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KCNH7 Gene

protein-coding   GIFtS: 63
GCID: GC02M163191

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
71 2
     HERG32 5
ERG32 3 5     Kv11.32 5
Eag-Related Protein 32 3     Eag Related Protein 32
Ether-A-Go-Go-Related Gene Potassium Channel 32 3     Ether-A-Go-Go Related Gene Potassium Channel 32
Ether-A-Go-Go-Related Protein 32 3     Potassium Channel Subunit HERG-32
Voltage-Gated Potassium Channel Subunit Kv11.32 3     Potassium Voltage-Gated Channel Subfamily H Member 72
ERG-32 3     hERG-33

External Ids:    HGNC: 188631   Entrez Gene: 901342   Ensembl: ENSG000001846117   OMIM: 6081695   UniProtKB: Q9NS403   

Export aliases for KCNH7 gene to outside databases

Previous GC identifers: GC02M161281 GC02M161756 GC02M163430 GC02M163053 GC02M162936 GC02M155110


(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 KCNH7 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. There are at least two alternatively spliced transcript variants derived from this
gene and encoding distinct isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNH7 Gene:
KCNH7 (potassium voltage-gated channel, subfamily H (eag-related), member 7) is a protein-coding gene. Diseases associated with KCNH7 include gout, and pulmonary function. GO annotations related to this gene include inward rectifier potassium channel activity and signal transducer activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: KCNH7_HUMAN, Q9NS40
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Channel properties may be modulated by
cAMP and subunit assembly

summary for KCNH7 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 KCNH7 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_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNH7 gene promoter:
         E2F   E2F-1   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNH7 promoter sequence
   Search Chromatin IP Primers for KCNH7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNH7


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

Entrez Gene cytogenetic band: 2q24.2   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q24.3

KCNH7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNH7 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M163191:  view genomic region     (about GC identifiers)

Start:
163,227,917 bp from pter      End:
163,695,257 bp from pter
Size:
467,341 bases      Orientation:
minus 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: KCNH7_HUMAN, Q9NS40 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 7  
Size: 1196 amino acids; 135000 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 KCNH2/ERG1 and KCNH6/ERG2 (By
similarity)
Sequence caution: Sequence=AAD01946.1; Type=Frameshift; Positions=792, 795;
Secondary accessions: Q53QU4 Q53TB7 Q53TP9 Q8IV15
Alternative splicing: 2 isoforms:  Q9NS40-1   Q9NS40-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNH7: NX_Q9NS40

Explore proteomics data for KCNH7 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn600
  • Modification sites at PhosphoSitePlus

  • See KCNH7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_150375.2  NP_775185.1  

    ENSEMBL proteins: 
     ENSP00000331727   ENSP00000333781  
    Reactome Protein details: Q9NS40

    KCNH7 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: Kv11.3
    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 Q9NS40

    ProtoNet protein and cluster: Q9NS40

    5 Blocks protein domains:
    IPB000014 PAS domain
    IPB000595 Cyclic nucleotide-binding domain
    IPB001610 PAC motif
    IPB003938 EAG/ELK/ERG potassium channel family signature
    IPB003967 ERG potassium channel family signature


    UniProtKB/Swiss-Prot: KCNH7_HUMAN, Q9NS40
    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. Kv11.3/KCNH7 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


    KCNH7 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: KCNH7_HUMAN, Q9NS40
    Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. 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:0004871signal transducer activity IEA--
    GO:0005216ion channel activity ----
    GO:0005242inward rectifier potassium channel activity IEA--
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0005267potassium channel activity ----
         
    KCNH7 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KCNH7:
     Synthetic lethal with Ras 

         1 MGI phenotypic allele for Kcnh7 (no phenotypes)

    KCNH7 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnh7tm1Lex for KCNH7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNH7
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate KCNH7 (see all 25):
    hsa-miR-3910 hsa-miR-448 hsa-miR-125a-5p hsa-miR-4328 hsa-miR-449a hsa-miR-507 hsa-miR-1297 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidKCNH7 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNH7


    (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
    KCNH7_HUMAN, Q9NS40: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    cytosol1
    nucleus1

    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 ----

    KCNH7 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 KCNH7 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 KCNH7
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNH7
        Voltage gated Potassium channels



    KCNH7 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNH7: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for KCNH7

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

    Selected Interacting proteins for KCNH7 (Q9NS403 ENSP000003317274) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    KCNB1ENSP000003608064STRING: ENSP00000360806
    KCNH1ENSP000002717514STRING: ENSP00000271751
    KCNH2ENSP000002621864STRING: ENSP00000262186
    KCNH3ENSP000002579814STRING: ENSP00000257981
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006811ion transport ----
    GO:0006813potassium ion transport ----
    GO:0007165signal transduction ----
    GO:0007268synaptic transmission TAS--

    KCNH7 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 KCNH7 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 KCNH7    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    5 DrugBank Compounds for KCNH7    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



    (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 KCNH7 gene (2 alternative transcripts): 
    NM_033272.3  NM_173162.2  

    Unigene Cluster for KCNH7:

    Potassium voltage-gated channel, subfamily H (eag-related), member 7
    Hs.657413  [show with all ESTs]
    Unigene Representative Sequence: NM_033272
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000332142(uc002uch.2) ENST00000328032(uc002uci.3) ENST00000477019

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    hsa-miR-3910 hsa-miR-448 hsa-miR-125a-5p hsa-miR-4328 hsa-miR-449a hsa-miR-507 hsa-miR-1297 hsa-miR-570
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    Additional mRNA sequence: 

    AF032897.1 AK098545.1 BC035815.1 

    4 DOTS entries:

    DT.40110642  DT.75112197  DT.40120858  DT.102834918 

    Selected AceView cDNA sequences (see all 35):

    CD634932 CD634945 AK098545 NM_033272 CD634938 BC035815 CD634935 NM_173162 
    AA496138 CD634936 BG617817 CD634941 CD634943 CD634953 CD634930 AA496139 
    CD634939 BG200964 AF032897 CD634933 CD634928 U48352 CD634952 CD634951 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNH7    About this scheme

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


    ECgene alternative splicing isoforms for KCNH7

    (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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    KCNH7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATGTATGT
    KCNH7 Expression
    About this image


    KCNH7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)
             Cardiomyocyte-like progenitor cells
     
     Dermis (Integumentary System)
    KCNH7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNH7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.657413

    UniProtKB/Swiss-Prot: KCNH7_HUMAN, Q9NS40
    Tissue specificity: Expressed in prolactin-secreting adenomas

        Pathway & Disease-focused RT2 Profiler PCR Array including KCNH7: 
              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 KCNH7

    (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 eukaryotes.

    Orthologs for KCNH7 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnh71 , 5 potassium voltage-gated channel, subfamily H (eag-related), more1, 5 88.92(n)1
    94.79(a)1
      2 (36.50 cM)5
    1707381  NM_133207.21  NP_573470.21 
     626934145 
    chicken
    (Gallus gallus)
    Aves KCNH71 potassium voltage-gated channel, subfamily H (eag-related), more 80.38(n)
    86.87(a)
      424184  XM_422030.4  XP_422030.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNH76
    potassium voltage-gated channel, subfamily H (eag-...
    82(a)
    1 ↔ 1
    GL343359.1(145424-327417)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnh71 potassium voltage-gated channel, subfamily H (eag-related), more 74.24(n)
    80.53(a)
      100486080  XM_002933260.2  XP_002933306.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-240h6.11 si:dkey-240h6.1 66.7(n)
    71.7(a)
      560289  XM_683686.4  XP_688778.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta sei6
    seizure
    48(a)
    1 ↔ 1
    2R(19936728-19940562)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1031 unc-103 58.59(n)
    61.57(a)
      175527  NM_001129213.1  NP_001122685.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons KAT11 KAT1 41.06(n)
    27.15(a)
      834666  NM_123993.2  NP_199436.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g02458001 Os02g0245800 41.35(n)
    27.37(a)
      4328864  NM_001052957.1  NP_001046422.2 


    ENSEMBL Gene Tree for KCNH7 (if available)
    TreeFam Gene Tree for KCNH7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNH7 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  HCN12  KCNH22  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    4 SIMAP similar genes for KCNH7 using alignment to 1 protein entry:     KCNH7_HUMAN:
    KCNH2    KCNH1    KCNH5    KCNH6

    KCNH7 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 KCNH7 (see all 8904)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105991911,2
    C--155555480(+) aaaaa-/A/AAA 
            
    gacaa
    2 -- int11NA 2
    rs1454792351,2
    --155579913(+) GTGCTC/TGGGAG 2 -- us2k10--------
    rs130313751,2
    C,F,H--155579950(+) TGAACG/TTGTGG 2 -- us2k124Minor allele frequency- T:0.15NS EA NA WA 2944
    rs608541571,2
    C--162682709(+) TTTTT-/TT/TT 
    TTTTTTTT
    ACTCA
    2 -- int11NA 2
    rs1834297121,2
    --163227445(+) ATTTTA/TAAACA 1 -- ds50010--------
    rs1871494551,2
    --163227456(+) TTTTTA/TGTAGA 1 -- ds50010--------
    rs751643401,2
    C,F--163227550(+) AGTTTG/TTGTTA 1 -- ds50011Minor allele frequency- T:0.03NA 120
    rs1487962221,2
    --163227612(+) AAAAAC/GCAAAA 1 -- ds50010--------
    rs1424711941,2
    --163227761(+) GGATAC/TGGCTT 1 -- ds50010--------
    rs1919191701,2
    --163227830(+) ATGAAC/TGTAAT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KCNH7 (163227917 - 163477917 bp, first 250kb of KCNH7)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNH7 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2044759CNV Deletion18987734
    esv1006625CNV Deletion20482838
    esv2130433CNV Deletion18987734
    esv2721052CNV Deletion23290073
    esv2667624CNV Deletion23128226
    esv2721053CNV Deletion23290073
    esv3985CNV Deletion18987735
    esv2596964CNV Deletion19546169
    esv270053CNV Insertion20981092
    nsv213705CNV Insertion16902084

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNH7
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNH7

    (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: 608169    OMIM disorders: --

    8 diseases for KCNH7:    
    About MalaCards
    gout    pulmonary function    psoriasis    multiple sclerosis
    adenoma    neuronitis    schizophrenia    malaria


    KCNH7 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNH7
    Human Genome Epidemiology (HuGE) Navigator: KCNH7 (6 documents)

    Export disorders for KCNH7 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 KCNH7 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with KCNH7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1, 4 Demirkan A....Schmitz G. (PLoS Genet. 2012)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. (PubMed id 20953190)1, 4  ....Trembath R.C. (Nat. Genet. 2010)
    4. 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)
    5. IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients. (PubMed id 19156166)1, 4 Couturier N....Brassat D. (Eur. J. Hum. Genet. 2009)
    6. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. (PubMed id 18285833)1, 4 MartA-nez A....Urcelay E. (Eur. J. Hum. Genet. 2008)
    7. 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)
    8. HERG K(+) currents in human prolactin-secreting adenoma cells. (PubMed id 12634931)1, 2 Bauer C.K.... Schwarz J.R. (Pflugers Arch. 2003)
    9. Genome-wide association study of antipsychotic-induced parkinsonism severity among schizophrenia patients. (PubMed id 19680635)4 Alkelai A....Lerer B. (Psychopharmacology (Berl.) 2009)
    10. 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)

    (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: 90134 HGNC: 18863 AceView: KCNH7 Ensembl:ENSG00000184611 euGenes: HUgn90134
    ECgene: KCNH7 H-InvDB: KCNH7

    (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 KCNH7 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 KCNH7 gene:
    Search GeneIP for patents involving KCNH7

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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