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KCNH6 Gene

protein-coding   GIFtS: 61
GCID: GC17P061600

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
61 2
     Kv11.22
Ether-A-Go-Go-Related Protein 22 3     Eag-Related Gene Member 22
Voltage-Gated Potassium Channel Subunit Kv11.22 3     Potassium Voltage-Gated Channel Subfamily H Member 62
ERG-22 3     Eag-Related Protein 23
ERG22 3     Ether-A-Go-Go-Related Gene Potassium Channel 23
hERG-22 3     hERG23
HERG22 5     

External Ids:    HGNC: 188621   Entrez Gene: 810332   Ensembl: ENSG000001738267   OMIM: 6081685   UniProtKB: Q9H2523   

Export aliases for KCNH6 gene to outside databases

Previous GC identifers: GC17P061251 GC17P064027 GC17P061941 GC17P062074 GC17P058954 GC17P056966


(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 KCNH6 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. Alternative splicing results in multiple transcript variants that encode different
isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for KCNH6 Gene:
KCNH6 (potassium voltage-gated channel, subfamily H (eag-related), member 6) is a protein-coding gene. Diseases associated with KCNH6 include crohn's disease, and lymphoblastic leukemia. GO annotations related to this gene include voltage-gated potassium channel activity and signal transducer activity. An important paralog of this gene is KCNH3.

UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying
current (By similarity). Channel properties may be modulated by cAMP and subunit assembly

summary for KCNH6 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 KCNH6 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_000017.11  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNH6 gene promoter:
         CREB   RFX1   POU2F1   POU2F1a   COMP1   NRSF form 1   NRSF form 2   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNH6 promoter sequence
   Search Chromatin IP Primers for KCNH6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNH6


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

Entrez Gene cytogenetic band: 17q23.3   Ensembl cytogenetic band:  17q23.3   HGNC cytogenetic band: 17q23.3

KCNH6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNH6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P061600:  view genomic region     (about GC identifiers)

Start:
61,600,695 bp from pter      End:
61,626,338 bp from pter
Size:
25,644 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 6  
Size: 994 amino acids; 109925 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. Heteromultimers with KCNH2/ERG1 and KCNH7/ERG3 (By
similarity)
Secondary accessions: Q9BRD7
Alternative splicing: 3 isoforms:  Q9H252-1   Q9H252-2   Q9H252-3   

Explore the universe of human proteins at neXtProt for KCNH6: NX_Q9H252

Explore proteomics data for KCNH6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys238
  • Glycosylation2 at Asn449
  • Modification sites at PhosphoSitePlus

  • See KCNH6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001265848.1  NP_001265849.1  NP_110406.1  NP_775115.1  

    ENSEMBL proteins: 
     ENSP00000463830   ENSP00000464672   ENSP00000462417   ENSP00000318212   ENSP00000463533  
     ENSP00000396900  
    Reactome Protein details: Q9H252

    KCNH6 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: Kv11.2
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 8):
     IPR018490 cNMP-bd-like
     IPR005821 Ion_trans_dom
     IPR003967 K_chnl_volt-dep_ERG
     IPR000595 cNMP-bd_dom
     IPR001610 PAC

    Graphical View of Domain Structure for InterPro Entry Q9H252

    ProtoNet protein and cluster: Q9H252

    Selected Blocks protein domains (see all 7):
    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: KCNH6_HUMAN, Q9H252
    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. Kv11.2/KCNH6 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


    KCNH6 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: KCNH6_HUMAN, Q9H252
    Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, rectifying
    current (By similarity). Channel properties may be modulated by cAMP and subunit assembly

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity IBA--
         
    KCNH6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNH6:
     Synthetic lethal with cisplati 

         1 MGI phenotypic allele for Kcnh6 (no phenotypes)

    KCNH6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnh6tm1Lex for KCNH6

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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
    KCNH6_HUMAN, Q9H252: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IBA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    KCNH6 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 KCNH6 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
    3Potassium transporters inward current
    Potassium transporters inward current
    4Dopamine-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 KCNH6
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNH6
        Voltage gated Potassium channels



    KCNH6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNH6: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KCNH6

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

    Selected Interacting proteins for KCNH6 (ENSP000003182124) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNA6ENSP000002806844STRING: ENSP00000280684
    KCNA7ENSP000002214444STRING: ENSP00000221444
    KCNB1ENSP000003608064STRING: ENSP00000360806
    KCNC1ENSP000002659694STRING: ENSP00000265969
    KCNC2ENSP000003769664STRING: ENSP00000376966
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006811ion transport ----
    GO:0007165signal transduction ----
    GO:0007268synaptic transmission TAS--
    GO:0042391regulation of membrane potential IBA--

    KCNH6 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
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      Browse compounds at ApexBio 

    Compounds for KCNH6 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 KCNH6    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    5 DrugBank Compounds for KCNH6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    IbutilideIbutilida [INN-Spanish] (see all 3)122647-32-9targetinhibitor15926871 9257085
    Miconazole-- 22916-47-8targetinhibitor8760033 15778703
    DoxazosinDoxazosin mesilate (see all 2)74191-85-8targetinhibitor15098086
    PrazosinPrazocin (see all 6)19216-56-9targetinhibitor15098086
    TerazosinAbbott 45975 (see all 8)63590-64-7targetinhibitor15098086

    1 IUPHAR Ligand for KCNH6 (Kv11.2)    About this table
    LigandTypeActionAffinityPubmed IDs
    NS1643
    ActivatorNone4.917610913

    3 Novoseek inferred chemical compound relationships for KCNH6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ergosterol 75.5 1 11353609 (1)
    sterol 69.6 2 15855491 (1), 16033255 (1)
    squalene 62.9 1 15328107 (1)



    KCNH6 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,
    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 KCNH6 gene (4 alternative transcripts): 
    NM_001278919.1  NM_001278920.1  NM_030779.3  NM_173092.2  

    Unigene Cluster for KCNH6:

    Potassium voltage-gated channel, subfamily H (eag-related), member 6
    Hs.591177  [show with all ESTs]
    Unigene Representative Sequence: NM_030779
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000581784(uc002jaz.1) ENST00000580652(uc002jax.1) ENST00000583465
    ENST00000314672 ENST00000583023(uc002jay.3 uc010wpl.2 uc010wpm.2)
    ENST00000456941
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    Additional mRNA sequence: 

    AF311913.1 AK090969.1 AK091877.1 AK296498.1 AK298363.1 BC006334.2 

    4 DOTS entries:

    DT.92001686  DT.40246903  DT.91740938  DT.91853909 

    Selected AceView cDNA sequences (see all 25):

    NM_173092 BU170580 NM_030779 AF311913 H96171 BM561167 BG395842 AX746709 
    CD632739 BF685466 BC006334 CD632735 AK090969 CD632729 CD632731 BM461490 
    CD632727 AK091877 AX747233 CD632733 AA908657 BE465143 BE672839 AI699256 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH6    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:                                                        -                                   -                       -         
    SP2:                                                        -                                                                     
    SP3:                                                                                            -                                 
    SP4:                                                                                                                              


    ECgene alternative splicing isoforms for KCNH6

    (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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    KCNH6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGGACAGT
    KCNH6 Expression
    About this image


    KCNH6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
    KCNH6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNH6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591177

    UniProtKB/Swiss-Prot: KCNH6_HUMAN, Q9H252
    Tissue specificity: Expressed in prolactin-secreting adenomas

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNH6: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH6

    (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 chordates.

    Orthologs for KCNH6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnh61 , 5 potassium voltage-gated channel, subfamily H (eag-related), more1, 5 87.51(n)1
    90.74(a)1
      11 (68.87 cM)5
    1927751  NM_001037712.11  NP_001032801.11 
     1060081245 
    chicken
    (Gallus gallus)
    Aves KCNH61 potassium voltage-gated channel, subfamily H (eag-related), more 76.3(n)
    75.41(a)
      414871  XM_004948533.1  XP_004948590.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    66(a)
    many ↔ many
    6(60982089-61144436)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004851211 potassium voltage-gated channel subfamily H member more 69.03(n)
    72.14(a)
      100485121  XM_002937994.2  XP_002938040.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnh61 potassium voltage-gated channel, subfamily H (eag-related), more 67.99(n)
    68.49(a)
      405763  NM_212837.1  NP_998002.1 


    ENSEMBL Gene Tree for KCNH6 (if available)
    TreeFam Gene Tree for KCNH6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNH6 gene
    KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  CNGA22  
    HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    7 SIMAP similar genes for KCNH6 using alignment to 3 protein entries:     KCNH6_HUMAN (see all proteins):
    KCNH2    KCNH8    KCNH5    KCNH1    KCNH7    KCNH4
    KCNH3

    KCNH6 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 KCNH6 (see all 693)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422290251,2
    --61598714(+) GCTCTA/GTAAGA 2 -- us2k10--------
    rs1507116651,2
    --61598800(+) GGAAAA/GTGATG 2 -- us2k10--------
    rs1394856811,2
    C--61598822(+) TGAATC/GAATGA 2 -- us2k10--------
    rs1451176261,2
    --61598904(+) AGCCCC/TTTCTT 2 -- us2k10--------
    rs1996946271,2
    C--61598911(+) TCTTTC/TCCTCC 2 -- us2k10--------
    rs1475999671,2
    --61598948(+) AGCCAC/GGACAT 2 -- us2k10--------
    rs1476696851,2
    C--61599028(+) GACAA-/ACACACA 2 -- us2k10--------
    rs1852415041,2
    --61599031(+) AAACAA/CACATC 2 -- us2k10--------
    rs1425368731,2
    C--61599149(+) ATATTC/TCTTTC 2 -- us2k10--------
    rs1908831201,2
    --61599185(+) TGTTCA/TTCAAT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNH6 (61600695 - 61626338 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KCNH6:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675657CNV Deletion23128226
    nsv507852CNV Insertion20534489
    nsv908683CNV Loss21882294

    Human Gene Mutation Database (HGMD): KCNH6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNH6
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNH6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608168    OMIM disorders: --

    11 diseases for KCNH6:    
    About MalaCards
    crohn's disease    lymphoblastic leukemia    chronic lymphocytic leukemia    neuropathy
    adenoma    schizophrenia    leukemia    neuronitis
    prostate cancer    prostatitis    pancreatitis


    KCNH6 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: KCNH6 (1 document)

    Export disorders for KCNH6 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 KCNH6 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with KCNH6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. HERG K(+) currents in human prolactin-secreting adenoma cells. (PubMed id 12634931)1, 2, 9 Bauer C.K.... Schwarz J.R. (Pflugers Arch. 2003)
    2. 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)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (PLoS Genet. 2012)
    6. Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (Haematologica 2011)
    7. A strategy for precise and large scale identification of core fucosylated glycoproteins. (PubMed id 19139490)2 Jia W.... Qian X.H. (Mol. Cell. Proteomics 2009)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Ibutilide--recent molecular insights and accumulating evidence for use in atrial flutter and fibrillation. (PubMed id 15926871)7 Doggrell S.A. and Hancox J.C. (Expert Opin Investig Drugs 2005)
    10. Blockade of HERG cardiac K+ current by antifungal drug miconazole. (PubMed id 15778703)7 Kikuchi K....Nakashima Y. (Br. J. Pharmacol. 2005)

    (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: 81033 HGNC: 18862 AceView: KCNH6 Ensembl:ENSG00000173826 euGenes: HUgn81033
    ECgene: KCNH6 H-InvDB: KCNH6

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for KCNH6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KCNH6 gene:
    Search GeneIP for patents involving KCNH6

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



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