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    KCNH8 potassium voltage-gated channel subfamily H member 8 [ Homo sapiens (human) ]

    Gene ID: 131096, updated on 2-Nov-2024

    Summary

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    Official Symbol
    KCNH8provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily H member 8provided by HGNC
    Primary source
    HGNC:HGNC:18864
    See related
    Ensembl:ENSG00000183960 MIM:608260; AllianceGenome:HGNC:18864
    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
    ELK; ELK1; elk3; Kv12.1; hElk-1
    Summary
    Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 4.2), adrenal (RPKM 1.5) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNH8 in Genome Data Viewer
    Location:
    3p24.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (19148510..19535642)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (19152636..19539692)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (19190002..19577134)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986066 Neighboring gene uncharacterized LOC105376978 Neighboring gene uncharacterized LOC105376981 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:19114887-19115448 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:19115449-19116010 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:19116011-19116572 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:19167677-19168876 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:19188257-19188850 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:19188851-19189444 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:19275326-19275842 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:19275843-19276358 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:19308542-19309065 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:19375136-19375636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14130 Neighboring gene microRNA 4791 Neighboring gene uncharacterized LOC105376982 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:19491994-19493193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14131 Neighboring gene NANOG hESC enhancer GRCh37_chr3:19709582-19710083 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:19713203-19713703 Neighboring gene uncharacterized LOC105376984 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:19896761-19897348 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:19906013-19907212 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67669 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67675 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67680 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67685 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_67687 and experimental_67689 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67692 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_67694 Neighboring gene Sharpr-MPRA regulatory region 12217 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 18 Neighboring gene EF-hand domain family member B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. K(v)12.1 channels are not sensitive to G(q)PCR-triggered activation of phospholipase Cβ. Dierich M, et al. Channels (Austin), 2018. PMID 30136882, Free PMC Article
    2. A novel membrane potential-sensitive fluorescent dye improves cell-based assays for ion channels. Baxter DF, et al. J Biomol Screen, 2002 Feb. PMID 11897058
    3. Distribution and functional properties of human KCNH8 (Elk1) potassium channels. Zou A, et al. Am J Physiol Cell Physiol, 2003 Dec. PMID 12890647
    4. Bimodal regulation of an Elk subfamily K+ channel by phosphatidylinositol 4,5-bisphosphate. Li X, et al. J Gen Physiol, 2015 Nov. PMID 26503718, Free PMC Article
    5. Genome-wide association with bone mass and geometry in the Framingham Heart Study. Kiel DP, et al. BMC Med Genet, 2007 Sep 19. PMID 17903296, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kv12.1 channels add to the growing list of K(+) channels that are insensitive to phospholipase C beta signaling
      Title: K(v)12.1 channels are not sensitive to G(q)PCR-triggered activation of phospholipase Cβ.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association with bone mass and geometry in the Framingham Heart Study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables delayed rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables voltage-gated potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in potassium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    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
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    voltage-gated delayed rectifier potassium channel KCNH8; potassium voltage-gated channel subfamily H member 8
    Names
    ELK channel 3
    ether-a-go-go-like potassium channel 1
    ether-a-go-go-like potassium channel 3
    hElk1
    potassium channel, voltage gated eag related subfamily H, member 8
    potassium voltage-gated channel, subfamily H (eag-related), member 8
    voltage-gated potassium channel subunit Kv12.1

    NCBI Reference Sequences (RefSeq)

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    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_144633.3 → NP_653234.2  voltage-gated delayed rectifier potassium channel KCNH8

      See identical proteins and their annotated locations for NP_653234.2

      Status: REVIEWED

      Source sequence(s)
      AC015542, AC061958, AC099538, AC116098, AC135452, AC138315
      Consensus CDS
      CCDS2632.1
      UniProtKB/Swiss-Prot
      B7Z2I7, Q59GQ6, Q96L42
      Related
      ENSP00000328813.2, ENST00000328405.7
      Conserved Domains (7) summary
      COG0664
      Location:548 → 685
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:551 → 662
      CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...
      cd00130
      Location:42 → 133
      PAS; PAS domain; PAS motifs appear in archaea, eubacteria and eukarya. Probably the most surprising identification of a PAS domain was that in EAG-like K+-channels. PAS domains have been found to bind ligands, and to act as sensors for light and oxygen in ...
      pfam00520
      Location:239 → 481
      Ion_trans; Ion transport protein
      pfam06757
      Location:848 → 899
      Ins_allergen_rp; Insect allergen related repeat, nitrile-specifier detoxification
      pfam07885
      Location:421 → 475
      Ion_trans_2; Ion channel
      pfam13426
      Location:29 → 135
      PAS_9; PAS domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      19148510..19535642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005698.3 → XP_016861187.1  potassium voltage-gated channel subfamily H member 8 isoform X1

    2. XM_017005700.3 → XP_016861189.1  potassium voltage-gated channel subfamily H member 8 isoform X3

    3. XM_017005699.2 → XP_016861188.1  potassium voltage-gated channel subfamily H member 8 isoform X2

    4. XM_047447430.1 → XP_047303386.1  potassium voltage-gated channel subfamily H member 8 isoform X5

    5. XM_047447429.1 → XP_047303385.1  potassium voltage-gated channel subfamily H member 8 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      19152636..19539692
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345194.1 → XP_054201169.1  potassium voltage-gated channel subfamily H member 8 isoform X1

    2. XM_054345196.1 → XP_054201171.1  potassium voltage-gated channel subfamily H member 8 isoform X3

    3. XM_054345195.1 → XP_054201170.1  potassium voltage-gated channel subfamily H member 8 isoform X2

    4. XM_054345198.1 → XP_054201173.1  potassium voltage-gated channel subfamily H member 8 isoform X5

    5. XM_054345197.1 → XP_054201172.1  potassium voltage-gated channel subfamily H member 8 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96L42.2 GenPept UniProtKB/Swiss-Prot:Q96L42

    Gene LinkOut

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