You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
SLC12A6
Solute carrier family 12 member 6

Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000290209
  • ENSP00000290209
  • ENSG00000140199
  • ENST00000354181
  • ENSP00000346112
  • ENST00000397702
  • ENSP00000380814
  • ENST00000397707
  • ENSP00000380819
  • ENST00000458406
  • ENSP00000387725
  • ENST00000558589
  • ENSP00000452776
  • ENST00000558667
  • ENSP00000453473
  • ENST00000560611
  • ENSP00000454168

Symbol
  • KCC3
  • KCC3
  • ACCPN
  • KCC3A
  • KCC3B
Illumination Graph
Knowledge Table
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


Related Tools
RESOLUTE
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.
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

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: 80.4   (req: < 5)
Gene RIFs: 22   (req: <= 3)
Antibodies: 199   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 80.4   (req: >= 5)
Gene RIFs: 22   (req: > 3)
Antibodies: 199   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
1
1
1
50.8
refractive error measurement
1
1
1
40.1
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
1
50.8
refractive error measurement
1
40.1
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
Pathways (8)
Cation-coupled Chloride cotransporters (R-HSA-426117)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 8
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
Protein-Protein Interactions (58)
1 – 10 of 58
LGALS8
Tchem
Novelty: 0.00623836
p_int: 0.999999491
p_ni: 5.08e-7
p_wrong: 1e-9
Data Source: BioPlex
LGALS3
Tchem
Novelty: 0.00032754
p_int: 0.999999147
p_ni: 8.53e-7
Score: 0.297
Data Source: BioPlex,STRINGDB
LGALS9C
Tdark
Novelty: 0.29969898
p_int: 0.999958876
p_ni: 0.000041124
Score: 0.672
Data Source: BioPlex,STRINGDB
PTGIR
Tclin
Family: GPCR
Novelty: 0.0091906
p_int: 0.999958755
p_ni: 0.000041245
Data Source: BioPlex
NRN1
Tbio
Novelty: 0.01198116
p_int: 0.999915482
p_ni: 0.000084518
Score: 0.158
Data Source: BioPlex,STRINGDB
CD79B
Tclin
Novelty: 0.00227414
p_int: 0.999888941
p_ni: 0.000110315
p_wrong: 7.44e-7
Data Source: BioPlex
LGALS9
Tchem
Novelty: 0.00381766
p_int: 0.999812164
p_ni: 0.000187835
p_wrong: 1e-9
Score: 0.515
Data Source: BioPlex,STRINGDB
FAM189A2
Tdark
Novelty: 0.41335428
p_int: 0.99906568
p_ni: 0.000933294
p_wrong: 0.000001027
Data Source: BioPlex
NMUR2
Tchem
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
Tdark
Family: oGPCR
Novelty: 2.23425255
p_int: 0.995678789
p_ni: 0.004299787
p_wrong: 0.000021424
Data Source: BioPlex
Publication Statistics
PubMed Score  80.40

PubMed score by year
PubTator Score  40.33

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
Find similar targets by: