SLC12A6
Solute carrier family 12 member 6
Protein Summary
Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]
- ENST00000290209
- ENSP00000290209
- ENSG00000140199
- ENST00000354181
- ENSP00000346112
- ENST00000397702
- ENSP00000380814
- ENST00000397707
- ENSP00000380819
- ENST00000458406
- ENSP00000387725
- ENST00000558589
- ENSP00000452776
- ENST00000558667
- ENSP00000453473
- ENST00000560611
- ENSP00000454168
- KCC3
- KCC3
- ACCPN
- KCC3A
- KCC3B
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
transcription factor binding site profile | 0.76 | ||
protein domain | 0.73 | ||
tissue sample | 0.72 | ||
kinase perturbation | 0.71 | ||
transcription factor | 0.71 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 96.41 (req: < 5)
Gene RIFs: 22 (req: <= 3)
Antibodies: 199 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 96.41 (req: >= 5)
Gene RIFs: 22 (req: > 3)
Antibodies: 199 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 13
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (5)
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (58)
LGALS3
Novelty: 0.00032754
p_int: 0.999999147
p_ni: 8.53e-7
Score: 0.297
Data Source: BioPlex,STRINGDB
LGALS9C
Novelty: 0.29969898
p_int: 0.999958876
p_ni: 0.000041124
Score: 0.672
Data Source: BioPlex,STRINGDB
NRN1
Novelty: 0.01198116
p_int: 0.999915482
p_ni: 0.000084518
Score: 0.158
Data Source: BioPlex,STRINGDB
CD79B
Novelty: 0.00227414
p_int: 0.999888941
p_ni: 0.000110315
p_wrong: 7.44e-7
Data Source: BioPlex
LGALS9
Novelty: 0.00381766
p_int: 0.999812164
p_ni: 0.000187835
p_wrong: 1e-9
Score: 0.515
Data Source: BioPlex,STRINGDB
FAM189A2
Novelty: 0.41335428
p_int: 0.99906568
p_ni: 0.000933294
p_wrong: 0.000001027
Data Source: BioPlex
NMUR2
Family: GPCR
Novelty: 0.01353039
p_int: 0.998128073
p_ni: 0.001871924
p_wrong: 3e-9
Score: 0.154
Data Source: BioPlex,STRINGDB
OR10S1
Family: oGPCR
Novelty: 2.23425255
p_int: 0.995678789
p_ni: 0.004299787
p_wrong: 0.000021424
Data Source: BioPlex
Nearest Tclin Targets
Pathways (8)
Reactome (8)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Cation-coupled Chloride cotransporters | ||||
Reactome | Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) | ||||
Reactome | Disease | ||||
Reactome | Disorders of transmembrane transporters | ||||
Reactome | SLC transporter disorders | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Cation-coupled Chloride cotransporters | ||||
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) | ||||
Disease | ||||
Disorders of transmembrane transporters | ||||
SLC transporter disorders | ||||
Viral Interactions (0)
Gene Ontology Terms (17)
Functions (3)
Components (4)
Processes (10)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | ParkinsonsUK-UCL | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Physical Interaction (IPI) | ParkinsonsUK-UCL | |||
Disease Associations (null)
GWAS Traits (6)
Items per page:
1 – 5 of 6
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
educational attainment | 1 | 1 | 1 | 43.2 | |||||
mean platelet volume | 1 | 1 | 1 | 38.8 | |||||
refractive error | 1 | 2 | 2 | 33.7 | |||||
self reported educational attainment | 2 | 1 | 2 | 20.4 | |||||
schizophrenia | 1 | 1 | 1 | 12.8 | |||||
Items per page:
1 – 5 of 6
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
educational attainment | 1 | 43.2 | |||||
mean platelet volume | 1 | 38.8 | |||||
refractive error | 2 | 33.7 | |||||
self reported educational attainment | 2 | 20.4 | |||||
schizophrenia | 1 | 12.8 | |||||
Find similar targets by:
IDG Resources
Orthologs (10)
1 – 5 of 10
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | solute carrier family 12 member 6 | VGNC:7778 | 750207 | |||||
Macaque | solute carrier family 12 member 6 | 697536 | ||||||
Mouse | MGI:2135960 | 107723 | ||||||
Rat | RGD:1311335 | 691209 | ||||||
Dog | solute carrier family 12 member 6 | VGNC:46223 | 478239 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | solute carrier family 12 member 6 | |||||
Macaque | solute carrier family 12 member 6 | |||||
Mouse | ||||||
Rat | ||||||
Dog | solute carrier family 12 member 6 | |||||
Publication Statistics
PubMed Score 96.41
PubMed score by year
PubTator Score 40.33
PubTator score by year
Related Publications
Text Mined References (34)
GeneRif Annotations (22)
Items per page:
0 of 0
PMID | Year | Title |
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