Slc12a6
Gene Detail

Symbol

Name
ID

Slc12a6
solute carrier family 12, member 6
MGI:2135960

Synonyms

gaxp, KCC3

Feature Type

protein coding gene

Genetic Map

Chromosome 2
56.99 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr2:112265825-112363163 bp, + strand From VEGA annotation of GRCm38   97339 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate
homology

HomoloGene:21069  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

Gene Tree: Slc12a6

Human
homologs

Human Homolog		SLC12A6, solute carrier family 12 (potassium/chloride transporter), member 6
NCBI Gene ID		9990
neXtProt AC		NX_Q9UHW9
Human Synonyms		ACCPN, KCC3, KCC3A, KCC3B
Human Chr (Location)		15q13; chr15:34229996-34338064 (-)  GRCh38
Disease Associations		(1) Diseases Associated with Human SLC12A6

Mutations,
alleles, and
phenotypes

All mutations/alleles(12) : Gene trapped(2) Spontaneous(1) Targeted(9)
Incidental mutations (data from APF )
 

Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.

 
Human Diseases Modeled in Mice Using Slc12a6 (1)    Mutations Annotated to Human Diseases (3)   

Interactions

Slc12a6 interacts with 385 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)

View All

Gene Ontology
(GO)
classifications

All GO classifications: (13 annotations)

Process	cellular hypotonic response, cellular hypotonic salinity response, ...
Component	axon, basolateral plasma membrane
Function	potassium:chloride symporter activity, potassium ion transmembrane transporter activity, ...

External Resources: FuncBase

Expression

Literature Summary: (7 records)

Data Summary: Results (18)    Tissues (3)    Images (12)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	18

cDNA source data(9)
External Resources: Allen Institute   GEO   Expression Atlas

Molecular
reagents

All nucleic(10) cDNA(9) Primer pair(1)
Microarray probesets(6)

Other database
links

VEGA Gene Model	OTTMUSG00000015141 (Evidence)
Ensembl Gene Model	ENSMUSG00000027130 (Evidence)
Entrez Gene	107723 (Evidence)
DFCI	TC1582505, TC1597238, TC1610056, TC1603477
Consensus CDS Project	CCDS16551.1, CCDS16552.1
International Mouse Knockout Project Status	Slc12a6

Sequences

Length	Strain/Species
genomic	OTTMUSG00000015141	VEGA Gene Model | MGI Sequence Detail	97339	C57BL/6J
transcript	OTTMUST00000035915	VEGA | MGI Sequence Detail	6105	Not Applicable
polypeptide	OTTMUSP00000016121	VEGA | MGI Sequence Detail	1150	Not Applicable

All sequences(50) RefSeq(8)

Polymorphisms

SNPs within 2kb(317 from dbSNP Build 137)    SNPs within 2kb including multiple locations(319)

Protein-related
information

Resource	ID	Description
Protein Ontology	PR:000014929	solute carrier family 12 member 6

References

(Earliest) J:69625 Hubner CA, et al., Disruption of KCC2 Reveals an Essential Role of K-Cl Cotransport Already in Early Synaptic Inhibition. Neuron. 2001 May;30(2):515-24
(Latest) J:200577 Ding J, et al., A trafficking-deficient mutant of KCC3 reveals dominant-negative effects on K-Cl cotransport function. PLoS One. 2013;8(4):e61112
All references(52)
Disease annotation references (3)

Other
accession IDs

MGI:2447470