SLC4A3 (solute carrier family 4 member 3)

2014-11-01  

Identity

HGNC
SLC4A3
LOCATION
2q35
LOCUSID
6508
ALIAS
AE3,CAE3/BAE3,SLC2C
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
368065742023Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.5
368065742023Genetic analysis identifies the SLC4A3 anion exchanger as a major gene for short QT syndrome.5
291674172017Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.37
291674172017Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.37
272117932016Investigation of SLA4A3 as a candidate gene for human retinal disease.2
272117932016Investigation of SLA4A3 as a candidate gene for human retinal disease.2
198540142010Genetic susceptibility to febrile seizures: case-control association studies.7
198540142010Genetic susceptibility to febrile seizures: case-control association studies.7
196057332009Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.16
196057332009Characterization 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/tumors-explorer/favicon/css/teaching-explorer/