UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:AE2
HGNC Symbol:SLC4A2
HGNC Description:solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)
HGNC ID:11028
Chromosome:Chr.7(+): 150387590-150404547
Location:7q35-q36
OMIM:109280
OMIM Phenotype:None
Accessions:U62531
Nucleotide RefSeq:NM_003040
Protein RefSeq:NP_003031
Entrez:6522
Isoforms:1
Evidence:Substrate In Vitro Evidence: Anions (Cl-/HCO3-) exchanger, Sulfate (Xenopus oocytes, reconstituted proteoliposomes) Guizouarn H, Musch MW, Goldstein L. Evidence for the presence of three different anion exchangers in a red cell. Functional expression studies in Xenopus oocytes. J Membr Biol 193:109-20, 2003. Sekler I, Lo RS, Mastrocola T, Kopito RR. Sulfate transport mediated by the mammalian anion exchangers in reconstituted proteoliposomes. J Biol Chem 270:11251-6, 1995. Substrate In Vivo Evidence: SLC4A2 may have an essential role in spermiogenesis. (knock out mice) Medina JF, Recalde S, Prieto J, Lecanda J, Saez E, Funk CD, Vecino P, van Roon MA, Ottenhoff R, Bosma PJ, Bakker CT, Elferink RP. Anion exchanger 2 is essential for spermiogenesis in mice. Proc Natl Acad Sci U S A 100:15847-52, 2003 Tissue Distribution Evidence: Northern blotting studies showed that the human AE2 gene is transcribed in a wide variety of tissues. Tanner, M. J. A. Molecular and cellular biology of the erythrocyte anion exchanger (AE1). Seminars Hemat. 30: 34-57, 1993. In the rat, AE2 is particularly abundant in the stomach and portions of the gastrointestinal tract. (Northern blotting) Kudrycki, K. E.; Newman, P. R.; Schull, G. E. cDNA cloning and tissue distribution of mRNAs for two proteins that are related to the band 3 chloride-bicarbonate exchanger. J. Biol. Chem. 265: 462-471, 1990.
Tissues:in a wide variety of tissues
Type:protein coding
Sets:0
PharmGKB ID:PA35896
HPRD ID:02728
Substrates:Anions (Cl-/HCO3-) exchanger, Sulfate
Trivial Names:AE2, HKB3, BND3L, NBND3, EPB3L1
Transcripts:NM_003040 [Chr.7(+): 150387590-150404547]

Transmembrane prediction: TOPO2 image is not available.