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: 6539
MIM: 603080
HGNC: 11045
Ensembl: ENSG00000111181
Variants:
dbSNP: 6539
ClinVar: 6539
TCGA: ENSG00000111181
COSMIC: SLC6A12
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PD | 20597903 | |
| PA448497 | aspirin | Chemical | ClinicalAnnotation | associated | PD | 20597903 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32114438 | 2020 | Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview. | 0 |
| 32114438 | 2020 | Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview. | 0 |
| 31108110 | 2019 | Structural and molecular aspects of betaine-GABA transporter 1 (BGT1) and its relation to brain function. | 13 |
| 31108110 | 2019 | Structural and molecular aspects of betaine-GABA transporter 1 (BGT1) and its relation to brain function. | 13 |
| 26690518 | 2015 | Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy. | 2 |
| 26690518 | 2015 | Combined effect between two functional polymorphisms of SLC6A12 gene is associated with temporal lobe epilepsy. | 2 |
| 24829506 | 2014 | Mutation of a single threonine in the cytoplasmic NH2 terminus disrupts trafficking of renal betaine-GABA transporter 1 during hypertonic stress. | 1 |
| 24829506 | 2014 | Mutation of a single threonine in the cytoplasmic NH2 terminus disrupts trafficking of renal betaine-GABA transporter 1 during hypertonic stress. | 1 |
| 22405821 | 2012 | Up-regulation of the betaine/GABA transporter BGT1 by JAK2. | 0 |
| 22405821 | 2012 | Up-regulation of the betaine/GABA transporter BGT1 by JAK2. | 0 |
| 21367462 | 2011 | Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population. | 6 |
| 21367462 | 2011 | Association between the SLC6A12 gene and negative symptoms of schizophrenia in a Korean population. | 6 |
| 20424473 | 2010 | L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. | 0 |
| 20597903 | 2010 | Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population. | 11 |
| 20597903 | 2010 | Association of SLC6A12 variants with aspirin-intolerant asthma in a Korean population. | 11 |
Citation
Dessen P
SLC6A12 (solute carrier family 6 member 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73469/slc6a12-(solute-carrier-family-6-member-12)
