SLC4A11

SLC4A11
Identifiers
Aliases	SLC4A11, BTR1, CDPD1, CHED2, NABC1, dJ794I6.2, CHED, solute carrier family 4 member 11
External IDs	MGI: 2138987 HomoloGene: 12931 GeneCards: SLC4A11
Gene ontology Molecular function • hydrogen ion channel activity • protein dimerization activity • transporter activity • sodium channel activity • anion:anion antiporter activity • bicarbonate transmembrane transporter activity • borate transmembrane transporter activity • inorganic anion exchanger activity • symporter activity Cellular component • integral component of membrane • membrane • plasma membrane • basolateral plasma membrane • integral component of plasma membrane Biological process • ion homeostasis • sodium ion transport • cellular cation homeostasis • ion transport • anion transport • proton transport • fluid transport • bicarbonate transport • anion transmembrane transport • transmembrane transport • transport • borate transport • sodium ion transmembrane transport • borate transmembrane 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_001174090 NM_032034	NM_001081162
RefSeq (protein)	NP_001167560.1 NP_001167561.1 NP_114423.1	NP_001074631.1
Location (UCSC)	Chr 20: 3.23 – 3.24 Mb	Chr 2: 130.68 – 130.7 Mb
PubMed search	[1]	[2]
Wikidata

View/Edit Human

View/Edit Mouse

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.^[3][4][5][6]

See also

• Solute carrier family
• Congenital endothelial dystrophy type 2

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. 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.
4. 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.
5. 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.
6. "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.