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KCNH8 Gene

protein-coding   GIFtS: 57
GCID: GC03P019165

Potassium Voltage-Gated Channel, Subfamily H (Eag-Related),...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member
81 2
     ELK2
Ether-A-Go-Go-Like Potassium Channel 32 3     Kv12.12
Voltage-Gated Potassium Channel Subunit Kv12.12 3     elk32
ELK12 3     Ether-A-Go-Go-Like Potassium Channel 12
ELK Channel 32 3     Potassium Voltage-Gated Channel Subfamily H Member 82
hElk12 3     ELK33

External Ids:    HGNC: 188641   Entrez Gene: 1310962   Ensembl: ENSG000001839607   OMIM: 6082605   UniProtKB: Q96L423   

Export aliases for KCNH8 gene to outside databases

Previous GC identifers: GC03P018574 GC03P018804 GC03P019040


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNH8 Gene:
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)

GeneCards Summary for KCNH8 Gene:
KCNH8 (potassium voltage-gated channel, subfamily H (eag-related), member 8) is a protein-coding gene. Diseases associated with KCNH8 include neuronitis, and malaria. GO annotations related to this gene include phosphorelay sensor kinase activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward
rectifying current. Channel properties may be modulated by cAMP and subunit assembly

summary for KCNH8 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNH8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNH8 gene promoter:
         AP-2alpha isoform 3   AML1a   p300   NRSF form 1   AP-2alpha isoform 2   HNF-3beta   NRSF form 2   Evi-1   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNH8 promoter sequence
   Search Chromatin IP Primers for KCNH8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNH8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p24.3   Ensembl cytogenetic band:  3p24.3   HGNC cytogenetic band: 3p24.3

KCNH8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNH8 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P019165:  view genomic region     (about GC identifiers)

Start:
19,189,946 bp from pter      End:
19,577,138 bp from pter
Size:
387,193 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 8  
Size: 1107 amino acids; 123804 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
Secondary accessions: Q59GQ6

Explore the universe of human proteins at neXtProt for KCNH8: NX_Q96L42

Explore proteomics data for KCNH8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn320, Asn409
  • Modification sites at PhosphoSitePlus

  • See KCNH8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_653234.2  
    ENSEMBL proteins: 
     ENSP00000328813   ENSP00000412141   ENSP00000446294  
    Reactome Protein details: Q96L42

    KCNH8 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv12.1
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 9):
     IPR003950 K_chnl_volt-dep_ELK
     IPR018490 cNMP-bd-like
     IPR005821 Ion_trans_dom
     IPR000595 cNMP-bd_dom
     IPR001610 PAC

    Graphical View of Domain Structure for InterPro Entry Q96L42

    ProtoNet protein and cluster: Q96L42

    Selected Blocks protein domains (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: KCNH8_HUMAN, Q96L42
    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) (TC 1.A.1.20) subfamily. Kv12.1/KCNH8 sub-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


    KCNH8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNH8_HUMAN, Q96L42
    Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward
    rectifying current. Channel properties may be modulated by cAMP and subunit assembly

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155phosphorelay sensor kinase activity IEA--
    GO:0000166nucleotide binding ----
    GO:0004871signal transducer activity ----
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity IBA--
         
    KCNH8 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNH8:
     Decreased BPV1 E2 protein expr  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNH8
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    miRNA
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    miRTarBase miRNAs that target KCNH8:
    hsa-mir-335-5p (MIRT019154)

    Block miRNA regulation of human, mouse, rat KCNH8 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KCNH8 (see all 56):
    hsa-miR-579 hsa-miR-4291 hsa-miR-4307 hsa-miR-193a-3p hsa-miR-199a-3p hsa-miR-485-3p hsa-miR-301a hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidKCNH8 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KCNH8_HUMAN, Q96L42: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IBA--
    GO:0016020membrane ----

    KCNH8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KCNH8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNH8
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNH8
        Voltage gated Potassium channels



    KCNH8 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNH8
    Interactions:

        GeneGlobe Interaction Network for KCNH8

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNH8 (ENSP000003288134) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNA10ENSP000003587864STRING: ENSP00000358786
    KCNA3ENSP000003587844STRING: ENSP00000358784
    KCNA4ENSP000003285114STRING: ENSP00000328511
    KCNA5ENSP000002523214STRING: ENSP00000252321
    KCNA6ENSP000002806844STRING: ENSP00000280684
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160phosphorelay signal transduction system ----
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006811ion transport ----
    GO:0007165signal transduction ----
    GO:0007268synaptic transmission TAS--

    KCNH8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNH8 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    1 HMDB Compound for KCNH8    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    1 IUPHAR Ligand for KCNH8 (Kv12.1)    About this table
    LigandTypeActionAffinityPubmed IDs
    Ba2+
    Pore BlockerNone3.712890647

    1 Novoseek inferred chemical compound relationship for KCNH8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 27 1 12890647 (1)



    KCNH8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KCNH8 gene: 
    NM_144633.2  

    Unigene Cluster for KCNH8:

    Potassium voltage-gated channel, subfamily H (eag-related), member 8
    Hs.475656  [show with all ESTs]
    Unigene Representative Sequence: AY053503
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000328405(uc003cbk.1) ENST00000452398(uc011awe.1 uc010hex.1)
    ENST00000475063 ENST00000537696(uc011awf.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KCNH8 (see all 56):
    hsa-miR-579 hsa-miR-4291 hsa-miR-4307 hsa-miR-193a-3p hsa-miR-199a-3p hsa-miR-485-3p hsa-miR-301a hsa-miR-578
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    Additional mRNA sequence: 

    AB209053.1 AK294417.1 AK294759.1 AK295633.1 AK309034.1 AY053503.1 

    5 DOTS entries:

    DT.426005  DT.120856306  DT.95219980  DT.75168344  DT.92011108 

    9 AceView cDNA sequences:

    BX095864 AI187878 BC031226 BE244277 AY053503 NM_144633 CD637042 CD637044 
    N55423 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH8    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
    SP1:                                -                                                                                 
    SP2:                                                                                                                  


    ECgene alternative splicing isoforms for KCNH8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KCNH8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTAAGGTC
    KCNH8 Expression
    About this image

    KCNH8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNH8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.475656

    UniProtKB/Swiss-Prot: KCNH8_HUMAN, Q96L42
    Tissue specificity: Primarily expressed in the nervous system

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH8

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNH8 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnh81 , 5 potassium voltage-gated channel, subfamily H (eag-related), more1, 5 86.95(n)1
    92.64(a)1
      17 (27.37 cM)5
    2114681  NM_001031811.21  NP_001026981.21 
     526027095 
    chicken
    (Gallus gallus)
    Aves KCNH81 potassium voltage-gated channel, subfamily H (eag-related), more 78.96(n)
    84.27(a)
      420648  XM_418747.3  XP_418747.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNH86
    potassium voltage-gated channel, subfamily H (eag-...
    83(a)
    1 ↔ 1
    6(33107899-33304466)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnh81 potassium voltage-gated channel, subfamily H (eag-related), more 72.66(n)
    75.77(a)
      100490406  XM_002932415.2  XP_002932461.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnh81 potassium voltage-gated channel, subfamily H (eag-related), more 67.2(n)
    72.89(a)
      100002967  XM_001922560.3  XP_001922595.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta elk6
    eag-like K[+] channel
    37(a)
    1 → many
    2R(13761452-13813097)


    ENSEMBL Gene Tree for KCNH8 (if available)
    TreeFam Gene Tree for KCNH8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNH8 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  
    KCNH12  
    6 SIMAP similar genes for KCNH8 using alignment to 3 protein entries:     KCNH8_HUMAN (see all proteins):
    KCNH2    KCNH4    KCNH3    KCNH1    KCNH5    KCNH6

    KCNH8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KCNH8 (see all 7218)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs796841571,2
    C,F--19188029(+) GGCCCT/AACAGT 1 -- us2k12Minor allele frequency- A:0.11CSA WA 119
    rs130592431,2
    C,F,H--19188153(+) ATTTTC/TTGGGA 1 -- us2k15Minor allele frequency- T:0.06NS 1056
    rs130593881,2
    H--19188221(+) CAAGAC/TTGAGC 1 -- us2k12Minor allele frequency- T:0.00NS 232
    rs1502228351,2
    C--19188230(+) CCACA-/TTAGCC 1 -- us2k10--------
    rs755059361,2
    C,F--19188248(+) GTTGCG/CATCGG 1 -- us2k12Minor allele frequency- C:0.10CSA WA 119
    rs1498203231,2
    --19188255(+) TCGGCC/TCGCCG 1 -- us2k10--------
    rs1896972281,2
    --19188656(+) GAAGCC/TCCAAC 1 -- us2k10--------
    rs119223301,2
    C,F,H--19188805(+) CCTTTC/TCTTCC 1 -- us2k1 trp311Minor allele frequency- T:0.14NS NA CSA WA 1416
    rs731807941,2
    C,F--19188870(+) TCCCTT/ACCACA 1 -- us2k13Minor allele frequency- A:0.12WA CSA 122
    rs731807961,2
    C,F--19188980(+) AGAACG/ATTGGC 1 -- us2k11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for KCNH8 (19189946 - 19439946 bp, first 250kb of KCNH8)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNH8 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724996CNV Deletion23290073
    esv2657193CNV Deletion23128226
    esv1965258CNV Deletion18987734
    esv2724997CNV Deletion23290073
    nsv3717CNV Insertion18451855
    nsv876595CNV Loss21882294
    nsv524040CNV Loss19592680
    nsv3718CNV Loss18451855
    nsv517847CNV Gain19592680
    nsv433358CNV Gain18776910

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNH8
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNH8

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608260    OMIM disorders: --

    2 diseases for KCNH8:    About MalaCards
    neuronitis    malaria


    KCNH8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNH8
    Human Genome Epidemiology (HuGE) Navigator: KCNH8 (4 documents)

    Export disorders for KCNH8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KCNH8 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with KCNH8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Distribution and functional properties of human KCNH8 (Elk1) potassium channels. (PubMed id 12890647)1, 2, 9 Zou A.... Wickenden A.D. (Am. J. Physiol. 2003)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PubMed id 17903296)1, 4 Kiel D.P....Karasik D. (BMC Med. Genet. 2007)
    4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
    5. A novel membrane potential-sensitive fluorescent dye improves cell- based assays for ion channels. (PubMed id 11897058)1, 2 Baxter D.F.... Xie Y. (J. Biomol. Screen. 2002)
    6. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    7. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
    8. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    9. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 131096 HGNC: 18864 AceView: KCNH8.1 Ensembl:ENSG00000183960 euGenes: HUgn131096
    ECgene: KCNH8 H-InvDB: KCNH8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KCNH8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNH8 gene:
    Search GeneIP for patents involving KCNH8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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