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

    Gene ID: 57468, updated on 6-Aug-2017
    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; Vega:OTTHUMG00000032638
    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; 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]
    Orthologs
    Location:
    20q13.12
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (46021690..46060150)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44650329..44688789)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ferritin light chain pseudogene 1 Neighboring gene matrix metallopeptidase 9 Neighboring gene uncharacterized LOC105372632 Neighboring gene nuclear receptor coactivator 5 Neighboring gene ribosomal protein L13 pseudogene 2

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Cation-coupled Chloride cotransporters, organism-specific biosystem (from REACTOME)
      Cation-coupled Chloride cotransporters, organism-specific biosystemThe cation-chloride cotransporter family (SLC12 gene family) are membrane proteins that cotranslocate chloride (Cl-) with either Na+, K+, or both cations electroneutrally. The general topology of the...
    • GABAergic synapse, organism-specific biosystem (from KEGG)
      GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • GABAergic synapse, conserved biosystem (from KEGG)
      GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
      Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA1176

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chloride transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    potassium ion symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    potassium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    potassium:chloride symporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    potassium:chloride symporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cellular chloride ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular ion homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic spine development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transport TAS
    Traceable Author Statement
    more info
     
    learning IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    thermosensory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    dendritic shaft IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    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

    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_046341.1 RefSeqGene

      Range
      5001..43461
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001134771.1NP_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)
      AF208159, BC036329, BC132668, DA102113
      Consensus CDS
      CCDS46610.1
      UniProtKB/Swiss-Prot
      Q9H2X9
      Related
      ENSP00000387694.1, OTTHUMP00000273845, ENST00000454036.6, OTTHUMT00000471538
      Conserved Domains (2) summary
      TIGR00930
      Location:441139
      2a30; K-Cl cotransporter
      pfam03522
      Location:7121139
      SLC12; Solute carrier family 12
    2. NM_020708.4NP_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)
      AF208159, BC036329, BC132668, DC320473
      Consensus CDS
      CCDS13391.1
      UniProtKB/Swiss-Prot
      Q9H2X9
      Related
      ENSP00000243964.3, OTTHUMP00000031197, ENST00000243964.6, OTTHUMT00000079558
      Conserved Domains (2) summary
      TIGR00930
      Location:211116
      2a30; K-Cl cotransporter
      pfam03522
      Location:6891116
      SLC12; Solute carrier family 12

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      46021690..46060150
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027981.1XP_016883470.1  solute carrier family 12 member 5 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      44552972..44591426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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