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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Slc12a6 ± 2 cM)

Gene Tree: Slc12a6

Human ortholog

SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6 NCBI Gene ID 9990
Human Synonyms: ACCPN, KCC3, KCC3A, KCC3B
Human Chr15:34522197-34630265 bp, - strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human SLC12A6 (1)

Alleles and phenotypes

All alleles(12) : Targeted(9) Gene trapped(2) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	cellular hypotonic salinity response, chloride transport, ...
Component	axon, basolateral plasma membrane
Function	potassium:chloride symporter activity, protein binding

External Resources: FuncBase

Expression

Literature Summary: (7 records)
Data Summary: Results (18)    Tissues (3)    Images (12)
Theiler Stages: 23

Assay Type	Results
RNA in situ	18

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

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, TC1603477, TC1610056
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(46) RefSeq(4)

Polymorphisms

SNPs(250 from dbSNP Build 128)

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:183239 Shekarabi M, et al., Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum. J Neurosci. 2012 Mar 14;32(11):3865-76
All references(50)

Other accession IDs

MGI:2447470