About   Help   FAQ
Slc12a4 Gene Detail
Summary
  • Symbol
    Slc12a4
  • Name
    solute carrier family 12, member 4
  • Synonyms
    KCC1, K-Cl Co-transporter-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1309465
    NCBI Gene: 20498
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:106670222-106692729 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.06 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    190 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1309465
protein coding gene Chr8:106670222-106692781 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034070
protein coding gene Chr8:108268777-108291655 (-)
A/J MGP_AJ_G0034051
protein coding gene Chr8:103941668-103965312 (-)
AKR/J MGP_AKRJ_G0033977
protein coding gene Chr8:106941355-106964930 (-)
BALB/cJ MGP_BALBcJ_G0034044
protein coding gene Chr8:104124713-104147732 (-)
C3H/HeJ MGP_C3HHeJ_G0033756
protein coding gene Chr8:107684159-107707094 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034564
protein coding gene Chr8:112240369-112262986 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031506
protein coding gene Chr8:97074860-97097332 (-)
CAST/EiJ MGP_CASTEiJ_G0033082
protein coding gene Chr8:107205366-107231729 (-)
CBA/J MGP_CBAJ_G0033729
protein coding gene Chr8:115845945-115871087 (-)
DBA/2J MGP_DBA2J_G0033884
protein coding gene Chr8:103284867-103307566 (-)
FVB/NJ MGP_FVBNJ_G0033829
protein coding gene Chr8:102218649-102241639 (-)
LP/J MGP_LPJ_G0033975
protein coding gene Chr8:108483420-108507416 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033873
protein coding gene Chr8:119036782-119060146 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034582
protein coding gene Chr8:106909231-106934672 (-)
PWK/PhJ MGP_PWKPhJ_G0032783
protein coding gene Chr8:102689027-102711490 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032624
protein coding gene Chr8:105601532-105626620 (-)
WSB/EiJ MGP_WSBEiJ_G0033198
protein coding gene Chr8:107595835-107619178 (-)



Homology
more
  • Human Ortholog
    SLC12A4, solute carrier family 12 member 4
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC12A4, solute carrier family 12 member 4
  • Synonyms
    CTC-479C5.17, hKCC1, KCC1
  • Links
    NCBI Gene ID: 6560
    neXtProt AC: NX_Q9UP95
    UniProt: Q9UP95

  • Chr Location
    16q22.1; chr16:67943474-67969601 (-)  GRCh38

Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    13 phenotypes from multigenic genotypes
    12 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.
Mice homozygous for a constitutively active mutation display microcytosis and hypochromic anemia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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
non-membrane-bounded 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
  • Tissues
  • cDNA Data
  • Literature Summary
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000017765 Ensembl Gene Model | MGI Sequence Detail 22508 C57BL/6J ±  kb
transcript ENSMUST00000034370 Ensembl | MGI Sequence Detail 3811 Not Applicable  
polypeptide ENSMUSP00000034370 Ensembl | MGI Sequence Detail 1087 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 68
    Genomic 2
    cDNA 60
    Primer pair 6

    Microarray probesets 3
Other
Accession IDs
less
MGI:2142802
References
more
  • Summaries
    All 49
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 5
    Phenotypes 12
  • Earliest
    J:46469 Pellegrino CM, et al., Molecular identification and expression of erythroid K:Cl cotransporter in human and mouse erythroleukemic cells. Blood Cells Mol Dis. 1998 Mar;24(1):31-40
  • Latest
    J:322288 Shmukler BE, et al., Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes. Physiol Rep. 2022 Mar;10(5):e15186

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
03/12/2024
MGI 6.23
The Jackson Laboratory