Identity
HGNC
LOCATION
5q23.3
LOCUSID
ALIAS
BSC,BSC2,KILQS,NKCC1,PPP1R141
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: 6558
MIM: 600840
HGNC: 10911
Ensembl: ENSG00000064651
Variants:
dbSNP: 6558
ClinVar: 6558
TCGA: ENSG00000064651
COSMIC: SLC12A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38396064 | 2024 | Comprehensive analyses of solute carrier family members identify SLC12A2 as a novel therapy target for colorectal cancer. | 0 |
| 38396064 | 2024 | Comprehensive analyses of solute carrier family members identify SLC12A2 as a novel therapy target for colorectal cancer. | 0 |
| 34374074 | 2022 | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | 4 |
| 35624355 | 2022 | NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study. | 0 |
| 35968893 | 2022 | Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression. | 2 |
| 36239040 | 2022 | Cryo-EM structure of the human NKCC1 transporter reveals mechanisms of ion coupling and specificity. | 11 |
| 36323541 | 2022 | [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type Ⅱ]. | 0 |
| 34374074 | 2022 | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | 4 |
| 35624355 | 2022 | NKCC1 to KCC2 mRNA Ratio in Schizophrenia and Its Psychopathology: a Case-Control Study. | 0 |
| 35968893 | 2022 | Loss of NKCC1 function increases epithelial tight junction permeability by upregulating claudin-2 expression. | 2 |
| 36239040 | 2022 | Cryo-EM structure of the human NKCC1 transporter reveals mechanisms of ion coupling and specificity. | 11 |
| 36323541 | 2022 | [Expression of cation chloride cotransporter (NKCC1/KCC2) in brain tissue of children with focal cortical dysplasia type Ⅱ]. | 0 |
| 33345190 | 2021 | NKCC1: Newly Found as a Human Disease-Causing Ion Transporter. | 26 |
| 33500540 | 2021 | Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease. | 3 |
| 33597714 | 2021 | The structural basis of function and regulation of neuronal cotransporters NKCC1 and KCC2. | 40 |
Citation
Dessen P
SLC12A2 (solute carrier family 12 member 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46190/slc12a2
