Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
AE3,CAE3/BAE3,SLC2C
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6508
MIM: 106195
HGNC: 11029
Ensembl: ENSG00000114923
Variants:
dbSNP: 6508
ClinVar: 6508
TCGA: ENSG00000114923
COSMIC: SLC4A3
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36806574 | 2023 | Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome. | 5 |
| 36806574 | 2023 | Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome. | 5 |
| 29167417 | 2017 | Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. | 37 |
| 29167417 | 2017 | Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. | 37 |
| 27211793 | 2016 | Investigation of SLA4A3 as a candidate gene for human retinal disease. | 2 |
| 27211793 | 2016 | Investigation of SLA4A3 as a candidate gene for human retinal disease. | 2 |
| 19854014 | 2010 | Genetic susceptibility to febrile seizures: case-control association studies. | 7 |
| 19854014 | 2010 | Genetic susceptibility to febrile seizures: case-control association studies. | 7 |
| 19605733 | 2009 | Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3. | 16 |
| 19605733 | 2009 | Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3. | 16 |
Citation
Dessen P
SLC4A3 (solute carrier family 4 member 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73453/slc4a3-(solute-carrier-family-4-member-3)
