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KCNH5 Gene

protein-coding   GIFtS: 57

GC14M062243
potassium voltage-gated channel, subfamily H (eag-related), member 5
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
EAG2 2, 3
H-EAG2 1, 2
Kv10.2 1, 2
eag2 1
hEAG2 3
Descriptions
Ether-a-go-go potassium channel 2 3
Voltage-gated potassium channel subunit Kv10.2 3
ether-a-go-go-related potassium channel 2 2
potassium channel HEAG2 2
potassium voltage-gated channel, subfamily H (eag-related),
member 5 2
potassium voltage-gated channel, subfamily H, member 5 2
voltage-gated potassium channel EAG2 2
External Ids
HGNC: 62541
Entrez Gene: 271332
UniProtKB: Q8NCM23
Ensembl: ENSG000001400157
Search outside databases for aliases for KCNH5 gene

Previous GC identifers: GC14M060501 GC14M056967 GC14M061163

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for KCNH5:
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 of a voltage-gated non-inactivating delayed rectifier potassium channel. This gene is not
expressed in differentiating myoblasts. Alternative splicing results in three transcript variants
encoding distinct isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: KCNH5_HUMAN, Q8NCM2
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a
non-inactivating outward rectifying current. 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 KCNH5 gene  

Entrez Gene cytogenetic band: 14q23.1   Ensembl cytogenetic band:  14q23.2   HGNC cytogenetic band: 14q23.1

KCNH5 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 14         GeneLoc Exon Structure

GeneLoc location for GC14M062243:     (about GC identifiers)

Start:
62,243,052 bp from pter
End:
62,638,337 bp from pter
Size:
395,286 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  
(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)
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UniProtKB/Swiss-Prot: KCNH5_HUMAN, Q8NCM2 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 5  
Size: 988 amino acids; 111907 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. Heteromultimer with
KCNH1/EAG (Probable)
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAC11016.1; Type=Erroneous termination; Positions=436; Note=Translated
as Gly;
Alternative splicing: 3 isoforms:  Q8NCM2-1   Q8NCM2-2   Q8NCM2-3   (Experimental confirmation may be lacking for some isoforms)

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (3 alternative transcripts): 
    NP_647479.2  NP_758963.1  NP_758964.1  


    ENSEMBL proteins: 
    ENSP00000378419 ENSP00000378415 ENSP00000321427 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KCNH5)
    Browse Abnova for Human Recombinant Proteins
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for KCNH5: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of KCNH5
    Sigma-Aldrich Antibodies for KCNH5
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KCNH5), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for KCNH5

    Assays for KCNH5: 
    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 ):
     IPR003949 K_chnl_volt-dep_EAG
     IPR018488 cNMP_bd_CS
     IPR005821 Ion_trans
     IPR000595 cNMP_bd
     IPR001610 PAC


       GeneDecks  KCNH5 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8NCM2

    ProtoNet protein and cluster: Q8NCM2

    5/7 Blocks protein families (see all 7 ):
    IPB000014 PAS domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001610 PAC motif
    IPB003938 EAG/ELK/ERG potassium channel family signature
    IPB003949 EAG potassium channel signature


    UniProtKB/Swiss-Prot: KCNH5_HUMAN, Q8NCM2
    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 (KCNH5)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNH5)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_172375

                  Applied Biosystems Silencer® siRNAs for KCNH5

                  Sigma-Aldrich siRNA and siRNA Panels for KCNH5  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNH5  
                         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 clones in CMV expression vector (see all 3): NM_139318
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_139318
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_139318 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_139318

    UniProtKB/Swiss-Prot: KCNH5_HUMAN, Q8NCM2
    Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a
    non-inactivating outward rectifying current. Channel properties may be modulated by cAMP and
    subunit assembly

    Genatlas biochemistry entry for KCNH5:
    potassium voltage-gated channel, subfamily H (eag-related), member 5

    2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kcnh5):

    behavior/neurologicalhearing/vestibular/ear

    5 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 IEA--
    GO:0005516 calmodulin binding IEA--
    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 KCNH5
      outward current

       GeneDecks  KCNH5 for the pathways selected above  
    About GeneDecksing

      --

    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 IEA--
    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 KCNH5 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


    1 Novoseek chemical compound relationship for KCNH5 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 36.08 1 11943152 (1)
    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 (KCNH5)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KCNH5)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_172375

                  Sigma-Aldrich siRNA and siRNA Panels for KCNH5  
                         Sigma-Aldrich shRNA Panels and shRNA for KCNH5  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_139318  NM_172375  NM_172376  

    REFSEQ mRNAs for KCNH5 gene (3 alternative transcripts): 

    NM_139318.3   NM_172375.1   NM_172376.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_139318  NM_172375  NM_172376  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_139318
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_139318
                                     untagged cDNA clones in CMV expression vector (see all 5): NM_139318 

    Additional cDNA sequence: 

    AF418206.1 AF472412.1 AF493798.1 BC043409.2 BC073979.1 

    4 DOTS entries:

    DT.100018940  DT.100018941  DT.97819289  DT.100741448 

    19 AceView cDNA sequences:

    AF493798 NM_172375 BC073979 NM_172376 F05455 AF418206 Z38438 NM_139318 
    AW628656 F01716 AF472412 CD636893 BC043409 F05456 BX281706 U69185 
    AK074484 CD636891 BQ439615 

    highest scoring ESTs for KCNH5:

    AF418206 AF472412 AF493798 BC043409 BQ439615 BX281706 U69185 AK074484 AW628656 BC073979 

    Unigene Cluster for KCNH5:

    Potassium voltage-gated channel, subfamily H (eag-related), member 5
    Hs.27043  [show with all ESTs]
    Unigene Representative Sequence: BC073979


    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH5

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
    SP1:              -     -                                         -                                       
    SP2:                                                              -                       -               
    SP3:                                                              -                 -     -               
    SP4:              -     -                                                                                 

    About this scheme

    ECgene alternative splicing isoforms for KCNH5

    3 Ensembl transcripts including schematic representations:
    ENST00000394968  ENST00000394964  ENST00000322893  
    (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

    KCNH5 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for KCNH5

    1 / 2 / 3

    5 probe-sets matching KCNH5 gene


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

    47008_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 U69185 0.80 1.00 0.91 1

    242502_at2, 3 U133-B 1 1.00 1.00 -- -- AW628656 0.60 1.00 0.82 1

    242502_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1555074_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1555304_a_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: TCAGGATATT

    SOURCE GeneReport for Unigene cluster: Hs.27043

    UniProtKB/Swiss-Prot: KCNH5_HUMAN, Q8NCM2
    Tissue specificity: Detected in brain, skeletal muscle, heart, placenta, lung and liver, and at low
    levels in kidney

    (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 KCNH5 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    KCNH51   -- potassium voltage-gated channel, subfamily H (eag-related), more 93.86(n)
    99.09(a)
    490724  XM_547846.2  XP_547846.2 
    chimpanzee
    (Pan troglodytes)
    KCNH51   -- potassium voltage-gated channel, subfamily H (eag-related), more 99.59(n)
    99.8(a)
    467476  XM_522873.2  XP_522873.2 
    cow
    (Bos taurus)
    KCNH51   -- potassium voltage-gated channel, subfamily H (eag-related), more 93.72(n)
    99.09(a)
    537813  XM_864922.2  XP_870015.1 
    rat
    (Rattus norvegicus)
    Kcnh51   -- potassium voltage-gated channel, subfamily H (eag-related), more 91.4(n)
    98.28(a)
    171146  NM_133610.1  NP_598294.1 
    mouse
    (Mus musculus)
    Kcnh51, 5 125
    potassium voltage-gated channel, subfamily H (eag-related), more1, 5 91.33(n)1
    97.98(a)1
    2382711  NM_172805.21  NP_766393.11 
     AF3095655  AK0324385  (see all 6)
    About this table        Species with no ortholog for KCNH5

    ENSEMBL Gene Tree for KCNH5
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for KCNH5 gene
    KCNH12  

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


    10/1932 NCBI SNPs in KCNH5 are shown (see all 1932 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 670)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 14 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs71611271,2
    A,C,F,H62244369(+) GTTTTC/TCTTAG 2 R/R syn1 ut318Minor allele frequency- T:0.08NA EU EA WA 640
    rs111584481,2
    A,C,F,H62248823(+) TCACTC/TCCACA 3 -- int1 ut3111Minor allele frequency- T:0.42NA EU EA WA 972
    rs49021761,2
    A,C,F,H62244713(+) GGAGGC/TTCCAT 2 A/T mis1 ut31 ese312Minor allele frequency- T:0.22NA EU EA WA 1050
    rs111584471,2
    A,C,F,H62248747(+) TTATTA/TTACTT 3 -- int1 ut314Minor allele frequency- T:0.12EU EA WA 410
    rs124353811,2
    A,C,F,H62249086(+) GACTCC/TGTGAA 3 -- ut31 int111Minor allele frequency- T:0.32NA EU EA WA 978
    rs71413531,2
    A,C,F,H62248388(+) TGGACA/GTGACT 3 -- int1 ng517Minor allele frequency- G:0.10NA EU EA WA 560
    rs111584731,2
    A,C,F,H62639050(+) TTACAA/GCATAA 1 -- ng3111Minor allele frequency- G:0.45EU EA WA NA 928
    rs171774221,2
    C,F,H62638881(+) GTTGGA/CGTGTC 1 -- ng317Minor allele frequency- C:0.42NA EU EA WA 550
    rs19566721,2
    A,C62582884(-) CCTGCC/TCCACC 3 -- int1 ng310--------
    --
    rs101329851,2
    A,C62583259(+) CCTCTC/TTTCTC 3 -- int1 ng31 tfbs3 trp30--------
    About this table

    HapMap Linkage Disequilibrium images for KCNH5 (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: 605716

    (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

    10/14 PubMed articles for KCNH5 gene (see all 14 ):
    (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: 27133 HGNC: 6254 AceView: KCNH5 Ensembl:ENSG00000140015 euGenes: HUgn27133
    ECgene: KCNH5 H-InvDB: KCNH5
    (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 KCNH5:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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