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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 Using Mouse Slc12a6 (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Slc12a6 interacts with 385 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (15 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)
Theiler Stages: 23
Assay TypeResults
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 ModelOTTMUSG00000015141 (Evidence)
Ensembl Gene ModelENSMUSG00000027130 (Evidence)
Entrez Gene107723 (Evidence)
DFCITC1582505, TC1597238, TC1603477, TC1610056
Consensus CDS ProjectCCDS16551.1, CCDS16552.1
International Mouse Knockout Project StatusSlc12a6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015141 VEGA Gene Model | MGI Sequence Detail 97339 C57BL/6J ±  kb
transcript OTTMUST00000035915 VEGA | MGI Sequence Detail 6105 Not Applicable 
polypeptide OTTMUSP00000016121 VEGA | MGI Sequence Detail 1150 Not Applicable 

For the selected sequences
All sequences(50) RefSeq(8)
Polymorphisms SNPs within 2kb(317 from dbSNP Build 137)    SNPs within 2kb including multiple locations(319)
Protein-related
information
ResourceIDDescription
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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory