Sodium/hydrogen exchanger 8

SLC9A8
Identifiers
Aliases	SLC9A8, NHE-8, NHE8, solute carrier family 9 member A8
External IDs	OMIM: 612730; MGI: 1924281; HomoloGene: 75041; GeneCards: SLC9A8; OMA:SLC9A8 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	49,892,242 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	167,477,000 bp
RNA expression pattern
	Top expressed in
	blood; ; granulocyte; ; gastrocnemius muscle; ; nasal epithelium; ; gonad; ; spleen; ; muscle of thigh; ; right lobe of liver; ; gastric mucosa; ; bone marrow cells;
	Top expressed in
	right kidney; ; Rostral migratory stream; ; Ileal epithelium; ; proximal tubule; ; muscle of thigh; ; genital tubercle; ; tail of embryo; ; yolk sac; ; spermatocyte; ; human kidney;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	solute:proton antiporter activity; antiporter activity; sodium:proton antiporter activity; potassium:proton antiporter activity;
Cellular component	integral component of membrane; Golgi membrane; membrane; plasma membrane; Golgi apparatus;
Biological process	proton transmembrane transport; potassium ion transport; cation transport; ion transport; sodium ion transmembrane transport; regulation of pH; sodium ion transport; regulation of intracellular pH; sodium ion import across plasma membrane; potassium ion transmembrane transport; transmembrane transport; anion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	23315
	77031
	ENSG00000197818
	ENSMUSG00000039463
	Q9Y2E8
	Q8R4D1
	NM_001260491; NM_015266
	NM_148929; NM_178371; NM_001304540; NM_001304542
	NP_001247420; NP_056081
	NP_001291469; NP_001291471; NP_683731
	Wikidata
View/Edit Human	View/Edit Mouse

Sodium/hydrogen exchanger 8 is a protein that in humans is encoded by the SLC9A8 gene.^[5]^[6]

Model organisms

*Slc9a8* knockout mouse phenotype
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^[7]
Clinical chemistry	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Brain histopathology	Normal
All tests and analysis from^[8]^[9]

Model organisms have been used in the study of SLC9A8 function. A conditional knockout mouse line, called Slc9a8^{tm1a(KOMP)Wtsi}^[10]^[11] 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.^[12]^[13]^[14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[8]^[15] Twenty one tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant animals had abnormal retinal morphology and pigmentation.^[8]

References

^ ^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".
^ "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. S2CID 85911512.
^ 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. S2CID 18872015.
^ 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000197818 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039463 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12409279-5] 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-6] "Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8".

[Eye_morphology-7] "Eye morphology data for Slc9a8". Wellcome Trust Sanger Institute.

[mgp_reference-8] 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. S2CID 85911512.

[9] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-10] "International Knockout Mouse Consortium".

[mgi_allele_ref-11] "Mouse Genome Informatics".

[pmid21677750-12] 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.

[mouse_library-13] Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-14] 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. S2CID 18872015.

[pmid21722353-15] 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)

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Sodium/hydrogen exchanger 8

Model organisms

See also

References

Further reading