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KCNH5 Gene

protein-coding   GIFtS: 63
GCID: GC14M063173

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

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(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
51 2
     Kv10.22
Voltage-Gated Potassium Channel Subunit Kv10.22 3     Ether-A-Go-Go-Related Potassium Channel 22
EAG22 3     Potassium Voltage-Gated Channel Subfamily H Member 52
hEAG22 3     Ether-A-Go-Go Potassium Channel 23
H-EAG22     

External Ids:    HGNC: 62541   Entrez Gene: 271332   Ensembl: ENSG000001400157   OMIM: 6057165   UniProtKB: Q8NCM23   

Export aliases for KCNH5 gene to outside databases

Previous GC identifers: GC14M060501 GC14M056967 GC14M061163 GC14M062243 GC14M043339


(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 KCNH5 Gene:
This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions,
including regulating neurotransmitter and hormone release, cardiac function, and cell volume. This protein is an
outward-rectifying, noninactivating channel. Alternative splicing results in multiple transcript variants.
(provided by RefSeq, Jul 2013)

GeneCards Summary for KCNH5 Gene:
KCNH5 (potassium voltage-gated channel, subfamily H (eag-related), member 5) is a protein-coding gene. 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: KCNH5_HUMAN, Q8NCM2
Function: Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a non-inactivating outward
rectifying current. Channel properties may be modulated by cAMP and subunit assembly

summary for KCNH5 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 KCNH5 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 at NCBI GenBank:
NC_000014.8  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNH5 gene promoter:
         GR   AML1a   GR-beta   STAT5A   Arnt   PPAR-gamma1   c-Myb   STAT3   PPAR-gamma2   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNH5 promoter sequence
   Search Chromatin IP Primers for KCNH5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNH5


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

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

KCNH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNH5 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M063173:  view genomic region     (about GC identifiers)

Start:
63,173,287 bp from pter      End:
63,568,755 bp from pter
Size:
395,469 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KCNH5_HUMAN, Q8NCM2 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily H member 5  
Size: 988 amino acids; 111877 Da
Subunit: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming alpha
subunits that can associate with modulating beta subunits. Heteromultimer with KCNH1/EAG (Probable)
Sequence caution: Sequence=BAC11016.1; Type=Erroneous termination; Positions=436; Note=Translated as Gly;
Secondary accessions: C9JP98
Alternative splicing: 3 isoforms:  Q8NCM2-1   Q8NCM2-2   Q8NCM2-3   

Explore the universe of human proteins at neXtProt for KCNH5: NX_Q8NCM2

Explore proteomics data for KCNH5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys785
  • Glycosylation2 at Asn403
  • Modification sites at PhosphoSitePlus

  • See KCNH5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000321427   ENSP00000395439   ENSP00000378419   ENSP00000378415  
    Reactome Protein details: Q8NCM2

    KCNH5 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: Kv10.2
    Voltage-gated potassium channels

    Selected 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 Q8NCM2

    ProtoNet protein and cluster: Q8NCM2

    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
    IPB003949 EAG potassium channel signature


    UniProtKB/Swiss-Prot: KCNH5_HUMAN, Q8NCM2
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv10.2/KCNH5 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


    Find genes that share domains with KCNH5           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

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

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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000155phosphorelay sensor kinase activity IEA--
    GO:0004871signal transducer activity ----
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with KCNH5           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for KCNH5:
     Increased G1 DNA content  Increased cell number in G1, s 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kcnh5):
     behavior/neurological  no phenotypic analysis 

    Find genes that share phenotypes with KCNH5           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNH5
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    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): KCNH5 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
    KCNH5_HUMAN, Q8NCM2: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IBA--
    GO:0009986cell surface IDA--
    GO:0016020membrane ----

    Find genes that share ontologies with KCNH5           About GenesLikeMe


    (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 KCNH5 About    
    See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    Potassium Channels0.43
    Potassium transporters outward current0.41
    Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    Dopamine-DARPP32 Feedback onto cAMP Pathway


    Find genes that share SuperPaths with KCNH5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNH5
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 Reactome Pathway for KCNH5
        Voltage gated Potassium channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNH5
    Interactions:

        Search GeneGlobe Interaction Network for KCNH5

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

    Selected Interacting proteins for KCNH5 (Q8NCM23 ENSP000003214274) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CASKO149363, ENSP000003674084I2D: score=1 STRING: ENSP00000367408
    DLG1Q129593, ENSP000003457314I2D: score=1 STRING: ENSP00000345731
    KCNA2P163893, ENSP000003145204I2D: score=1 STRING: ENSP00000314520
    KCNH1O952593, ENSP000002717514I2D: score=1 STRING: ENSP00000271751
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    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--

    Find genes that share ontologies with KCNH5           About GenesLikeMe



    (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 KCNH5 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 KCNH5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    1 Novoseek inferred chemical compound relationship for KCNH5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 32.1 1 11943152 (1)



    Find genes that share compounds with KCNH5           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KCNH5 gene (3 alternative transcripts): 
    NM_139318.4  NM_172375.2  NM_172376.1  

    Unigene Cluster for KCNH5:

    Potassium voltage-gated channel, subfamily H (eag-related), member 5
    Hs.27043  [show with all ESTs]
    Unigene Representative Sequence: BC073979
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000322893(uc001xfx.3 uc001xfy.3) ENST00000420622 ENST00000394968(uc001xfz.1)
    ENST00000394964(uc001xga.3)
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    hsa-miR-217 hsa-miR-16-2* hsa-miR-300 hsa-miR-7-2* hsa-miR-3942-5p hsa-miR-381 hsa-miR-1271 hsa-miR-4267
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    Additional mRNA sequence: 

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

    4 DOTS entries:

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

    19 AceView cDNA sequences:

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

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for KCNH5

    (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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    KCNH5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAGGATATT
    KCNH5 Expression
    About this image


    KCNH5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neurons
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Kidney (Urinary System)
             Ureteric Bud
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    KCNH5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNH5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.27043

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

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KCNH5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnh51 , 5 potassium voltage-gated channel, subfamily H (eag-related), more1, 5 91.33(n)1
    98.08(a)1
      12 (32.62 cM)5
    2382711  NM_172805.31  NP_766393.21 
     748972175 
    chicken
    (Gallus gallus)
    Aves KCNH51 potassium voltage-gated channel, subfamily H (eag-related), more 84.95(n)
    95.85(a)
      423514  XM_421414.3  XP_421414.2 
    lizard
    (Anolis carolinensis)
    Reptilia KCNH56
    potassium voltage-gated channel, subfamily H (eag-...
    89(a)
    1 ↔ 1
    1(2566021-2796690)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnh51 potassium voltage-gated channel, subfamily H (eag-related), more 81.38(n)
    92.27(a)
      100151738  NM_001127437.1  NP_001120909.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnh5a1 potassium voltage-gated channel, subfamily H (eag-related), more 72.65(n)
    81.85(a)
      556304  NM_001276280.1  NP_001263209.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta eag3 courtship behavior voltage-gated
    potassium channel
    61(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea egl-23 channel protein 57(a)   V(1289525-1299037)   --


    ENSEMBL Gene Tree for KCNH5 (if available)
    TreeFam Gene Tree for KCNH5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNH5 gene
    KCNH62  KCNH32  HCN32  HCN42  KCNH42  HCN22  CNGA12  CNGA22  
    HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    7 SIMAP similar genes for KCNH5 using alignment to 2 protein entries:     KCNH5_HUMAN (see all proteins):
    KCNH1    KCNH2    KCNH4    KCNH7    KCNH8    KCNH6
    KCNH3

    Find genes that share paralogs with KCNH5           About GenesLikeMe



    (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 KCNH5 (see all 7868)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1882474731,2
    --44158924(+) TATCCA/CACACT 2 -- ds50010--------
    rs1397905071,2
    C--44159197(+) TCTTCA/GAATAT 2 -- ds50010--------
    rs763464161,2
    F--44159231(+) TCATAC/TTCTTT 2 -- ut310--------
    rs1912932971,2
    --44159264(+) ATAAAC/TGTAAA 2 -- ut310--------
    rs1827647391,2
    --44159294(+) CATAAG/TATACA 2 -- ut310--------
    rs1876422041,2
    --44159394(+) GTCATC/TATCTT 2 -- ut310--------
    rs2021539241,2
    C--44159539(+) GCCTTC/GAGACA 3 S * stg1 ut310--------
    rs1482004691,2
    F--44159571(+) ATCTGG/TGGGGG 3 P syn1 ut311Minor allele frequency- T:0.00NA 4528
    rs2003823621,2
    --44159572(+) TCTGGC/GGGGGT 3 P R mis1 ut310--------
    rs1503667791,2
    C,F--44159634(+) TCCGAC/GAGTAT 3 L syn1 ut312Minor allele frequency- G:0.00NA EU 5873

    HapMap Linkage Disequilibrium report for KCNH5 (63173287 - 63423287 bp, first 250kb of KCNH5)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KCNH5 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv274258CNV Insertion20981092
    esv270248CNV Insertion20981092
    esv1128942CNV Insertion17803354
    esv2497499CNV Insertion19546169
    nsv507756CNV Insertion20534489
    esv1264722CNV Insertion17803354
    esv21487CNV Loss19812545
    nsv902015CNV Loss21882294
    nsv902014CNV Loss21882294
    esv275351CNV Loss21479260

    Human Gene Mutation Database (HGMD): KCNH5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KCNH5
    DNA2.0 Custom Variant and Variant Library Synthesis for KCNH5

    (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: 605716    OMIM disorders: --


    Find genes that share disorders with KCNH5           About GenesLikeMe

    Genetic Association Database (GAD): KCNH5
    Human Genome Epidemiology (HuGE) Navigator: KCNH5 (4 documents)

    Export disorders for KCNH5 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 KCNH5 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with KCNH5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Functional distinction of human EAG1 and EAG2 potassium channels. (PubMed id 11943152)1, 2, 9 Schoenherr R.... Heinemann S.H. (FEBS Lett. 2002)
    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. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PubMed id 19850283)1, 4 Ikeda M....Iwata N. (Biol. Psychiatry 2010)
    4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    5. Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells. (PubMed id 18655026)1, 2 Tan F.... Peng X. (Proteomics 2008)
    6. 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)
    7. 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)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Molecular identification and characterisation of the human eag2 potassium channel. (PubMed id 12135768)1, 2 Ju M. and Wray D. (FEBS Lett. 2002)
    10. Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. (PubMed id 23377640)1 (Am J Psychiatry 2013)

    (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: 27133 HGNC: 6254 AceView: KCNH5 Ensembl:ENSG00000140015 euGenes: HUgn27133
    ECgene: KCNH5 H-InvDB: KCNH5

    (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 KCNH5 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 KCNH5 gene:
    Search GeneIP for patents involving KCNH5

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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