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Summary Expression Gene Literature (16) GO Terms (18) Nucleotides (163) Proteins (36) Interactants (43) Wiki
XB-GENEPAGE-960698
Gene Symbol:
slc12a6

Gene Name:
solute carrier family 12 member 6

Synonyms:
kcc3 , accpn , kcc3a , kcc3b ( Add synonyms , Nomenclature history )

Gene Function:
transmembrane solute exchange

Protein Function :


InterPro :
KCC3 , KCL cotranspt , SLC12A fam , AA-permease/SLC12A dom [+]

Interactants:
Loading ...

Diseases: 


Disease Ontology:
hereditary motor and sensory neuropathy with agenesis of the corpus callosum [+]

OMIM:
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN

External Links:
 
Xenbase Gene ID XB-GENE-960699 XB-GENE-960705 XB-GENE-17337262
Gene Symbol slc12a6 slc12a6.L slc12a6.S
Chromosome Chr1 Scaffold3255
Molecules X. tropicalis X. laevis.L X. laevis.S
Genomic Sequence Version 10.0 Version 6.0
CDS Gene model
Entrez Gene 780031
779012
mRNA RefSeq
Protein NCBI Protein RefSeq  More..
Genomic
 X. tropicalis X. laevis.L X. laevis.S
Genome Browser
(Click image to open in Genome Browser)
Genomic Synteny Genomicus PANTHER
Expression                  Development Stages    Embryonic TissuesAdult Tissues
Summary for
More Information
Xenbase Expression Details In situ images Single cell data at SPRING Ensembl In situ: Single cell: RNA-Seq:
Data Mining X. tropicalis X. laevis.L X. laevis.S
XenMine slc12a6 slc12a6.L slc12a6.S
Orthology
Knowledgebases Entrez Gene Genetic Phenotypes Gene Expression
human
HGNC, AGR, Monarch, OMIM, GeneCards SLC12A6 OMIM Ensembl, Allen Brain Atlas, Protein Atlas
mouse
MGI, AGR Slc12a6 MGI, IMPC Ensembl, Allen Brain Atlas, Eurexpress, MGI
rat
RGD, AGR Slc12a6 Ensembl
zebrafish
chicken
fruit fly
Publications
First Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family., J Biol Chem 1999  
Most Recent De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., J Med Genet 2020  
All View All Papers 2 paper(s) referencing OMIMs 2 paper(s) referencing Disease Ontology
Functional Ontologies X. tropicalis X. laevis.L X. laevis.S
GO 18 terms 0 term 0 term
PANTHER slc12a6
KEGG Pathways K14427
KOG [P] K+/Cl- cotransporter KCC1 and related transporters
Reagents X. tropicalis X. laevis.L X. laevis.S
CRISPRscan Tracks slc12a6
Clones Horizon Source BioScience Horizon Source BioScience
Plasmids Addgene Addgene

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