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
Gene location (Human) Chr. Chromosome 20 (human) [1] Band 20q13.13 Start 49,812,713 bp [1] End 49,892,242 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 H3 Start 167,421,712 bp [2] End 167,477,000 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in blood gastrocnemius muscle spleen right lobe of liver gastric mucosa bone marrow cells Left adrenal gland right lobe of thyroid gland right uterine tube body of stomach Top expressed in proximal tubule yolk sac spermatocyte kidney extensor digitorum longus muscle corneal stroma superior frontal gyrus extraocular muscle entorhinal cortex cerebellar cortex More reference expression data BioGPS 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 Species Human Mouse Entrez 23315 77031 Ensembl ENSG00000197818 ENSMUSG00000039463 UniProt Q9Y2E8 Q8R4D1 RefSeq (mRNA) NM_001260491 NM_015266 NM_148929 NM_178371 NM_001304540 NM_001304542 RefSeq (protein) NP_001247420 NP_056081 NP_001291469 NP_001291471 NP_683731 Location (UCSC) Chr 20: 49.81 – 49.89 Mb Chr 2: 167.42 – 167.48 Mb PubMed search [3] [4]
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]

See also

• Solute carrier family

References

1. GRCh38: Ensembl release 89: ENSG00000197818 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: SLC9A8 solute carrier family 9 (sodium/hydrogen exchanger), member 8".
7. "Eye morphology data for Slc9a8". Wellcome Trust Sanger Institute.
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.
10. "International Knockout Mouse Consortium".
11. "Mouse Genome Informatics".
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.
13. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi: 10.1038/474262a . PMID   21677718.
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.
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.

Further reading

• 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.