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KCNH4 Gene

protein-coding   GIFtS: 50

GC17M037562
potassium voltage-gated channel, subfamily H (eag-related), member 4
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
BEC2 2, 3
ELK1 2, 3
Kv12.3 1, 2
elk1 1
Descriptions
Brain-specific eag-like channel 2 2, 3
ELK channel 1 2, 3
Ether-a-go-go-like potassium channel 1 2, 3
Voltage-gated potassium channel subunit Kv12.3 3
ether-a-go-go K(+) channel family member 2
potassium voltage-gated channel, subfamily H (eag-related),
member 4 2
potassium voltage-gated channel, subfamily H, member 4 2
External Ids
HGNC: 62531
Entrez Gene: 234152
UniProtKB: Q9UQ053
Ensembl: ENSG000000895587
Search outside databases for aliases for KCNH4 gene

Previous GC identifers: GC17M039865 GC17M042464 GC17M040217 GC17M040682

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for KCNH4:
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. The gene is brain-specific, and located in the neocortex and the striatum. It may be
involved in cellular excitability of restricted neurons in the central nervous system. [provided
by RefSeq]

UniProtKB/Swiss-Prot: KCNH4_HUMAN, Q9UQ05
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward
current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit
assembly

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the KCNH4 gene  

Entrez Gene cytogenetic band: 17q21.2   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

KCNH4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M037562:     (about GC identifiers)

Start:
37,562,439 bp from pter
End:
37,586,822 bp from pter
Size:
24,384 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010755.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: KCNH4_HUMAN, Q9UQ05 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 4  
Size: 1017 amino acids; 111693 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of
pore-forming alpha subunits that can associate with modulating beta subunits
Subcellular location: Membrane; Multi-pass membrane protein

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_036417.1  

    ENSEMBL proteins: 
    ENSP00000264661 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
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    Browse R&D Systems for human recombinant proteins
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    Browse Abcam for Recombinant Proteins
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008076 voltage-gated potassium channel complex TAS10455180
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for KCNH4: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for KCNH4

    Assays for KCNH4: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/10 InterPro domains/families (see all 10 ):
     IPR003950 K_chnl_volt-dep_ELK
     IPR018488 cNMP_bd_CS
     IPR005821 Ion_trans
     IPR000595 cNMP_bd
     IPR001610 PAC


       GeneDecks  KCNH4 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q9UQ05

    ProtoNet protein and cluster: Q9UQ05

    5/6 Blocks protein families (see all 6 ):
    IPB000014 PAS domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001610 PAC motif
    IPB003938 EAG/ELK/ERG potassium channel family signature
    IPB003950 ELK potassium channel family signature


    UniProtKB/Swiss-Prot: KCNH4_HUMAN, Q9UQ05
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of
    positively charged amino acids at every third position
    Similarity: Belongs to the potassium channel family. H (Eag) subfamily
    Similarity: Contains 1 cyclic nucleotide-binding domain
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 1 PAS (PER-ARNT-SIM) domain

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNH4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNH4)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012285

                  Applied Biosystems Silencer® siRNAs for KCNH4

                  Sigma-Aldrich siRNA and siRNA Panels for KCNH4  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNH4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_012285
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_012285
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_012285 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_012285

    UniProtKB/Swiss-Prot: KCNH4_HUMAN, Q9UQ05
    Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward
    current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit
    assembly

    4 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155 two-component sensor activity IEA--
    GO:0005244 voltage-gated ion channel activity IEA--
    GO:0005249 voltage-gated potassium channel activity TAS10455180
    GO:0030955 potassium ion binding IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Millipore Pathway for KCNH4
      outward current

       GeneDecks  KCNH4 for the pathways selected above  
    About GeneDecksing

     Gene Network CentralTM Interacting Genes and Proteins Network for  KCNH4 


    5/75 Interacting proteins for KCNH4 (ENSP000002646613) via UniProtKB, MINT, and/or STRING (see all 75 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK1ENSP000002158323STRING (score=.995)
    MAPK8ENSP000003632913STRING (score=.986)
    SRFENSP000002653543STRING (score=.981)
    EP300ENSP000002632533STRING (score=.971)
    EGR1ENSP000002399383STRING (score=.953)
    About this table

    4 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160 two-component signal transduction system (phosphorelay) IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006811 ion transport IEA--
    GO:0006813 potassium ion transport TAS10455180
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Compounds for KCNH4 available from Tocris Bioscience
    CompoundAction CAS number
    AM 92016 hydrochlorideKV channel blocker[178894-81-0]
    KN-93CaM kinase II inhibitor. Also K+ channel blocker (KV)[139298-40-1]
    SG 209K+ channel opener[83440-03-3]
    4-AminopyridineK+ channel blocker[504-24-5]
    About this table



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (KCNH4)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNH4)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_012285

                  Sigma-Aldrich siRNA and siRNA Panels for KCNH4  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNH4  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_012285  

    REFSEQ mRNAs for KCNH4 gene: 

    NM_012285.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_012285  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_012285
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_012285
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_012285 

    Additional cDNA sequence: AB022698.1 

    5 DOTS entries:

    DT.75138552  DT.75144132  DT.75195626  DT.95093587  DT.95146325 

    12 AceView cDNA sequences:

    AB022698 NM_012285 BX091763 BX283895 BM549668 BG758764 BQ447844 AI873041 
    AW084816 AI932262 BE702920 BM013212 

    highest scoring ESTs for KCNH4:

    AB022698 AW084816 NM_012285 AI873041 AI932262 BE702920 BG758764 BM013212 BM549668 BQ447844 

    Unigene Cluster for KCNH4:

    Potassium voltage-gated channel, subfamily H (eag-related), member 4
    Hs.304081  [show with all ESTs]
    Unigene Representative Sequence: AB022698


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000264661  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    KCNH4 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNH4

    1 / 2 / 3

    2 probe-sets matching KCNH4 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    220802_at2, 3 U133-A 1 1.00 1.00 -- -- NM_012285 0.60 1.00 0.82 1

    220802_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GTCTCACTCA

    SOURCE GeneReport for Unigene cluster: Hs.304081

    UniProtKB/Swiss-Prot: KCNH4_HUMAN, Q9UQ05
    Tissue specificity: Detected only in brain, in particular in the telencephalon. Detected in putamen
    and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for KCNH4 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNH41   -- potassium voltage-gated channel, subfamily H (eag-related), more 91.38(n)
    92.72(a)
    607649  XM_844412.1  XP_849505.1 
    chimpanzee
    (Pan troglodytes)
    KCNH41   -- potassium voltage-gated channel, subfamily H (eag-related), more 99.57(n)
    99.61(a)
    742588  XM_001166613.1  XP_001166613.1 
    rat
    (Rattus norvegicus)
    Kcnh41   -- potassium voltage-gated channel, subfamily H (eag-related), more 86.77(n)
    89.85(a)
    114032  NM_053630.1  NP_446082.1 
    mouse
    (Mus musculus)
    Kcnh41, 5 11 (61.30 cM)5
    potassium voltage-gated channel, subfamily H (eag-related), more1, 5 87.35(n)1
    89.97(a)1
    3807281  NM_001081194.11  NP_001074663.11 
     AL5914665  AL5914695  (see all 11)
    chicken
    (Gallus gallus)
    KCNH41   -- potassium voltage-gated channel, subfamily H (eag-related), more 71.46(n)
    70.04(a)
    772091  XM_001235279.1  XP_001235280.1 
    About this table        Species with no ortholog for KCNH4

    ENSEMBL Gene Tree for KCNH4
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNH4 gene
    KCNH32  KCNH82  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/104 NCBI SNPs in KCNH4 are shown (see all 104 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 33)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs98969751,2
    A37586989(+) GCGCGC/GCGTCC 1 -- ng310--------
    --
    rs99130891,2
    A37588009(+) CCTCCC/TTAGTA 1 -- ng310--------
    rs9398811,2
    A,C,F,H37575778(+) CGCCGC/TGATGG 1 S/S syn1 ese317Minor allele frequency- N:0.00MN EU EA WA NA 1654
    rs99125761,2
    A,C,F,H37572260(+) GCTGCA/GTGTAC 1 -- int112Minor allele frequency- G:0.28EU EA WA 1258
    rs22931531,2
    A,F,H37581569(-) CCTGGT/CGGGTC 1 -- int15Minor allele frequency- C:0.07EA EU WA 1914
    rs37859011,2
    C,F,H37585682(+) TTTCCG/TCCCTC 1 -- int17Minor allele frequency- T:0.06NA EU EA WA 554
    rs116521071,2
    C,H37569818(+) GGAGTC/ATTTTG 1 -- int14Minor allele frequency- A:0.00EU EA WA 418
    --
    rs99131301,2
    A37579734(+) ctaatA/Ctcctg 1 -- int10--------
    --
    rs99139631,2
    A37572842(+) gtctcA/Gctctg 1 -- int10--------
    --
    rs116529901,2
    C37570303(+) atggcA/Gccact 1 -- int10--------
    About this table

    HapMap Linkage Disequilibrium images for KCNH4 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 604528

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/13 PubMed articles for KCNH4 gene (see all 13 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 23415 HGNC: 6253 AceView: KCNH4 Ensembl:ENSG00000089558 euGenes: HUgn23415
    ECgene: KCNH4 H-InvDB: KCNH4
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for KCNH4:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for KCNH4 Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for KCNH4 Browse small molecules at Sigma-Aldrich
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     Search Novus for antibodies for KCNH4

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