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

    Gene ID: 131096, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_144633.3NP_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:548685
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:551662
      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:42133
      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:239481
      Ion_trans; Ion transport protein
      pfam06757
      Location:848899
      Ins_allergen_rp; Insect allergen related repeat, nitrile-specifier detoxification
      pfam07885
      Location:421475
      Ion_trans_2; Ion channel
      pfam13426
      Location:29135
      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_017005698.3XP_016861187.1  potassium voltage-gated channel subfamily H member 8 isoform X1

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

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

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

      UniProtKB/TrEMBL
      B7Z398
    5. XM_047447429.1XP_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_054345194.1XP_054201169.1  potassium voltage-gated channel subfamily H member 8 isoform X1

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

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

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

      UniProtKB/TrEMBL
      B7Z398
    5. XM_054345197.1XP_054201172.1  potassium voltage-gated channel subfamily H member 8 isoform X4