| Common Name: | AE3 |
| HGNC Symbol: | SLC4A3 |
| HGNC Description: | solute carrier family 4, anion exchanger, member 3 |
| HGNC ID: | 11029 |
| Chromosome: | Chr.2(+): 220200536-220214946 |
| Location: | 2q36 |
| OMIM: | 106195 |
| OMIM Phenotype: | None |
| Accessions: | U05596 |
| Nucleotide RefSeq: | NM_005070 |
| Protein RefSeq: | NP_00506 |
| Entrez: | 6508 |
| Isoforms: | 2 |
| Evidence: | Substrate In Vitro Evidence: Anions (Cl-/HCO3-) exchanger (COS cells transfected with AE3, xenopus oocytes) Kopito, R. R.; Lee, B. S.; Simmons, D. M.; Lindsey, A. E.; Morgans, C. W.; Schneider, K. Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger. Cell 59: 927-937, 1989. Yannoukakos,D., Stuart-Tilley,A., Fernandez,H.A., Fey,P., Duyk,G. and Alper,S.L. Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart. Circ. Res. 75, 603-614 (1994) Substrate In Vivo Evidence: AE3 may play a role in the regulation of intracellular pH (pH(i)) in the central nerve system (CNS). Xue J, Douglas RM, Zhou D, Lim JY, Boron WF, Haddad GG. Expression of Na+/H+ and HCO3- -dependent transporters in Na+/H+ exchanger isoform 1 null mutant mouse brain. Neuroscience 122:37-46, 2003. Variation of the AE3 gene confers a common but small susceptibility effect to the etiology of a broad spectrum of IGE syndromes. Sander T, Toliat MR, Heils A, Leschik G, Becker C, Ruschendorf F, Rohde K, Mundlos S, Nurnberg P. Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Res 51:249-55, 2002. Tissue Distribution Evidence: SLC4A3 is expressed primarily in brain neurons and in heart. (Northern blotting) Kopito, R. R.; Lee, B. S.; Simmons, D. M.; Lindsey, A. E.; Morgans, C. W.; Schneider, K. Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger. Cell 59: 927-937, 1989. |
| Tissues: | primarily in brain neurons and in heart |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA35897 |
| HPRD ID: | 00109 |
| Substrates: | Anions (Cl-/HCO3-) |
| Trivial Names: | AE3, SLC2C |
| Transcripts: | NM_005070 [Chr.2(+): 220200536-220214946] NM_201574 [Chr.2(+): 220200536-220214946] |
View on UCSC Genome Browser or Ensembl Genome Browser
Transmembrane prediction: TOPO2 image is not available.