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

Gene ID: 57138, updated on 17-Jan-2023

Summary

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 dendritic shaft; neuronal cell body; and plasma 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, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 71.6), cortex adult (RPKM 67.7) and 6 other tissues See more
Orthologs
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Genomic context

See Slc12a5 in Genome Data Viewer
Location:
2; 2 H3
Exon count:
27
Annotation release Status Assembly Chr Location
109 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 zinc finger protein 335, opposite strand Neighboring gene matrix metallopeptidase 9 Neighboring gene heat shock protein 90, alpha (cytosolic), class A member 1 pseudogene Neighboring gene nuclear receptor coactivator 5 Neighboring gene CD40 antigen

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (10)  1 citation
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ammonium transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables chloride transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables chloride:monoatomic cation symporter activity IEA
Inferred from Electronic Annotation
more info
 
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 protein kinase binding ISO
Inferred from Sequence Orthology
more info
 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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
PubMed 
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in hypotonic response ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular chloride ion homeostasis ISO
Inferred from Sequence Orthology
more info
 
involved_in intracellular monoatomic ion homeostasis ISO
Inferred from Sequence Orthology
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
 
acts_upstream_of_or_within multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in potassium ion transport ISO
Inferred from Sequence Orthology
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 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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 cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

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_001355480.1NP_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
    Q9Z0M7
    UniProtKB/TrEMBL
    A0A076FRG6
    Related
    ENSMUSP00000144623.2, ENSMUST00000202623.4
    Conserved Domains (1) summary
    TIGR00930
    Location:441138
    2a30; K-Cl cotransporter
  2. NM_001355481.1NP_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:441133
    2a30; K-Cl cotransporter
  3. NM_020333.2NP_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/Swiss-Prot
    Q91V14
    UniProtKB/TrEMBL
    A0A076FSX1
    Related
    ENSMUSP00000096690.5, ENSMUST00000099092.8
    Conserved Domains (2) summary
    TIGR00930
    Location:211115
    2a30; K-Cl cotransporter
    pfam03522
    Location:6891115
    SLC12; Solute carrier family 12

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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)