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    SLC12A5 solute carrier family 12 member 5 [ Homo sapiens (human) ]

    Gene ID: 57468, updated on 1-Mar-2024

    Summary

    Official Symbol
    SLC12A5provided by HGNC
    Official Full Name
    solute carrier family 12 member 5provided by HGNC
    Primary source
    HGNC:HGNC:13818
    See related
    Ensembl:ENSG00000124140 MIM:606726; AllianceGenome:HGNC:13818
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KCC2; DEE34; EIG14; hKCC2; EIEE34
    Summary
    K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
    Expression
    Restricted expression toward brain (RPKM 26.0) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC12A5 in Genome Data Viewer
    Location:
    20q13.12
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46021686..46060150)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47757715..47796165)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44650325..44688789)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44603922-44604458 Neighboring gene ferritin light chain pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44624055-44624562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44632651-44633302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44633303-44633954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44640983-44641493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12969 Neighboring gene SLC12A5 and MMP9 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12971 Neighboring gene matrix metallopeptidase 9 Neighboring gene Sharpr-MPRA regulatory region 13245 Neighboring gene Sharpr-MPRA regulatory region 3425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17957 Neighboring gene nuclear receptor coactivator 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:44717073-44717887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44717888-44718701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17960 Neighboring gene ribosomal protein L13 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ammonium transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chloride transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables potassium:chloride symporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in ammonium transmembrane transport IEA
    Inferred from Electronic Annotation
    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
     
    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 dendritic spine development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in hypotonic response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular chloride ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular pH reduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in learning IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
     
    involved_in multicellular organism growth 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 response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in thermosensory behavior 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendrite membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    solute carrier family 12 member 5
    Names
    K-Cl cotransporter 2
    electroneutral potassium-chloride cotransporter 2
    erythroid K-Cl cotransporter 2
    neuronal K-Cl cotransporter
    solute carrier family 12 (potassium/chloride transporter), member 5

    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.

    Genomic

    1. NG_046341.2 RefSeqGene

      Range
      12531..43466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134771.2NP_001128243.1  solute carrier family 12 member 5 isoform 1

      See identical proteins and their annotated locations for NP_001128243.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1, also known as KCC2a).
      Source sequence(s)
      AL162458
      Consensus CDS
      CCDS46610.1
      UniProtKB/Swiss-Prot
      A2RTX2, Q5VZ41, Q9H2X9, Q9H4Z0, Q9ULP4
      UniProtKB/TrEMBL
      A8K143
      Related
      ENSP00000387694.1, ENST00000454036.6
      Conserved Domains (1) summary
      TIGR00930
      Location:441139
      2a30; K-Cl cotransporter
    2. NM_020708.5NP_065759.1  solute carrier family 12 member 5 isoform 2

      See identical proteins and their annotated locations for NP_065759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2, also known as KCC2b) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL162458
      Consensus CDS
      CCDS13391.1
      UniProtKB/TrEMBL
      A8K143
      Related
      ENSP00000243964.4, ENST00000243964.7
      Conserved Domains (1) summary
      TIGR00930
      Location:211116
      2a30; K-Cl cotransporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      46021686..46060150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      47757715..47796165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)