SLC4A3 (solute carrier family 4 member 3)

2014-11-01  

Identity

HGNC
LOCATION
2q35
LOCUSID
ALIAS
AE3,CAE3/BAE3,SLC2C
FUSION GENES

Other Information

Locus ID:

NCBI: 6508
MIM: 106195
HGNC: 11029
Ensembl: ENSG00000114923

Variants:

dbSNP: 6508
ClinVar: 6508
TCGA: ENSG00000114923
COSMIC: SLC4A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114923ENST00000273063P48751
ENSG00000114923ENST00000317151P48751
ENSG00000114923ENST00000358055P48751
ENSG00000114923ENST00000373760P48751
ENSG00000114923ENST00000413743E9PCP1
ENSG00000114923ENST00000416910H7C1Z2
ENSG00000114923ENST00000425141F8WD49
ENSG00000114923ENST00000444906H7C160

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Bicarbonate transportersREACTOMER-HSA-425381

References

Pubmed IDYearTitleCitations
196057332009Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.14
291674172017Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.11
198540142010Genetic susceptibility to febrile seizures: case-control association studies.4
272117932016Investigation of SLA4A3 as a candidate gene for human retinal disease.0

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