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SLC4A11
Identifiers
Aliases	SLC4A11, BTR1, CDPD1, CHED2, NABC1, dJ794I6.2, CHED, solute carrier family 4 member 11
External IDs	OMIM: 610206; MGI: 2138987; HomoloGene: 12931; GeneCards: SLC4A11; OMA:SLC4A11 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20p13 Start 3,227,417 bp End 3,239,559 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F1 Start 130,526,033 bp End 130,539,439 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in nasal epithelium olfactory zone of nasal mucosa left lobe of thyroid gland pancreatic ductal cell parotid gland minor salivary glands right lobe of thyroid gland gingival epithelium mucosa of paranasal sinus bronchial epithelial cell Top expressed in vestibular membrane of cochlear duct lumbar spinal ganglion inner renal medulla morula gastrula blastocyst outer renal medulla cochlea iris olfactory epithelium More reference expression data BioGPS n/a
Gene ontology Molecular function proton channel activity protein dimerization activity sodium channel activity bicarbonate transmembrane transporter activity active 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 fluid transport bicarbonate transport anion transmembrane transport borate transport sodium ion transmembrane transport borate transmembrane transport regulation of intracellular pH proton transmembrane transport 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_001363745 NM_001400277 NM_001400278 NM_001400279 NM_001400280 NM_001081162 RefSeq (protein) NP_001167560 NP_001167561 NP_114423 NP_001350674 NP_001074631 Location (UCSC) Chr 20: 3.23 – 3.24 Mb Chr 2: 130.53 – 130.54 Mb PubMed search
Wikidata
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Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

See also

• Solute carrier family
• Congenital endothelial dystrophy type 2

References

1. ^ GRCh38: Ensembl release 89: ENSG00000088836 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000074796 – 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. 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.
6. 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.
7. 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. S2CID 11112294.
8. "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. 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.
• 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. CiteSeerX 10.1.1.582.4887. 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. S2CID 2980020.
• 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. S2CID 20814910.
• 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.

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