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

• Q9UHW9
• A0AV76
• Q2VI00
• Q7Z2E7
• Q7Z4G5
• Q8TDD4
• Q9UFR2
• Q9Y642
• Q9Y665

Gene Name

• SLC12A6

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

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

Protein Classes

DTO Classes

Protein / Transporter / Slc Superfamily Of Solute Carriers / Slc12 Family Of Cation-coupled Chloride Transporters / Solute Carrier Family 12 Member 6

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: 82.95   (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: 82.95   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

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.

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Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (58)

Explore Interacting Targets

1 – 10 of 58

• See Interactions on String-DB

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

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (8)

Reactome (8)

Cation-coupled Chloride cotransporters (R-HSA-426117)

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Items per page:

5

1 – 5 of 8

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Cation-coupled Chloride cotransporters	7 targets	R-HSA-426117
Reactome	Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	1 targets	R-HSA-5619039
Reactome	Disease	1105 targets	R-HSA-1643685
Reactome	Disorders of transmembrane transporters	178 targets	R-HSA-5619115
Reactome	SLC transporter disorders	100 targets	R-HSA-5619102

Name	Explore in Pharos	Explore in Source
Cation-coupled Chloride cotransporters	7 targets	R-HSA-426117
Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN)	1 targets	R-HSA-5619039
Disease	1105 targets	R-HSA-1643685
Disorders of transmembrane transporters	178 targets	R-HSA-5619115
SLC transporter disorders	100 targets	R-HSA-5619102

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (17)

Functions (3)

Components (4)

Processes (10)

Find Similar Targets

Items per page:

10

1 – 3 of 3

GO Term	Evidence	Assigned by
potassium ion transmembrane transporter activity	Inferred from Direct Assay (IDA)	ParkinsonsUK-UCL
potassium:chloride symporter activity	Inferred from Direct Assay (IDA)	UniProtKB
protein kinase binding	Inferred from Physical Interaction (IPI)	ParkinsonsUK-UCL

Disease Associations ()

No disease associations found

GWAS Traits (5)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 5

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean platelet volume	EFO_0004584	1	1	1		49.5
refractive error measurement	EFO_0007814	1	2	2		43.9
self reported educational attainment	EFO_0004784	2	1	2		12.9
intelligence	EFO_0004337	1	1	1		9.5
schizophrenia	EFO_0000692	1	1	1		9.5

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 5

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mean platelet volume	EFO_0004584	1		49.5
refractive error measurement	EFO_0007814	2		43.9
self reported educational attainment	EFO_0004784	2		12.9
intelligence	EFO_0004337	1		9.5
schizophrenia	EFO_0000692	1		9.5

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative promoter usage
Alternative splicing
Cell membrane
Chloride
Complete proteome
Glycoprotein
Ion transport
Membrane
Neuropathy
Phosphoprotein

GWAS Trait Find Similar Targets

No Header	No Header
intelligence
mean platelet volume
refractive error measurement
schizophrenia
self reported educational attainment

MGI Phenotype Find Similar Targets

No Header	No Header
behavior/neurological phenotype
cardiovascular system phenotype
cellular phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
integument phenotype
muscle phenotype
nervous system phenotype
reproductive system phenotype
skeleton phenotype

IDG Resources

No IDG generated resources found

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	solute carrier family 12, member 6	MGI:2135960	107723
Rat	solute carrier family 12, member 6	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	solute carrier family 12, member 6
Rat	solute carrier family 12, member 6
Dog	solute carrier family 12 member 6

Publication Statistics

PubMed Score 82.95

PubMed score by year

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PubTator Score 40.33

PubTator score by year

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Related Publications

Text Mined References (34)

GeneRif Annotations (22)

Items per page:

10

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PMID	Year	Title