }}
*{{cite journal   |vauthors=Nakajima D, Okazaki N, Yamakawa H, etal |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 }}
*{{cite journal  | author=Orlowski J, Grinstein S |title=Diversity of the mammalian sodium/proton exchanger SLC9 gene family. |journal=Pflugers Arch. |volume=447 |issue= 5 |pages= 549-65 |year= 2004 |pmid= 12845533 |doi= 10.1007/s00424-003-1110-3 }}
*{{cite journal  |author1=Orlowski J |author2=Grinstein S |title=Diversity of the mammalian sodium/proton exchanger SLC9 gene family. |journal=Pflugers Arch. |volume=447 |issue= 5 |pages= 549–65 |year= 2004 |pmid= 12845533 |doi= 10.1007/s00424-003-1110-3 }}
*{{cite journal | author=Nagase T, Ishikawa K, Suyama M, ''et al.'' |title=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. |journal=DNA Res. |volume=6 |issue= 1 |pages= 63-70 |year= 1999 |pmid= 10231032 |doi=  }}
*{{cite journal   |vauthors=Nagase T, Ishikawa K, Suyama M, etal |title=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. |journal=DNA Res. |volume=6 |issue= 1 |pages= 63–70 |year= 1999 |pmid= 10231032 |doi=10.1093/dnares/6.1.63 }}
*{{cite journal | author=Deloukas P, Matthews LH, Ashurst J, ''et al.'' |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865-71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal   |vauthors=Deloukas P, Matthews LH, Ashurst J, etal |title=The DNA sequence and comparative analysis of human chromosome 20. |journal=Nature |volume=414 |issue= 6866 |pages= 865–71 |year= 2002 |pmid= 11780052 |doi= 10.1038/414865a }}
*{{cite journal | author=Goyal S, Vanden Heuvel G, 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 |year= 2003 |pmid= 12409279 |doi= 10.1152/ajprenal.00352.2002 }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal   |vauthors=Nakamura N, Tanaka S, Teko Y, etal |title=Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation |journal=J. Biol. Chem. |volume=280 |issue= 2 |pages= 1561–72 |year= 2005 |pmid= 15522866 |doi= 10.1074/jbc.M410041200 }}
*{{cite journal | author=Nakamura N, Tanaka S, Teko Y, ''et al.'' |title=Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation. |journal=J. Biol. Chem. |volume=280 |issue= 2 |pages= 1561-72 |year= 2005 |pmid= 15522866 |doi= 10.1074/jbc.M410041200 }}
*{{cite journal   |vauthors=Olsen JV, Blagoev B, Gnad F, etal |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635-48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 }}
*{{cite journal  |author1=Xu H |author2=Li J |author3=Chen H |author4=Wang C |author5=Ghishan FK |title=NHE8 plays important roles in gastric mucosal protection |journal=Am J Physiol Gastrointest Liver Physiol |volume=304 |issue= 3 |pages= G257-61 |year= 2013 |pmid= 23220221 |doi= 10.1152/ajpgi.00433.2012 |pmc=3566513}}
}}
}}
{{refend}}
{{refend}}


{{membrane-protein-stub}}
{{Membrane transport proteins}}
{{Membrane transport proteins}}
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[[Category:Solute carrier family]]
[[Category:Solute carrier family]]
{{WikiDoc Sources}}
[[Category:Genes mutated in mice]]
 
 
{{membrane-protein-stub}}

Revision as of 06:36, 11 September 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Sodium/hydrogen exchanger 8 is a protein that in humans is encoded by the SLC9A8 gene.[1][2]


Model organisms

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

References

  1. 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.
  2. "Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8".
  3. "Eye morphology data for Slc9a8". Wellcome Trust Sanger Institute.
  4. 4.0 4.1 4.2 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.
  5. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  6. "International Knockout Mouse Consortium".
  7. "Mouse Genome Informatics".
  8. 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.
  9. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  10. 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.
  11. 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