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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

HCOP human homology predictions: SLC12A6
Gene Tree: Slc12a6

Human
homologs
SLC12A6, solute carrier family 12 (potassium/chloride transporter), member 6
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 9990
neXtProt AC: NX_Q9UHW9

Human Synonyms: ACCPN, KCC3, KCC3A, KCC3B

Human Chr (Location): 15q13; chr15:34229996-34338064 (-)  GRCh38.p2

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)    Phenotype Images(3)
Interactions
Slc12a6 interacts with 384 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (7 records)
Data Summary: Results (18)    Tissues (3)    Images (12)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 18
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase slc12a6    NEW 
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 TC1603477, TC1597238, TC1582505, TC1610056
Consensus CDS Project CCDS16551.1, CCDS16552.1
International Mouse Phenotyping Consortium Status Slc12a6
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(50)
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
06/23/2015
MGI 5.22
The Jackson Laboratory