SLC4A11

Solute carrier family 4, sodium borate transporter, member 11
Identifiers
Symbols	SLC4A11 ; BTR1; CDPD1; CHED2; NABC1; dJ794I6.2
External IDs	OMIM: 610206 MGI: 2138987 HomoloGene: 12931 GeneCards: SLC4A11 Gene
Gene ontology Molecular function • sodium channel activity • inorganic anion exchanger activity • bicarbonate transmembrane transporter activity • hydrogen ion channel activity • symporter activity • borate transmembrane transporter activity • protein dimerization activity Cellular component • integral component of plasma membrane • basolateral plasma membrane Biological process • sodium ion transport • bicarbonate transport • proton transport • cellular cation homeostasis • borate transmembrane transport • sodium ion transmembrane transport • fluid transport • borate transport • regulation of intracellular pH Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	83959	269356
Ensembl	ENSG00000088836	ENSMUSG00000074796
UniProt	Q8NBS3	A2AJN7
RefSeq (mRNA)	NM_001174089	NM_001081162
RefSeq (protein)	NP_001167560	NP_001074631
Location (UCSC)	Chr 20: 3.23 – 3.24 Mb	Chr 2: 130.68 – 130.7 Mb
PubMed search

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.^[1][2][3][4]

See also

• Solute carrier family
• Congenital endothelial dystrophy type 2

References

1. Luong A, Hannah VC, Brown MS, Goldstein JL (Sep 2000). "Molecular characterization of human acetyl-CoA synthetase, an enzyme regulated by sterol regulatory element-binding proteins". J Biol Chem 275 (34): 26458–66. doi:10.1074/jbc.M004160200. PMID 10843999.
2. Parker MD, Ourmozdi EP, Tanner MJ (Apr 2001). "Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney". Biochem Biophys Res Commun 282 (5): 1103–9. doi:10.1006/bbrc.2001.4692. PMID 11302728.
3. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T (Jun 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat Genet 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101.
4. "Entrez Gene: SLC4A11 solute carrier family 4, sodium bicarbonate transporter-like, member 11".

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Callaghan M, Hand CK, Kennedy SM, et al. (1999). "Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct". The British journal of ophthalmology 83 (1): 115–9. doi:10.1136/bjo.83.1.115. PMC 1722772. PMID 10209448.
• Hand CK, Harmon DL, Kennedy SM, et al. (1999). "Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping". Genomics 61 (1): 1–4. doi:10.1006/geno.1999.5920. PMID 10512674.
• 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.
• Moroi SE, Gokhale PA, Schteingart MT, et al. (2003). "Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy". Am. J. Ophthalmol. 135 (4): 461–70. doi:10.1016/S0002-9394(02)02032-9. PMID 12654361.
• 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.
• Park M, Li Q, Shcheynikov N, et al. (2004). "NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation". Mol. Cell 16 (3): 331–41. doi:10.1016/j.molcel.2004.09.030. PMID 15525507.
• Jiao X, Sultana A, Garg P, et al. (2007). "Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11". J. Med. Genet. 44 (1): 64–8. doi:10.1136/jmg.2006.044644. PMC 2597914. PMID 16825429.
• Desir J, Moya G, Reish O, et al. (2007). "Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non‐syndromic corneal endothelial dystrophy". J. Med. Genet. 44 (5): 322–6. doi:10.1136/jmg.2006.046904. PMC 2597979. PMID 17220209.
• Kumar A, Bhattacharjee S, Prakash DR, Sadanand CS (2007). "Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11". Mol. Vis. 13: 39–46. PMC 2503190. PMID 17262014.
• Ramprasad VL, Ebenezer ND, Aung T, et al. (2007). "Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online". Hum. Mutat. 28 (5): 522–3. doi:10.1002/humu.9487. PMID 17397048.
• Aldave AJ, Yellore VS, Bourla N, et al. (2007). "Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11". Cornea 26 (7): 896–900. doi:10.1097/ICO.0b013e318074bb01. PMID 17667634.
• Sultana A, Garg P, Ramamurthy B, et al. (2007). "Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy". Mol. Vis. 13: 1327–32. PMID 17679935.