About   Help   FAQ
Slc12a6 Gene Detail
Summary
  • Symbol
    Slc12a6
  • Name
    solute carrier family 12, member 6
  • Synonyms
    gaxp, KCC3
Location &
Maps
more
  • Sequence Map
    Chr2:112096659-112193508 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 56.99 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1693 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2135960
 protein coding gene Chr2:112096170-112193508 (+)
129S1/SvImJ ENSMUSG00200007863
 protein coding gene Chr2:108993012-109083914 (+)
A/J ENSMUSG00195029271
 protein coding gene Chr2:109067497-109158403 (+)
AKR/J ENSMUSG00220004380
 protein coding gene Chr2:108924693-109023964 (+)
BALB/cJ ENSMUSG00180032155
 protein coding gene Chr2:108862574-108953477 (+)
C3H/HeJ ENSMUSG00175028003
 protein coding gene Chr2:109286370-109377984 (+)
C57BL/6NJ ENSMUSG00215024977
 protein coding gene Chr2:108995720-109093050 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024088
 protein coding gene Chr2:105243329-105343714 (+)
CAST/EiJ ENSTCUG00005005407
 protein coding gene Chr2:108226967-108317500 (+)
CBA/J ENSMUSG00210036477
 protein coding gene Chr2:109136634-109227533 (+)
DBA/2J ENSMUSG00185037486
 protein coding gene Chr2:108859020-108949929 (+)
FVB/NJ ENSMUSG00205013600
 protein coding gene Chr2:108075176-108166078 (+)
JF1/MsJ ENSUMUG00000002030
 protein coding gene Chr2:108678458-108770076 (+)
LP/J ENSMUSG00230005156
 protein coding gene Chr2:110655143-110746042 (+)
NOD/ShiLtJ ENSMUSG00190014917
 protein coding gene Chr2:109078044-109168939 (+)
NZO/HlLtJ ENSMUSG00225012710
 protein coding gene Chr2:118555279-118646176 (+)
PWK/PhJ ENSLUMG00010003246
 protein coding gene Chr2:108586967-108679012 (+)
SPRET/EiJ ENSMSPG00010035522
 protein coding gene Chr2:110875211-110967143 (+)
WSB/EiJ ENSIUOG00005030780
 protein coding gene Chr2:108770594-108861127 (+)



Homology
more
  • Human Ortholog
    SLC12A6, solute carrier family 12 member 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC12A6, solute carrier family 12 member 6
  • Synonyms
    ACCPN, CMT2II, KCC3, KCC3A, KCC3B
  • Links
    NCBI Gene ID: 9990
    UniProt: Q9UHW9

  • Chr Location
    15q14; chr15:34229784-34338060 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Slc12a6 mouse models; 2 with human SLC12A6 associations

Human Disease Mouse Models
      
IDs
 View 3 models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 9 alleles in 14 genetic backgrounds
    3 images
    32 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.
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
    44
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    620
  • Tissues
    7
  • cDNA Data
    10
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 107723 NCBI Gene Model | MGI Sequence Detail 96850 C57BL/6J ±  kb
    transcript NM_133649 RefSeq | MGI Sequence Detail 6631 C57BL/6  
    polypeptide Q924N4 UniProt | EBI | MGI Sequence Detail 1150 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Primer pair 1
      Antibodies 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2447470
    References
    more
    • Summaries
      All 77
      Developmental Gene Expression 8
      Diseases 4
      Gene Ontology 14
      Phenotypes 32
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:327440 Ferdaus MZ, et al., KCC3a, a Strong Candidate Pathway for K(+) Loss in Alkalemia. Front Cell Dev Biol. 2022;10:931326
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory