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Aliases for KCNH6 Gene

Aliases for KCNH6 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 6 2 3
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 6 2 3
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 6 3 5
  • Voltage-Gated Potassium Channel Subunit Kv11.2 3 4
  • Ether-A-Go-Go-Related Protein 2 3 4
  • HERG-2 3 4
  • HERG2 3 4
  • ERG-2 3 4
  • ERG2 3 4
  • Ether-A-Go-Go-Related Gene Potassium Channel 2 4
  • Eag-Related Gene Member 2 3
  • Eag-Related Protein 2 4
  • Kv11.2 3

External Ids for KCNH6 Gene

Previous GeneCards Identifiers for KCNH6 Gene

  • GC17P061251
  • GC17P064027
  • GC17P061941
  • GC17P062074
  • GC17P058954
  • GC17P061600
  • GC17P056966

Summaries for KCNH6 Gene

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 Member 6) is a Protein Coding gene. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Transmission across Chemical Synapses. GO annotations related to this gene include signal transducer activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH1.

UniProtKB/Swiss-Prot for KCNH6 Gene

  • 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.

Tocris 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNH6 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH6 Gene

Genomics for KCNH6 Gene

Regulatory Elements for KCNH6 Gene

Enhancers for KCNH6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNH6 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNH6 Gene

Chromosome:
17
Start:
63,523,334 bp from pter
End:
63,548,977 bp from pter
Size:
25,644 bases
Orientation:
Plus strand

Genomic View for KCNH6 Gene

Genes around KCNH6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH6 Gene

Proteins for KCNH6 Gene

  • Protein details for KCNH6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H252-KCNH6_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 6
    Protein Accession:
    Q9H252
    Secondary Accessions:
    • Q9BRD7

    Protein attributes for KCNH6 Gene

    Size:
    994 amino acids
    Molecular mass:
    109925 Da
    Quaternary structure:
    • 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).

    Alternative splice isoforms for KCNH6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH6 Gene

Proteomics data for KCNH6 Gene at MOPED

Post-translational modifications for KCNH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for KCNH6 Gene

Domains & Families for KCNH6 Gene

Gene Families for KCNH6 Gene

Suggested Antigen Peptide Sequences for KCNH6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H252

UniProtKB/Swiss-Prot:

KCNH6_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Contains 1 cyclic nucleotide-binding domain.
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 1 PAS (PER-ARNT-SIM) domain.
Family:
  • Belongs to the potassium channel family. H (Eag) (TC 1.A.1.20) subfamily. Kv11.2/KCNH6 sub-subfamily.
genes like me logo Genes that share domains with KCNH6: view

Function for KCNH6 Gene

Molecular function for KCNH6 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with KCNH6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH6

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNH6 Gene

Localization for KCNH6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH6 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH6 Gene COMPARTMENTS Subcellular localization image for KCNH6 gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KCNH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNH6: view

Pathways & Interactions for KCNH6 Gene

genes like me logo Genes that share pathways with KCNH6: view

Pathways by source for KCNH6 Gene

1 Qiagen pathway for KCNH6 Gene

Interacting Proteins for KCNH6 Gene

Gene Ontology (GO) - Biological Process for KCNH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0042391 regulation of membrane potential IBA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNH6: view

No data available for SIGNOR curated interactions for KCNH6 Gene

Drugs & Compounds for KCNH6 Gene

(11) Drugs for KCNH6 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxazosin Approved Pharma Target, inhibitor 55
Ibutilide Approved Pharma Target, inhibitor 5
Miconazole Approved, Investigational Pharma Antagonist, Pore Blocker, Target, inhibitor 3525
Prazosin Approved Pharma Inverse agonist, Antagonist, Target, inhibitor 59
Terazosin Approved Pharma Target, inhibitor 20

(6) Additional Compounds for KCNH6 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4

(5) Tocris Compounds for KCNH6 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNH6: view

Transcripts for KCNH6 Gene

Unigene Clusters for KCNH6 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH6 Gene

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:

Relevant External Links for KCNH6 Gene

GeneLoc Exon Structure for
KCNH6
ECgene alternative splicing isoforms for
KCNH6

Expression for KCNH6 Gene

mRNA expression in normal human tissues for KCNH6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH6 Gene

This gene is overexpressed in Kidney - Cortex (x17.3), Pituitary (x7.7), Prostate (x5.9), and Small Intestine - Terminal Ileum (x4.6).

Protein differential expression in normal tissues from HIPED for KCNH6 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH6 Gene



SOURCE GeneReport for Unigene cluster for KCNH6 Gene Hs.591177

mRNA Expression by UniProt/SwissProt for KCNH6 Gene

Q9H252-KCNH6_HUMAN
Tissue specificity: Expressed in prolactin-secreting adenomas.
genes like me logo Genes that share expression patterns with KCNH6: view

Protein tissue co-expression partners for KCNH6 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNH6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNH6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNH6 35
  • 89.73 (n)
  • 90.91 (a)
KCNH6 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH6 35
  • 89.35 (n)
  • 90.37 (a)
KCNH6 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh6 35
  • 87.51 (n)
  • 90.74 (a)
Kcnh6 16
Kcnh6 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNH6 35
  • 99.41 (n)
  • 99.12 (a)
KCNH6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh6 35
  • 87.16 (n)
  • 90.32 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNH6 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KCNH6 35
  • 76.3 (n)
  • 75.41 (a)
KCNH6 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485121 35
  • 69.03 (n)
  • 72.14 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnh6 35
  • 67.99 (n)
  • 68.49 (a)
si:dkey-240h6.1 36
  • 48 (a)
ManyToMany
Species with no ortholog for KCNH6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNH6 Gene

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

Paralogs for KCNH6 Gene

(7) SIMAP similar genes for KCNH6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNH6: view

Variants for KCNH6 Gene

Sequence variations from dbSNP and Humsavar for KCNH6 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs35399062 - 63,530,360(-) TGGTC(C/T)GCCTG nc-transcript-variant, reference, missense
rs35819807 - 63,545,691(-) TGTCC(A/G)TTGCC intron-variant, reference, synonymous-codon, missense
rs867640 -- 63,524,584(-) GCCAG(A/G)ACCAG intron-variant
rs867641 -- 63,524,257(-) TCGCA(C/G)GTGCA intron-variant, nc-transcript-variant, reference, synonymous-codon
rs883990 -- 63,523,895(+) CACAT(C/G)CCTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH6 Gene

Variant ID Type Subtype PubMed ID
nsv908683 CNV Loss 21882294
esv2675657 CNV Deletion 23128226
nsv507852 CNV Insertion 20534489

Variation tolerance for KCNH6 Gene

Residual Variation Intolerance Score: 83.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH6 Gene

HapMap Linkage Disequilibrium report
KCNH6
Human Gene Mutation Database (HGMD)
KCNH6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH6 Gene

Disorders for KCNH6 Gene

Relevant External Links for KCNH6

Human Genome Epidemiology (HuGE) Navigator
KCNH6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH6

No disorders were found for KCNH6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNH6 Gene

Publications for KCNH6 Gene

  1. HERG K(+) currents in human prolactin-secreting adenoma cells. (PMID: 12634931) Bauer C.K. … Schwarz J.R. (Pflugers Arch. 2003) 3 4 23 67
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  3. Blockade of HERG cardiac K+ current by antifungal drug miconazole. (PMID: 15778703) Kikuchi K. … Nakashima Y. (Br. J. Pharmacol. 2005) 25 26
  4. Ibutilide--recent molecular insights and accumulating evidence for use in atrial flutter and fibrillation. (PMID: 15926871) Doggrell S.A. … Hancox J.C. (Expert Opin Investig Drugs 2005) 25 26
  5. Inhibition of human ether-a-go-go-related gene potassium channels by alpha 1-adrenoceptor antagonists prazosin, doxazosin, and terazosin. (PMID: 15098086) Thomas D. … Karle C.A. (Naunyn Schmiedebergs Arch. Pharmacol. 2004) 25 26

Products for KCNH6 Gene

Sources for KCNH6 Gene

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