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    Slc12a3 solute carrier family 12, member 3 [ Mus musculus (house mouse) ]

    Gene ID: 20497, updated on 2-Nov-2024

    Summary

    Official Symbol
    Slc12a3provided by MGI
    Official Full Name
    solute carrier family 12, member 3provided by MGI
    Primary source
    MGI:MGI:108114
    See related
    Ensembl:ENSMUSG00000031766 AllianceGenome:MGI:108114
    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
    NCC; TSC; NCCT
    Summary
    Enables sodium:chloride symporter activity. Involved in several processes, including response to aldosterone; response to dietary excess; and sodium ion transmembrane transport. Located in apical plasma membrane and cytosol. Is active in plasma membrane. Is expressed in metanephros. Used to study Gitelman syndrome. Human ortholog(s) of this gene implicated in Gitelman syndrome and essential hypertension. Orthologous to human SLC12A3 (solute carrier family 12 member 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward kidney adult (RPKM 195.7) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Slc12a3 in Genome Data Viewer
    Location:
    8 C5; 8 46.46 cM
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (95055737..95092850)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (94329109..94366222)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L10, pseudogene 5 Neighboring gene nucleoporin 93 Neighboring gene microRNA 138-2 Neighboring gene STARR-positive B cell enhancer ABC_E8256 Neighboring gene STARR-positive B cell enhancer ABC_E3794 Neighboring gene STARR-positive B cell enhancer ABC_E2270 Neighboring gene predicted gene 15889 Neighboring gene homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sodium ion transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sodium ion transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables sodium:chloride symporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sodium:chloride symporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables sodium:potassium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell volume homeostasis 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 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 chloride 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 import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in renal sodium ion absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium ion absorption ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to aldosterone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to dietary excess IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sodium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sodium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sodium ion transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion 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 cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    solute carrier family 12 member 3
    Names
    Na-Cl symporter
    thiazide-sensitive sodium-chloride cotransporter

    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_001205311.1NP_001192240.1  solute carrier family 12 member 3 isoform 1

      See identical proteins and their annotated locations for NP_001192240.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC128663, AK052691
      Consensus CDS
      CCDS57632.1
      UniProtKB/Swiss-Prot
      P59158
      UniProtKB/TrEMBL
      Q543E4, Q62439
      Related
      ENSMUSP00000034218.4, ENSMUST00000034218.5
      Conserved Domains (3) summary
      TIGR00930
      Location:571001
      2a30; K-Cl cotransporter
      pfam03522
      Location:6531001
      SLC12; Solute carrier family 12
      pfam08403
      Location:43113
      AA_permease_N; Amino acid permease N-terminal
    2. NM_019415.2NP_062288.2  solute carrier family 12 member 3 isoform 2

      See identical proteins and their annotated locations for NP_062288.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AI647800, AI882166, AK052691
      UniProtKB/TrEMBL
      Q62439
      Conserved Domains (3) summary
      TIGR00930
      Location:571000
      2a30; K-Cl cotransporter
      pfam03522
      Location:6521000
      SLC12; Solute carrier family 12
      pfam08403
      Location:43112
      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_000074.7 Reference GRCm39 C57BL/6J

      Range
      95055737..95092850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312625.1XP_017168114.1  solute carrier family 12 member 3 isoform X1

      UniProtKB/TrEMBL
      Q62439
      Conserved Domains (1) summary
      TIGR00930
      Location:571008
      2a30; K-Cl cotransporter
    2. XM_017312626.1XP_017168115.1  solute carrier family 12 member 3 isoform X2

      UniProtKB/TrEMBL
      Q62439
      Conserved Domains (1) summary
      TIGR00930
      Location:571007
      2a30; K-Cl cotransporter
    3. XM_017312627.2XP_017168116.1  solute carrier family 12 member 3 isoform X3

      Conserved Domains (1) summary
      TIGR00930
      Location:57561
      2a30; K-Cl cotransporter

    RNA

    1. XR_001778414.1 RNA Sequence

    2. XR_004934784.1 RNA Sequence