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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNH1 Gene

protein-coding   GIFtS: 63
GCID: GC01M210851

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)
About This Section

Aliases
Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member
11 2
     h-eag2 3
EAG2 3 5     hEAG12 3
Ether-A-Go-Go Potassium Channel 12 3     Kv10.12
Voltage-Gated Potassium Channel Subunit Kv10.12 3     Ether-A-Go-Go, Drosophila, Homolog Of2
EAG12 3     Potassium Voltage-Gated Channel Subfamily H Member 12
EAG Channel 12 3     

External Ids:    HGNC: 62501   Entrez Gene: 37562   Ensembl: ENSG000001434737   OMIM: 6033055   UniProtKB: O952593   

Export aliases for KCNH1 gene to outside databases

Previous GC identifers: GC01M209587 GC01M206691 GC01M207495 GC01M207935 GC01M207244 GC01M208923 GC01M181528


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

Entrez Gene summary for KCNH1 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 of a voltage-gated non-inactivating delayed rectifier potassium channel. It is
activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts.
Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation.
Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. (provided by
RefSeq, Jul 2008)

GeneCards Summary for KCNH1 Gene: 
KCNH1 (potassium voltage-gated channel, subfamily H (eag-related), member 1) is a protein-coding gene. Diseases associated with KCNH1 include pernicious anemia, and long qt syndrome, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include calmodulin binding and phosphorelay sensor kinase activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259
Function: Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifier potassium channel.
Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts

summary for KCNH1 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 KCNH1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNH1 gene promoter:
         HOXA3   FOXF2   FOXO3b   C/EBPalpha   S8   SRY   FOXJ2 (long isoform)   FOXO4   FOXO3a   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNH1


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

Entrez Gene cytogenetic band: 1q32.2   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32.2

KCNH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNH1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M210851:  view genomic region     (about GC identifiers)

Start:
210,851,657 bp from pter      End:
211,307,457 bp from pter
Size:
455,801 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 1  
Size: 989 amino acids; 111423 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 KCNH5/EAG2. Interacts with ALG10B
(By similarity)
Subcellular location: Cell membrane; Multi-pass membrane protein. Nucleus inner membrane; Multi-pass membrane
protein. Note=Perinuclear KCNH1 is located to NPC-free islands
Secondary accessions: B1AQ26 O76035 Q14CL3
Alternative splicing: 2 isoforms:  O95259-1   O95259-2   

Explore the universe of human proteins at neXtProt for KCNH1: NX_O95259

Explore proteomics data for KCNH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95259

  • KCNH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNH1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002229.1  NP_758872.1  

    ENSEMBL proteins: 
     ENSP00000271751   ENSP00000355974  
    Reactome Protein details: O95259
    Human Recombinant Protein Products for KCNH1: 
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    Cloud-Clone Corp. Proteins for KCNH1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005637nuclear inner membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex TAS9738473
    GO:0016020membrane ----

    KCNH1 for ontologies           About GeneDecksing



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

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv10.1 
    Voltage-gated potassium channels

    5/9 InterPro protein domains (see all 9):
     IPR003949 K_chnl_volt-dep_EAG
     IPR018490 cNMP-bd-like
     IPR005821 Ion_trans_dom
     IPR000595 cNMP-bd_dom
     IPR001610 PAC

    Graphical View of Domain Structure for InterPro Entry O95259

    ProtoNet protein and cluster: O95259

    5/6 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
    IPB003949 EAG potassium channel signature


    UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259
    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. Kv10.1/KCNH1 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


    KCNH1 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNH1_HUMAN, O95259
    Function: Pore-forming (alpha) subunit of voltage-gated non-inactivating delayed rectifier potassium channel.
    Channel properties may be modulated by cAMP and subunit assembly. Mediates IK(NI) current in myoblasts

         Genatlas biochemistry entry for KCNH1:
    potassium voltage-gated channel,Drosophila ether-a-go-go (eag)-related subfamily H,expressed in myoblasts at the
    onset of fusion and in adult brain tissue,similar to the non-inactivating delayed rectified potassium channel
    (I(K(NI))

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155phosphorelay sensor kinase activity IEA--
    GO:0004871signal transducer activity ----
    GO:0005216ion channel activity ----
    GO:0005251delayed rectifier potassium channel activity TAS9738473
    GO:0005515protein binding IPI10880439
         
    KCNH1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnh1):
     behavior/neurological  nervous system 

    KCNH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KCNH1: Kcnh1tm1.1Ruf Kcnh1tm1Lex

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNH1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters: outward current0.42
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.67
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNH1
        Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNH1
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3        Reactome Pathways for KCNH1
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels



    KCNH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNH1

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

    5/52 Interacting proteins for KCNH1 (O952591, 2, 3 ENSP000002717514) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM2P621581, 2, 3EBI-2909270,EBI-397435 MINT-7988123 MINT-7988100 I2D: score=3 
    CALM3P621581, 2, 3EBI-2909270,EBI-397435 MINT-7988123 MINT-7988100 I2D: score=3 
    CALM1P621581, 2, 3, ENSP000003494674EBI-2909270,EBI-397435 MINT-7988123 MINT-7988100 I2D: score=3 STRING: ENSP00000349467
    KCNF1Q9H3M03, ENSP000002950824I2D: score=2 STRING: ENSP00000295082
    KCNC1P485473, ENSP000002659694I2D: score=1 STRING: ENSP00000265969
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000160phosphorelay signal transduction system ----
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS9738473
    GO:0007165signal transduction ----

    KCNH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KCNH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNH1 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]

    2 HMDB Compounds for KCNH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    PotassiumK+ (see all 16)7440-09-7--

    10 IUPHAR Ligands for KCNH1 (Kv10.1)    About this table 
    LigandTypeActionAffinityPubmed IDs
    LY97241
    Pore BlockerNone8.312522086
    terfenadine
    Pore BlockerNone7.815102940
    dofetilide
    Pore BlockerNone7.516949586
    astemizole
    Pore BlockerNone6.715365094
    clofilium
    Pore BlockerNone6.612522086
    E4031
    Pore BlockerNone6.412522086
    haloperidol
    Pore BlockerNone6.212522086
    MK-499
    Pore BlockerNone616949586 15102940
    quinidine
    Pore BlockerNone5.811943152
    imipramine
    Pore BlockerNone5.715365094

    2 Novoseek inferred chemical compound relationships for KCNH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 65.3 14 9490815 (2), 10880439 (1), 16478480 (1), 8938715 (1) (see all 9)
    retinoic acid 34.2 3 9490815 (3)

    Search CenterWatch for drugs/clinical trials and news about KCNH1

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KCNH1 gene (2 alternative transcripts): 
    NM_002238.3  NM_172362.2  

    Unigene Cluster for KCNH1:

    Potassium voltage-gated channel, subfamily H (eag-related), member 1
    Hs.553187  [show with all ESTs]
    Unigene Representative Sequence: NM_172362
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000271751 ENST00000367007(uc001hib.2 uc001hic.2)
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    Additional mRNA sequence: 

    AJ001366.1 AK127526.1 BC113709.1 BC143599.1 

    3 DOTS entries:

    DT.95103014  DT.91753863  DT.100008058 

    5 AceView cDNA sequences:

    NM_002238 NM_172362 AJ001366 AF078742 AF078741 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH1    About this scheme

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


    ECgene alternative splicing isoforms for KCNH1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNH1 expression in normal human tissues (normalized intensities)      KCNH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNH1 Expression
    About this image


    KCNH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Choroid Plexus Cells Choroid Plexus
             prefrontal cortex   
     
     Ovary (Reproductive System)
             oocyte   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus

    See KCNH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNH1

    SOURCE GeneReport for Unigene cluster: Hs.553187

    UniProtKB/Swiss-Prot: KCNH1_HUMAN, O95259
    Tissue specificity: Highly expressed in brain and in myoblasts at the onset of fusion, but not in other tissues.
    Detected in HeLa (cervical carcinoma), SH-SY5Y (neuroblastoma) and MCF-7 (epithelial tumor) cells, but not in
    normal epithelial cells

        SABiosciences Expression via Pathway-Focused PCR Array including KCNH1: 
              Neuronal Ion Channels in human mouse rat

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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for KCNH1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnh11 , 5 potassium voltage-gated channel, subfamily H (eag-related), more1, 5 88.67(n)1
    96.99(a)1
      1 (97.33 cM)5
    165101  NM_001038607.11  NP_001033696.11 
     1921907845 
    chicken
    (Gallus gallus)
    Aves KCNH11 potassium voltage-gated channel, subfamily H (eag-related), more 80.7(n)
    93.19(a)
      421381  XM_419440.3  XP_419440.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNH16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    1(237491289-237757502)
    zebrafish
    (Danio rerio)
    Actinopterygii kcnh1a1 potassium voltage-gated channel, subfamily H (eag-related), more 73.47(n)
    83.19(a)
      560568  NM_001044931.1  NP_001038396.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eag1 , 3 courtship behavior voltage-gated
    potassium channel3
    ether a go-go1
    60(a)3
    61.46(n)1
    62.84(a)1
      324281  NM_001201663.11  NP_001188592.11 
    worm
    (Caenorhabditis elegans)
    Secernentea egl-21 , 3 channel protein3
    Protein EGL-21
    57(a)3
    58.48(n)1
    59.22(a)1
      V(1289525-1299037)3
    1786241  NM_071001.31  NP_503402.31 


    ENSEMBL Gene Tree for KCNH1 (if available)
    TreeFam Gene Tree for KCNH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNH1 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA22  
    CNGA12  HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  
    KCNH82  
    7 SIMAP similar genes for KCNH1 using alignment to 2 protein entries:     KCNH1_HUMAN (see all proteins):
    KCNH5    KCNH7    KCNH2    KCNH8    KCNH3    KCNH6
    KCNH4

    KCNH1 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/9182 SNPs in KCNH1 are shown (see all 9182)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3680300511,2
    C--181568716(+) TATAT-/GTATAT 2 -- int10--------
    rs113590761,2
    C--181568718(+) TATGT-/ATATAT 2 -- int10--------
    rs75397051,2
    C,F--181568850(+) tatatT/Gtatat 2 -- int11Minor allele frequency- G:0.00NA 2
    rs1123857011,2
    C--181573634(+) AGGTC-/AAGTCA 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs589088841,2
    C--181577104(+) CCGGC-/A/AGG 
     G
    /AGGGG
    GGGGG
    2 -- int10--------
    rs105356381,2
    C--181604763(+) CCAGC-/CTTCTTCT 2 -- int10--------
    rs611967431,2
    C--181605242(+) CACACAG/-GGGCA 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs339964291,2
    C--181605246(+) ACGGG-/CACA  
            
    cacac
    2 -- int10--------
    rs113772341,2
    C--181605746(+) GCTTAG/-AGATG 2 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs340933651,2
    C--181624075(+) CAGCTC/-AGGTA 2 -- int12Minor allele frequency- -:0.00CSA 4

    HapMap Linkage Disequilibrium report for KCNH1 (210851657 - 211101657 bp, first 250kb of KCNH1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for KCNH1 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2186126CNV Deletion18987734
    esv2722350CNV Deletion23290073
    esv2675602CNV Deletion23128226
    esv2676211CNV Deletion23128226
    esv2570583CNV Deletion19546169
    esv1705029CNV Insertion17803354
    esv1789869CNV Insertion17803354
    nsv506977CNV Insertion20534489
    nsv468083CNV Loss19166990
    nsv4398CNV Loss18451855

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603305    OMIM disorders: --

    20/27 diseases for KCNH1 (see all 27):    About MalaCards
    pernicious anemia    long qt syndrome    soft tissue sarcoma    papilloma
    gastritis    glomerulonephritis    cervicitis    esophageal squamous cell carcinoma
    acute myeloid leukemia    osteosarcoma    cervical cancer    anemia
    sarcoma    esophagitis    myeloid leukemia    squamous cell carcinoma
    colon cancer    neuroblastoma    gastric cancer    schizophrenia


    KCNH1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for KCNH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 2.26 3 19351862 (1), 15365094 (1), 20105281 (1)

    Genetic Association Database (GAD): KCNH1
    Human Genome Epidemiology (HuGE) Navigator: KCNH1 (6 documents)

    Export disorders for KCNH1 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)
    About This Section

    PubMed articles for KCNH1 gene, integrated from 9 sources (see all 73):
    (articles sorted by number of sources associating them with KCNH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion. (PubMed id 9738473)1, 2, 3, 9 Occhiodoro T.... Fischer-Lougheed J. (1998)
    2. Inhibition of human ether a go-go potassium channels by Ca(2+)/calmodulin. (PubMed id 10880439)1, 2, 9 Schoenherr R.... Heinemann S.H. (2000)
    3. Functional K(v)10.1 channels localize to the inner nu clear membrane. (PubMed id 21559285)1, 2 Chen Y....StA1hmer W. (2011)
    4. No association between the KCNH1, KCNJ10 and KCNN3 ge nes and schizophrenia in the Han Chinese population. (PubMed id 20933057)1, 4 Shen Q....He G. (2011)
    5. The response of the QT interval to the brief tachycar dia provoked by standing: a bedside test for diagnosing long QT syndrome. (PubMed id 20116193)1, 4 Viskin S....Wilde A.A. (2010)
    6. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    8. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)
    9. Functional distinction of human EAG1 and EAG2 potassium channels. (PubMed id 11943152)1, 2 Schoenherr R.... Heinemann S.H. (2002)
    10. Oncogenic potential of EAG K(+) channels. (PubMed id 10523298)1, 2 Pardo L.A.... Stuehmer W. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 3756 HGNC: 6250 AceView: KCNH1 Ensembl:ENSG00000143473 euGenes: HUgn3756
    ECgene: KCNH1 H-InvDB: KCNH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KCNH1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KCNH1 gene:
    Search GeneIP for patents involving KCNH1

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



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    About This Section

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