UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:AE2
HGNC Symbol:SLC4A2
HGNC Description:solute carrier family 4 (anion exchanger), member 2
HGNC ID:11028
Superfamily:SLC
Chromosome:Chr.7(+): 150755299-150773614 GRCh37
Location:7q36.1
OMIM:109280
OMIM Phenotype:None
Accessions:U62531
Nucleotide RefSeq:NM_003040
Protein RefSeq:NP_003031
Entrez:6522
Ensembl:ENSG00000164889
Isoforms:6
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_003040.3 [Chr.7(+): 150756657-150773614 GRCh37]
NM_001199692.1 [Chr.7(+): 150755299-150773614 GRCh37]
NM_001199693.1 [Chr.7(+): 150759634-150773614 GRCh37]
NM_001199694.1 [Chr.7(+): 150759739-150773614 GRCh37]
XM_005250042.1 [Chr.7(+): 150756676-150773614 GRCh37]
XM_005250041.1 [Chr.7(+): 150758331-150773614 GRCh37]
ENST00000310317 [Chr.7(+): 150758338-150773609 GRCh37]
ENST00000392826 [Chr.7(+): 150759634-150773609 GRCh37]
ENST00000413384 [Chr.7(+): 150756657-150773614 GRCh37]
ENST00000460010 [Chr.7(+): 150768752-150771204 GRCh37]
ENST00000461735 [Chr.7(+): 150759721-150773610 GRCh37]
ENST00000463414 [Chr.7(+): 150758331-150761847 GRCh37]
ENST00000466368 [Chr.7(+): 150755287-150759047 GRCh37]
ENST00000469355 [Chr.7(+): 150767441-150768219 GRCh37]
ENST00000469467 [Chr.7(+): 150773070-150773611 GRCh37]
ENST00000472204 [Chr.7(+): 150769091-150772399 GRCh37]
ENST00000480107 [Chr.7(+): 150767804-150768688 GRCh37]
ENST00000482697 [Chr.7(+): 150768816-150771172 GRCh37]
ENST00000482950 [Chr.7(+): 150758304-150761778 GRCh37]
ENST00000483786 [Chr.7(+): 150754297-150761831 GRCh37]
ENST00000485713 [Chr.7(+): 150755299-150773613 GRCh37]
ENST00000488420 [Chr.7(+): 150758676-150761448 GRCh37]
ENST00000490898 [Chr.7(+): 150757157-150761982 GRCh37]
ENST00000493040 [Chr.7(+): 150768564-150769223 GRCh37]
ENST00000494125 [Chr.7(+): 150756678-150761784 GRCh37]
ENST00000494298 [Chr.7(+): 150767604-150768254 GRCh37]
Annotation History:View Events (22)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC4A2.

Variant Data

View all PMT variants for SLC4A2 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction: TOPO2 image is not available.