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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
  • Gene Overview
    MyGene.info: SLC12A4
Location & Maps
more
  • Sequence Map
    Chr8:105943590-105966074 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      22485 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 53.06 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLC12A4, solute carrier family 12 member 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC12A4, solute carrier family 12 member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CTC-479C5.17, hKCC1, KCC1
  • Links
    NCBI Gene ID: 6560
    neXtProt AC: NX_Q9UP95

  • Chr Location
    16q22.1; chr16:67943474-67968694 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotype references
  • All Mutations and Alleles
    15
  • Chemically induced (ENU)
    1
  • Gene trapped
    11
  • Targeted
    3
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031019 VEGA Gene Model | MGI Sequence Detail 22485 C57BL/6J ±  kb
transcript OTTMUST00000076845 VEGA | MGI Sequence Detail 3755 Not Applicable  
polypeptide OTTMUSP00000040516 VEGA | MGI Sequence Detail 1085 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    190 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 65
    Genomic 2
    cDNA 58
    Primer pair 5

    Microarray probesets 3
Other
Accession IDs
less
MGI:2142802
References
more
  • Summaries
    All 38
    Developmental Gene Expression 5
    Gene Ontology 4
    Phenotypes 6
  • 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:227339 Brown FC, et al., Activation of the erythroid K-Cl cotransporter Kcc1 enhances sickle cell disease pathology in a humanized mouse model. Blood. 2015 Dec 24;126(26):2863-70

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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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory