UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:AE3
HGNC Symbol:SLC4A3
HGNC Description:solute carrier family 4 (anion exchanger), member 3
HGNC ID:11029
Superfamily:SLC
Chromosome:Chr.2(+): 220492292-220506702 GRCh37
Location:2q36
OMIM:106195
OMIM Phenotype:None
Accessions:U05596
Nucleotide RefSeq:NM_005070
Protein RefSeq:NP_00506
Entrez:6508
Ensembl:ENSG00000114923
Isoforms:5
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_005070.3 [Chr.2(+): 220492292-220506702 GRCh37]
NM_201574.2 [Chr.2(+): 220492292-220506702 GRCh37]
XM_005246789.1 [Chr.2(+): 220492352-220506693 GRCh37]
XM_005246791.1 [Chr.2(+): 220492352-220506693 GRCh37]
XM_005246790.1 [Chr.2(+): 220495801-220506693 GRCh37]
ENST00000273063 [Chr.2(+): 220492287-220506702 GRCh37]
ENST00000317151 [Chr.2(+): 220492383-220506702 GRCh37]
ENST00000358055 [Chr.2(+): 220492049-220506693 GRCh37]
ENST00000373760 [Chr.2(+): 220492116-220506693 GRCh37]
ENST00000373762 [Chr.2(+): 220492292-220506701 GRCh37]
ENST00000413743 [Chr.2(+): 220495852-220497731 GRCh37]
ENST00000416910 [Chr.2(+): 220496781-220502517 GRCh37]
ENST00000425141 [Chr.2(+): 220492349-220506450 GRCh37]
ENST00000444906 [Chr.2(+): 220498068-220500503 GRCh37]
ENST00000497589 [Chr.2(+): 220493238-220497140 GRCh37]
Annotation History:View Events (28)

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 SLC4A3.

Variant Data

View all PMT variants for SLC4A3 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.