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Slc12a5 solute carrier family 12, member 5 [ Mus musculus (house mouse) ]

Gene ID: 57138, updated on 5-Nov-2024

Summary

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Official Symbol
Slc12a5provided by MGI
Official Full Name
solute carrier family 12, member 5provided by MGI
Primary source
MGI:MGI:1862037
See related
Ensembl:ENSMUSG00000017740 AllianceGenome:MGI:1862037
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
KCC2; mKIAA1176
Summary
Enables potassium:chloride symporter activity. Acts upstream of or within several processes, including chloride transport; learning; and thermosensory behavior. Located in neuronal cell body and plasma membrane. Is active in postsynaptic specialization membrane. Is expressed in several structures, including central nervous system and retina. Used to study epilepsy. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 34 and idiopathic generalized epilepsy 14. Orthologous to human SLC12A5 (solute carrier family 12 member 5). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cerebellum adult (RPKM 71.6), cortex adult (RPKM 67.7) and 6 other tissues See more
Orthologs
human all
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Genomic context

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See Slc12a5 in Genome Data Viewer
Location:
2 H3; 2 85.28 cM
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (164802766..164841651)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (164960846..164999731)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene zinc finger protein 335 Neighboring gene STARR-seq mESC enhancer starr_06342 Neighboring gene zinc finger protein 335, opposite strand Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:164764412-164764521 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:164768440-164768694 Neighboring gene matrix metallopeptidase 9 Neighboring gene STARR-seq mESC enhancer starr_06346 Neighboring gene heat shock protein 90, alpha (cytosolic), class A member 1 pseudogene Neighboring gene nuclear receptor coactivator 5 Neighboring gene STARR-positive B cell enhancer ABC_E2060 Neighboring gene STARR-positive B cell enhancer ABC_E4518 Neighboring gene CD40 antigen

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Potentiating KCC2 activity is sufficient to limit the onset and severity of seizures. Moore YE, et al. Proc Natl Acad Sci U S A, 2018 Oct 2. PMID 30224498, Free PMC Article
  2. KCC2 Chloride Transport Contributes to the Termination of Ictal Epileptiform Activity. Dzhala VI, et al. eNeuro, 2021 Mar-Apr. PMID 33239270, Free PMC Article
  3. Expression of the KCl cotransporter KCC2 parallels neuronal maturation and the emergence of low intracellular chloride. Stein V, et al. J Comp Neurol, 2004 Jan 1. PMID 14648690
  4. Modulation of spinal GABAergic analgesia by inhibition of chloride extrusion capacity in mice. Asiedu MN, et al. J Pain, 2012 Jun. PMID 22537560, Free PMC Article
  5. Development and persistence of neuropathic pain through microglial activation and KCC2 decreasing after mouse tibial nerve injury. Kosaka Y, et al. Brain Res, 2020 Apr 15. PMID 32045595

See all (180) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reduced Gene Expression of KCC2 Accelerates Axonal Regeneration and Reduces Motor Dysfunctions after Tibial Nerve Severance and Suturing.
    Title: Reduced Gene Expression of KCC2 Accelerates Axonal Regeneration and Reduces Motor Dysfunctions after Tibial Nerve Severance and Suturing.
  2. Constitutive KCC2 Cell- and Synapse-Specifically Regulates NMDA Receptor Activity in the Spinal Cord.
    Title: Constitutive KCC2 Cell- and Synapse-Specifically Regulates NMDA Receptor Activity in the Spinal Cord.
  3. BDNF-TrkB signaling pathway-mediated microglial activation induces neuronal KCC2 downregulation contributing to dynamic allodynia following spared nerve injury.
    Title: BDNF-TrkB signaling pathway-mediated microglial activation induces neuronal KCC2 downregulation contributing to dynamic allodynia following spared nerve injury.
  4. CRISPR-Based KCC2 Upregulation Attenuates Drug-Resistant Seizure in Mouse Models of Epilepsy.
    Title: CRISPR-Based KCC2 Upregulation Attenuates Drug-Resistant Seizure in Mouse Models of Epilepsy.
  5. Silencing KCC2 in mouse dorsal hippocampus compromises spatial and contextual memory.
    Title: Silencing KCC2 in mouse dorsal hippocampus compromises spatial and contextual memory.
  6. KCC2 downregulation after sciatic nerve injury enhances motor function recovery.
    Title: KCC2 downregulation after sciatic nerve injury enhances motor function recovery.
  7. Emergence of consciousness from anesthesia through ubiquitin degradation of KCC2 in the ventral posteromedial nucleus of the thalamus.
    Title: Emergence of consciousness from anesthesia through ubiquitin degradation of KCC2 in the ventral posteromedial nucleus of the thalamus.
  8. Therapeutic effects of KCC2 chloride transporter activation on detrusor overactivity in mice with spinal cord injury.
    Title: Therapeutic effects of KCC2 chloride transporter activation on detrusor overactivity in mice with spinal cord injury.
  9. Role of NKCC1 and KCC2 during hypoxia-induced neuronal swelling in the neonatal neocortex.
    Title: Role of NKCC1 and KCC2 during hypoxia-induced neuronal swelling in the neonatal neocortex.
  10. Neonatal inflammation increases hippocampal KCC2 expression through methylation-mediated TGF-beta1 downregulation leading to impaired hippocampal cognitive function and synaptic plasticity in adult mice.
    Title: Neonatal inflammation increases hippocampal KCC2 expression through methylation-mediated TGF-β1 downregulation leading to impaired hippocampal cognitive function and synaptic plasticity in adult mice.
Submit: New GeneRIF Correction See all GeneRIFs (92)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (3) 
  • Targeted (10)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ammonium channel activity IEA
Inferred from Electronic Annotation
more info
  
enables ammonium channel activity ISO
Inferred from Sequence Orthology
more info
  
enables chloride transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables potassium:chloride symporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables potassium:chloride symporter activity ISO
Inferred from Sequence Orthology
more info
  
enables potassium:chloride symporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein kinase binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in ammonium transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in ammonium transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within chloride transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chloride transport ISO
Inferred from Sequence Orthology
more info
  
involved_in dendritic spine development IEA
Inferred from Electronic Annotation
more info
  
involved_in dendritic spine development ISO
Inferred from Sequence Orthology
more info
  
involved_in hypotonic response ISO
Inferred from Sequence Orthology
more info
  
involved_in hypotonic response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in intracellular chloride ion homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular chloride ion homeostasis ISO
Inferred from Sequence Orthology
more info
  
involved_in intracellular pH reduction IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular pH reduction ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within learning IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in monoatomic ion transport ISO
Inferred from Sequence Orthology
more info
  
involved_in monoatomic ion transport ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in postsynaptic neurotransmitter receptor diffusion trapping IEA
Inferred from Electronic Annotation
more info
  
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
  
involved_in potassium ion transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in potassium ion transport ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of postsynapse assembly IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within response to xenobiotic stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within thermosensory behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell periphery IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell periphery ISO
Inferred from Sequence Orthology
more info
  
located_in dendrite membrane IEA
Inferred from Electronic Annotation
more info
  
located_in dendrite membrane ISO
Inferred from Sequence Orthology
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in postsynaptic specialization membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
solute carrier family 12 member 5
Names
K-Cl cotransporter 2
electroneutral potassium-chloride cotransporter 2
mKCC2
neuronal K-Cl cotransporter

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001355480.1 → NP_001342409.1  solute carrier family 12 member 5 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL591495, KJ535321
    Consensus CDS
    CCDS89581.1
    UniProtKB/Swiss-Prot
    A2A5L0, Q3UHQ2, Q7TQC9, Q80TI5, Q91V14, Q9Z0M7
    UniProtKB/TrEMBL
    A0A076FRG6
    Related
    ENSMUSP00000144623.2, ENSMUST00000202623.4
    Conserved Domains (1) summary
    TIGR00930
    Location:44 → 1138
    2a30; K-Cl cotransporter

  2. NM_001355481.1 → NP_001342410.1  solute carrier family 12 member 5 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL591495, KJ535320
    Consensus CDS
    CCDS89582.1
    UniProtKB/TrEMBL
    A0A076FR46
    Related
    ENSMUSP00000143870.2, ENSMUST00000202223.4
    Conserved Domains (1) summary
    TIGR00930
    Location:44 → 1133
    2a30; K-Cl cotransporter

  3. NM_020333.2 → NP_065066.2  solute carrier family 12 member 5 isoform 3

    See identical proteins and their annotated locations for NP_065066.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK147262, BC054808
    Consensus CDS
    CCDS38332.1
    UniProtKB/TrEMBL
    A0A076FSX1
    Related
    ENSMUSP00000096690.5, ENSMUST00000099092.8
    Conserved Domains (2) summary
    TIGR00930
    Location:21 → 1115
    2a30; K-Cl cotransporter
    pfam03522
    Location:689 → 1115
    SLC12; Solute carrier family 12

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    164802766..164841651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91V14.2 GenPept UniProtKB/Swiss-Prot:Q91V14

Gene LinkOut

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