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    Kcnh3 potassium voltage-gated channel, subfamily H (eag-related), member 3 [ Mus musculus (house mouse) ]

    Gene ID: 16512, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Kcnh3provided by MGI
    Official Full Name
    potassium voltage-gated channel, subfamily H (eag-related), member 3provided by MGI
    Primary source
    MGI:MGI:1341723
    See related
    Ensembl:ENSMUSG00000037579 AllianceGenome:MGI:1341723
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Elk2; Melk2; Kv12.2; C030044P22Rik
    Summary
    The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. An increase in cognitive function was observed when this gene was knocked out, while deletion of the gene resulted in hippocampal hyperexcitability and epilepsy. [provided by RefSeq, Sep 2015]
    Expression
    Biased expression in frontal lobe adult (RPKM 30.6), cortex adult (RPKM 30.2) and 5 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    15 F1; 15 56.08 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (99122396..99140699)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (99224517..99242818)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C22 Neighboring gene spermatogenesis associated, serine-rich 2 Neighboring gene predicted gene, 57817 Neighboring gene predicted gene, 25183 Neighboring gene STARR-seq mESC enhancer starr_39699 Neighboring gene predicted gene, 46538 Neighboring gene RIKEN cDNA 1700120C14 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:99082061-99082244 Neighboring gene STARR-positive B cell enhancer ABC_E1486 Neighboring gene STARR-positive B cell enhancer ABC_E7417 Neighboring gene microspherule protein 1 Neighboring gene predicted gene, 25999 Neighboring gene family with sequence similarity 186, member B Neighboring gene pre-mRNA processing factor 40B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Deletion of the potassium channel Kv12.2 causes hippocampal hyperexcitability and epilepsy. Zhang X, et al. Nat Neurosci, 2010 Sep. PMID 20676103, Free PMC Article
    2. Triple N-glycosylation in the long S5-P loop regulates the activation and trafficking of the Kv12.2 potassium channel. Noma K, et al. J Biol Chem, 2009 Nov 27. PMID 19808681, Free PMC Article
    3. Disruption of the ether-a-go-go K+ channel gene BEC1/KCNH3 enhances cognitive function. Miyake A, et al. J Neurosci, 2009 Nov 18. PMID 19923296, Free PMC Article
    4. Functional analysis of a mouse brain Elk-type K+ channel. Trudeau MC, et al. J Neurosci, 1999 Apr 15. PMID 10191308, Free PMC Article
    5. KCNE1 and KCNE3 beta-subunits regulate membrane surface expression of Kv12.2 K(+) channels in vitro and form a tripartite complex in vivo. Clancy SM, et al. PLoS One, 2009 Jul 22. PMID 19623261, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kv12-encoded K+ channels drive the day-night switch in the repetitive firing rates of SCN neurons.
      Title: Kv12-encoded K+ channels drive the day-night switch in the repetitive firing rates of SCN neurons.
    2. Authors identified ligands of the TGFbeta- and IGF-family, Foxo1, Foxo3 and Kcnh3 as novel FOXG1-target genes during telencephalic development and showed that FOXG1 interferes with Foxo1 and Tgfbeta transcription.
      Title: The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons.
    3. We found the voltage-gated K+ channel Kv12.2 to be a potent regulator of excitability in hippocampal pyramidal neurons. Genetic deletion and pharmacologic block of Kv12.2 substantially reduced the firing threshold of these neurons.
      Title: Deletion of the potassium channel Kv12.2 causes hippocampal hyperexcitability and epilepsy.
    4. Data suggest that only glycosylated Kv12.2 channels (Kcnh3) show proper voltage dependence and are utilized in vivo.
      Title: Triple N-glycosylation in the long S5-P loop regulates the activation and trafficking of the Kv12.2 potassium channel.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables monoatomic ion channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables potassium channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of monoatomic ion channel complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    potassium voltage-gated channel subfamily H member 3
    Names
    ELK channel 2
    ether a go-go like
    ether-a-go-go-like potassium channel 2
    voltage-gated potassium channel subunit Kv12.2

    NCBI Reference Sequences (RefSeq)

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    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_010601.4 → NP_034731.3  potassium voltage-gated channel subfamily H member 3

      See identical proteins and their annotated locations for NP_034731.3

      Status: REVIEWED

      Source sequence(s)
      AC161198
      Consensus CDS
      CCDS27817.1
      UniProtKB/Swiss-Prot
      B2RU85, E9QMZ8, Q6U1M1, Q9WVJ0
      Related
      ENSMUSP00000040548.4, ENSMUST00000041415.5
      Conserved Domains (3) summary
      TIGR03896
      Location:617 → 712
      cyc_nuc_ocin; bacteriocin-type transport-associated protein
      cl26073
      Location:227 → 662
      Ank_2; Ankyrin repeats (3 copies)
      cl28304
      Location:41 → 134
      PRK15347; two component system sensor kinase SsrA; Provisional

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      99122396..99140699
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520483.5 → XP_006520546.1  potassium voltage-gated channel subfamily H member 3 isoform X1

      Conserved Domains (3) summary
      PLN03192
      Location:233 → 668
      PLN03192; Voltage-dependent potassium channel; Provisional
      TIGR03896
      Location:623 → 718
      cyc_nuc_ocin; bacteriocin-type transport-associated protein
      pfam13426
      Location:40 → 135
      PAS_9; PAS domain

    2. XM_036159170.1 → XP_036015063.1  potassium voltage-gated channel subfamily H member 3 isoform X2

      Conserved Domains (3) summary
      PLN03192
      Location:173 → 608
      PLN03192; Voltage-dependent potassium channel; Provisional
      PRK13557
      Location:4 → 74
      PRK13557; histidine kinase; Provisional
      TIGR03896
      Location:563 → 658
      cyc_nuc_ocin; bacteriocin-type transport-associated protein

    3. XM_036159171.1 → XP_036015064.1  potassium voltage-gated channel subfamily H member 3 isoform X3

      Conserved Domains (3) summary
      PLN03192
      Location:167 → 602
      PLN03192; Voltage-dependent potassium channel; Provisional
      PRK13557
      Location:4 → 74
      PRK13557; histidine kinase; Provisional
      TIGR03896
      Location:557 → 652
      cyc_nuc_ocin; bacteriocin-type transport-associated protein

    4. XM_030248344.2 → XP_030104204.1  potassium voltage-gated channel subfamily H member 3 isoform X3

      Conserved Domains (3) summary
      PLN03192
      Location:167 → 602
      PLN03192; Voltage-dependent potassium channel; Provisional
      PRK13557
      Location:4 → 74
      PRK13557; histidine kinase; Provisional
      TIGR03896
      Location:557 → 652
      cyc_nuc_ocin; bacteriocin-type transport-associated protein

    5. XM_006520484.4 → XP_006520547.1  potassium voltage-gated channel subfamily H member 3 isoform X2

      Conserved Domains (3) summary
      PLN03192
      Location:173 → 608
      PLN03192; Voltage-dependent potassium channel; Provisional
      PRK13557
      Location:4 → 74
      PRK13557; histidine kinase; Provisional
      TIGR03896
      Location:563 → 658
      cyc_nuc_ocin; bacteriocin-type transport-associated protein

    6. XM_030248343.2 → XP_030104203.1  potassium voltage-gated channel subfamily H member 3 isoform X3

      Conserved Domains (3) summary
      PLN03192
      Location:167 → 602
      PLN03192; Voltage-dependent potassium channel; Provisional
      PRK13557
      Location:4 → 74
      PRK13557; histidine kinase; Provisional
      TIGR03896
      Location:557 → 652
      cyc_nuc_ocin; bacteriocin-type transport-associated protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WVJ0.3 GenPept UniProtKB/Swiss-Prot:Q9WVJ0

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