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    KCNH7 potassium voltage-gated channel subfamily H member 7 [ Homo sapiens (human) ]

    Gene ID: 90134, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KCNH7provided by HGNC
    Official Full Name
    potassium voltage-gated channel subfamily H member 7provided by HGNC
    Primary source
    HGNC:HGNC:18863
    See related
    Ensembl:ENSG00000184611 MIM:608169; AllianceGenome:HGNC:18863
    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
    ERG3; HERG3; Kv11.3
    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. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 1.6), testis (RPKM 0.5) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KCNH7 in Genome Data Viewer
    Location:
    2q24.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (162371407..162838767, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (162828067..163295631, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (163227917..163695277, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373724 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12062 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:163175227-163176426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12064 Neighboring gene interferon induced with helicase C domain 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55234 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55244 Neighboring gene grancalcin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16719 Neighboring gene uncharacterized LOC124906084 Neighboring gene RNA, 5S ribosomal pseudogene 109 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55297 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:163568111-163568632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16722 Neighboring gene Sharpr-MPRA regulatory region 9339 Neighboring gene KCNH7 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:163721091-163721592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:163721593-163722092 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55438 Neighboring gene Sharpr-MPRA regulatory region 11367 Neighboring gene ribosomal protein L7 pseudogene 61 Neighboring gene uncharacterized LOC105373727 Neighboring gene RNA, U6 small nuclear 627, pseudogene

    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. Discovery of a heme-binding domain in a neuronal voltage-gated potassium channel. Burton MJ, et al. J Biol Chem, 2020 Sep 18. PMID 32723862, Free PMC Article
    2. Activation of hERG3 channel stimulates autophagy and promotes cellular senescence in melanoma. Perez-Neut M, et al. Oncotarget, 2016 Apr 19. PMID 26942884, Free PMC Article
    3. A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Strauss KA, et al. Hum Mol Genet, 2014 Dec 1. PMID 24986916, Free PMC Article
    4. ERG3 potassium channel-mediated suppression of neuronal intrinsic excitability and prevention of seizure generation in mice. Xiao K, et al. J Physiol, 2018 Oct. PMID 30016551, Free PMC Article
    5. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Martínez A, et al. Eur J Hum Genet, 2008 Jul. PMID 18285833

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome.
      Title: Potassium Ion Channel Protein (KCNH) Levels in Patients with Fibromyalgia Syndrome.
    2. Discovery of a heme-binding domain in a neuronal voltage-gated potassium channel.
      Title: Discovery of a heme-binding domain in a neuronal voltage-gated potassium channel.
    3. Low ERG3 expression is associated with epilepsy.
      Title: ERG3 potassium channel-mediated suppression of neuronal intrinsic excitability and prevention of seizure generation in mice.
    4. we have discovered that, the Kv11.3 (hERG3) a plasma-membrane potassium channel plays a critical role in the regulation of autophagy in a melanoma cell model
      Title: Activation of hERG3 channel stimulates autophagy and promotes cellular senescence in melanoma.
    5. KCNH7 c.1181G>A had the highest enrichment among individuals with bipolar spectrum disorder (x2 5 7.3) and the strongest family-based association with bipolar 1 (P 5 0.021), bipolar spectrum (P 5 0.031) and any major affective disorder (P 5 0.016).
      Title: A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.
    6. 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.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    8. IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients
      Title: IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients.
    9. IFIH1 interferon induced helicase, GCA grancalcin or the potassium channel KCNH7 - are potential candidates implicated in the pathogenesis of multiple sclerosis.
      Title: IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.
    10. 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 See all GeneRIFs (12)

    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
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    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

    Clone Names

    • MGC45986

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables inward rectifier potassium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inward rectifier potassium channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in circadian rhythm IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    voltage-gated inwardly rectifying potassium channel KCNH7; potassium voltage-gated channel subfamily H member 7
    Names
    ERG-3
    eag-related protein 3
    ether-a-go-go-related gene potassium channel 3
    ether-a-go-go-related protein 3
    potassium channel subunit HERG-3
    potassium channel, voltage gated eag related subfamily H, member 7
    voltage-gated potassium channel subunit Kv11.3

    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.

    Genomic

    1. NG_041938.1 RefSeqGene

      Range
      4981..472341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_033272.4 → NP_150375.2  voltage-gated inwardly rectifying potassium channel KCNH7 isoform 1

      See identical proteins and their annotated locations for NP_150375.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC007740, AC010876, AC104822, AF032897, BC035815, DR002425
      Consensus CDS
      CCDS2219.1
      UniProtKB/Swiss-Prot
      Q53QU4, Q53TB7, Q53TP9, Q8IV15, Q9NS40
      Related
      ENSP00000331727.5, ENST00000332142.10
      Conserved Domains (6) summary
      COG0664
      Location:739 → 876
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:745 → 856
      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:41 → 130
      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:448 → 671
      Ion_trans; Ion transport protein
      pfam07885
      Location:614 → 668
      Ion_trans_2; Ion channel
      pfam13426
      Location:29 → 134
      PAS_9; PAS domain

    2. NM_173162.3 → NP_775185.1  voltage-gated inwardly rectifying potassium channel KCNH7 isoform 2

      See identical proteins and their annotated locations for NP_775185.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal in-frame coding exon and several 3' terminal exons but contains an alternate 3' terminal segment, as compared to variant 1. Isoform 2 is shorter and has a distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC104822, BC035815, DR002425
      Consensus CDS
      CCDS2220.1
      Related
      ENSP00000333781.4, ENST00000328032.8
      Conserved Domains (2) summary
      pfam00520
      Location:402 → 664
      Ion_trans; Ion transport protein
      pfam13426
      Location:29 → 134
      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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      162371407..162838767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005220.3 → XP_016860709.1  potassium voltage-gated channel subfamily H member 7 isoform X4

    2. XM_017005219.3 → XP_016860708.1  potassium voltage-gated channel subfamily H member 7 isoform X3

    3. XM_017005218.3 → XP_016860707.1  potassium voltage-gated channel subfamily H member 7 isoform X2

    4. XM_011512109.4 → XP_011510411.1  potassium voltage-gated channel subfamily H member 7 isoform X1

      Conserved Domains (6) summary
      COG0664
      Location:747 → 884
      Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
      cd00038
      Location:753 → 864
      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:41 → 130
      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:456 → 679
      Ion_trans; Ion transport protein
      pfam07885
      Location:622 → 676
      Ion_trans_2; Ion channel
      pfam13426
      Location:29 → 134
      PAS_9; PAS domain

    5. XM_017005221.3 → XP_016860710.1  potassium voltage-gated channel subfamily H member 7 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      162828067..163295631 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344421.1 → XP_054200396.1  potassium voltage-gated channel subfamily H member 7 isoform X4

    2. XM_054344420.1 → XP_054200395.1  potassium voltage-gated channel subfamily H member 7 isoform X3

    3. XM_054344419.1 → XP_054200394.1  potassium voltage-gated channel subfamily H member 7 isoform X2

    4. XM_054344418.1 → XP_054200393.1  potassium voltage-gated channel subfamily H member 7 isoform X1

    5. XM_054344422.1 → XP_054200397.1  potassium voltage-gated channel subfamily H member 7 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NS40.2 GenPept UniProtKB/Swiss-Prot:Q9NS40

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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