About   Help   FAQ
Take the Alliance for Genomic Resources User Survey
Slc12a6 Gene Detail
Summary
  • Symbol
    Slc12a6
  • Name
    solute carrier family 12, member 6
  • Synonyms
    gaxp, KCC3
  • Feature Type
    protein coding gene
  • IDs
    MGI:2135960
    NCBI Gene: 107723
  • Gene Overview
    MyGene.info: SLC12A6
Location & Maps
more
  • Sequence Map
    Chr2:112265825-112363163 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      97339 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 56.99 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC12A6, solute carrier family 12 member 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SLC12A6, solute carrier family 12 member 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACCPN, KCC3, KCC3A, KCC3B
  • Links
    NCBI Gene ID: 9990
    neXtProt AC: NX_Q9UHW9

  • Chr Location
    15q13; chr15:34229996-34338064 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Slc12a6 mouse models; 1 with human SLC12A6 associations

Human Disease Mouse Models
       Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN   OMIM: 218000 View 3 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 8 alleles in 13 genetic backgrounds
    3 images
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    10
  • Genomic Mutations
    2 involving Slc12a6
  • Incidental Mutations
    APF
Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    10
  • GO References
    5
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    18
  • Tissues
    3
  • cDNA Data
    9
  • Literature Summary
    7
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    314 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000014929 solute carrier family 12 member 6
Molecular
Reagents
less
  • All nucleic 10
    cDNA 9
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:2447470
References
more
  • Summaries
    All 52
    Developmental Gene Expression 7
    Diseases 3
    Gene Ontology 5
    Phenotypes 24
  • 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:217087 Ding J, et al., Deletion of KCC3 in parvalbumin neurons leads to locomotor deficit in a conditional mouse model of peripheral neuropathy associated with agenesis of the corpus callosum. Behav Brain Res. 2014 Nov 1;274:128-36
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory