Identity
HGNC
LOCATION
15q14
LOCUSID
ALIAS
ACCPN,KCC3,KCC3A,KCC3B
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: 9990
MIM: 604878
HGNC: 10914
Ensembl: ENSG00000140199
Variants:
dbSNP: 9990
ClinVar: 9990
TCGA: ENSG00000140199
COSMIC: SLC12A6
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36542484 | 2023 | Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype. | 0 |
| 36542484 | 2023 | Late-onset sensory-motor axonal neuropathy, a novel SLC12A6-related phenotype. | 0 |
| 35733399 | 2022 | Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. | 0 |
| 35733399 | 2022 | Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. | 0 |
| 33465674 | 2021 | ZnR/GPR39 controls cell migration by orchestrating recruitment of KCC3 into protrusions, re-organization of actin and activation of MMP. | 4 |
| 33465674 | 2021 | ZnR/GPR39 controls cell migration by orchestrating recruitment of KCC3 into protrusions, re-organization of actin and activation of MMP. | 4 |
| 31439721 | 2020 | De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. | 7 |
| 31439721 | 2020 | De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy. | 7 |
| 30868738 | 2019 | First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. | 2 |
| 31393094 | 2019 | SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. | 14 |
| 30868738 | 2019 | First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene. | 2 |
| 31393094 | 2019 | SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus. | 14 |
| 30038111 | 2018 | Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family. | 3 |
| 30038111 | 2018 | Identification of a novel SLC12A6 pathogenic variant associated with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) in a non-French-Canadian family. | 3 |
| 27230413 | 2016 | KCC3 axonopathy: neuropathological features in the central and peripheral nervous system. | 7 |
Citation
Dessen P
SLC12A6 (solute carrier family 12 member 6)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43655/slc12a6
