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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
    UniProt: Q9UHW9

  • Chr Location
    15q14; chr15:34229996-34338064 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Slc12a6 mouse models; 1 with human SLC12A6 associations

Human Disease Mouse Models
      
IDs
 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
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  • Phenotype Summary
    57 phenotypes from 8 alleles in 13 genetic backgrounds
    3 images
    25 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
  • Find Mice (IMSR)
    91 strains or lines available
Homozygotes for targeted null mutations exhibit locomotor deficits, progressive neurodegeneration, slow progressive deafness and failure to breed.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    16
  • 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
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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
    8
  • Literature Summary
    7
Interactions
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    314 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 9
    cDNA 8
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:2447470
References
more
  • Summaries
    All 56
    Developmental Gene Expression 7
    Diseases 3
    Gene Ontology 5
    Phenotypes 25
  • Earliest
    J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
  • Latest
    J:238231 Sun YT, et al., KCC3 deficiency-induced disruption of paranodal loops and impairment of axonal excitability in the peripheral nervous system. Neuroscience. 2016 Oct 29;335:91-102
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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Send questions and comments to User Support. 		last database update
06/13/2017
MGI 6.10 		The Jackson Laboratory