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    Slc12a6 solute carrier family 12, member 6 [ Mus musculus (house mouse) ]

    Gene ID: 107723, updated on 9-Dec-2024

    Summary

    Official Symbol
    Slc12a6provided by MGI
    Official Full Name
    solute carrier family 12, member 6provided by MGI
    Primary source
    MGI:MGI:2135960
    See related
    Ensembl:ENSMUSG00000027130 Ensembl:ENSMUSG00000096764 AllianceGenome:MGI:2135960
    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
    KCC3; gaxp; 9530023I19Rik
    Summary
    Enables potassium:chloride symporter activity and protein kinase binding activity. Involved in cellular response to glucose stimulus; chloride ion homeostasis; and potassium ion homeostasis. Located in axon and basolateral plasma membrane. Is expressed in nervous system and sensory organ. Used to study agenesis of the corpus callosum with peripheral neuropathy and motor peripheral neuropathy. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and agenesis of the corpus callosum with peripheral neuropathy. Orthologous to human SLC12A6 (solute carrier family 12 member 6). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bladder adult (RPKM 21.4), thymus adult (RPKM 18.0) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Slc12a6 in Genome Data Viewer
    Location:
    2 E3; 2 56.99 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (112096659..112193508)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (112266314..112363163)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4485 Neighboring gene STARR-positive B cell enhancer ABC_E7845 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:112106464-112106665 Neighboring gene STARR-positive B cell enhancer ABC_E10129 Neighboring gene NUT midline carcinoma, family member 1 Neighboring gene NOP10 ribonucleoprotein Neighboring gene predicted gene, 39908 Neighboring gene STARR-positive B cell enhancer mm9_chr2:112219168-112219469 Neighboring gene ER membrane protein complex subunit 4 Neighboring gene katanin p80 subunit B like 1 Neighboring gene STARR-positive B cell enhancer ABC_E5959 Neighboring gene STARR-positive B cell enhancer ABC_E3389 Neighboring gene STARR-positive B cell enhancer ABC_E11150 Neighboring gene ER membrane protein complex subunit 7

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ammonium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables potassium ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables potassium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium:chloride symporter activity IDA
    Inferred from Direct Assay
    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 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in ammonium import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell volume homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell volume homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell volume homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular hypotonic response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular hypotonic salinity response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular hypotonic salinity response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to glucose stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    involved_in monoatomic ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in potassium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion import across plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in potassium ion import across plasma membrane ISO
    Inferred from Sequence Orthology
    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
     
    Component Evidence Code Pubs
    NOT located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    solute carrier family 12 member 6
    Names
    K-Cl cotransporter 3
    electroneutral potassium-chloride cotransporter 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001362700.1NP_001349629.1  solute carrier family 12 member 6 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL683897, AL713853
      UniProtKB/TrEMBL
      Q6P6P5
      Related
      ENSMUSP00000124314.2, ENSMUST00000141047.2
      Conserved Domains (1) summary
      TIGR00930
      Location:941135
      2a30; K-Cl cotransporter
    2. NM_133648.2NP_598409.2  solute carrier family 12 member 6 isoform 1

      See identical proteins and their annotated locations for NP_598409.2

      Status: VALIDATED

      Source sequence(s)
      AK133006, AL683897, BC036323, BC051061
      Consensus CDS
      CCDS16552.1
      UniProtKB/TrEMBL
      Q6P6P5
      Related
      ENSMUSP00000051490.8, ENSMUST00000053666.8
      Conserved Domains (3) summary
      TIGR00930
      Location:581099
      2a30; K-Cl cotransporter
      pfam03522
      Location:7231099
      SLC12; Solute carrier family 12
      cl00456
      Location:158309
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
    3. NM_133649.2NP_598410.2  solute carrier family 12 member 6 isoform 2

      See identical proteins and their annotated locations for NP_598410.2

      Status: VALIDATED

      Source sequence(s)
      AK133006, BC036323, BC051061
      Consensus CDS
      CCDS16551.1
      UniProtKB/Swiss-Prot
      A2AGK1, Q924N3, Q924N4
      UniProtKB/TrEMBL
      Q3V0N8
      Related
      ENSMUSP00000028549.8, ENSMUST00000028549.14
      Conserved Domains (3) summary
      TIGR00930
      Location:1091150
      2a30; K-Cl cotransporter
      pfam03522
      Location:7741150
      SLC12; Solute carrier family 12
      cl00456
      Location:209360
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    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
      112096659..112193508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498546.5XP_006498609.1  solute carrier family 12 member 6 isoform X1

      UniProtKB/TrEMBL
      Q6P6P5
      Conserved Domains (1) summary
      TIGR00930
      Location:431084
      2a30; K-Cl cotransporter