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    Slc12a2 solute carrier family 12, member 2 [ Mus musculus (house mouse) ]

    Gene ID: 20496, updated on 27-Nov-2024

    Summary

    Official Symbol
    Slc12a2provided by MGI
    Official Full Name
    solute carrier family 12, member 2provided by MGI
    Primary source
    MGI:MGI:101924
    See related
    Ensembl:ENSMUSG00000024597 AllianceGenome:MGI:101924
    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
    BSC2; Nkcc1; mBSC2; sy-ns; mNKCC1; 9330166H04Rik
    Summary
    Enables potassium ion transmembrane transporter activity. Involved in several processes, including cellular response to lipopolysaccharide; cellular response to potassium ion; and inorganic ion transmembrane transport. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; mammary gland duct morphogenesis; and regulation of secretion by cell. Located in several cellular components, including apical plasma membrane; basolateral plasma membrane; and neuronal cell body. Is expressed in several structures, including alimentary system; lung; metanephros; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78 and middle cerebral artery infarction. Orthologous to human SLC12A2 (solute carrier family 12 member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in mammary gland adult (RPKM 43.3), colon adult (RPKM 19.3) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Slc12a2 in Genome Data Viewer
    Location:
    18 D3; 18 32.15 cM
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (58011505..58079893)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (57878512..57946821)

    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 Hsp90 protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ammonium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ammonium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables chloride:monoatomic cation symporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables potassium ion transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein-folding chaperone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sodium:potassium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables sodium:potassium:chloride symporter activity IC
    Inferred by Curator
    more info
    PubMed 
    enables sodium:potassium:chloride symporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in T cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in T cell chemotaxis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ammonium transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in ammonium transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within branching involved in mammary gland duct morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell volume homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cell volume homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to chemokine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to chemokine ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to potassium ion 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in hyperosmotic response ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inorganic anion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in inorganic cation import across plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within intracellular chloride ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intracellular potassium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within intracellular sodium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within maintenance of blood-brain barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mammary duct terminal end bud growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of vascular wound healing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of aspartate secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell volume 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 import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in potassium ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in potassium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of matrix metallopeptidase secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of spontaneous synaptic transmission IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of spontaneous synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of spontaneous synaptic transmission ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sodium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transepithelial ammonium transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transepithelial chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basal plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lateral plasma 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
     
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    solute carrier family 12 member 2
    Names
    Na-K-2Cl cotransporter 1
    basolateral Na-K-Cl symporter
    bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1
    bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
    sodium/potassium/chloride cotransporters
    sodium/potassium/chloride transporters

    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_009194.3NP_033220.2  solute carrier family 12 member 2

      Status: VALIDATED

      Source sequence(s)
      AC127678, CJ172807, CN711123, U13174
      Consensus CDS
      CCDS37826.1
      UniProtKB/Swiss-Prot
      E9PYU3, P55012
      UniProtKB/TrEMBL
      E9QM38
      Related
      ENSMUSP00000111023.3, ENSMUST00000115366.3
      Conserved Domains (3) summary
      TIGR00930
      Location:2101206
      2a30; K-Cl cotransporter
      pfam03522
      Location:7951206
      SLC12; Solute carrier family 12
      pfam08403
      Location:196257
      AA_permease_N; Amino acid permease N-terminal

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      58011505..58079893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525732.4XP_006525795.1  solute carrier family 12 member 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PYU3, P55012
      Conserved Domains (2) summary
      PRK07764
      Location:374
      PRK07764; DNA polymerase III subunits gamma and tau; Validated
      TIGR00930
      Location:2101190
      2a30; K-Cl cotransporter

    RNA

    1. XR_001782352.2 RNA Sequence