Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNH6 Gene

Aliases for KCNH6 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 6 2 3 5
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 6 2 3
  • 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
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 6 3
  • 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. Diseases associated with KCNH6 include Dejerine-Sottas Disease. Among its related pathways are Potassium Channels and Dopamine-DARPP32 Feedback onto cAMP Pathway. GO annotations related to this gene include signal transducer activity and voltage-gated potassium channel activity. An important paralog of this gene is KCNH2.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNH6 on UCSC Golden Path with GeneCards custom track

Promoters for KCNH6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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

Post-translational modifications for KCNH6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for KCNH6

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.

Gene Ontology (GO) - Molecular Function for KCNH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005249 voltage-gated potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNH6: view
genes like me logo Genes that share phenotypes with KCNH6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH6

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005887 integral component of plasma membrane IBA --
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

Gene Ontology (GO) - Biological Process for KCNH6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034765 regulation of ion transmembrane 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

(14) 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 56
Ibutilide Approved Pharma Target, inhibitor 5
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker, Target, inhibitor 3573
Prazosin Approved Pharma Inverse agonist, Antagonist, Target, inhibitor 59
Terazosin Approved Pharma Target, inhibitor α1-adrenergic receptor antagonist 20

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNH6 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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



Protein tissue co-expression partners for KCNH6 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNH6 Gene:

KCNH6

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

Primer 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 34
  • 89.73 (n)
  • 90.91 (a)
KCNH6 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH6 34
  • 89.35 (n)
  • 90.37 (a)
KCNH6 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh6 34
  • 87.51 (n)
  • 90.74 (a)
Kcnh6 16
Kcnh6 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNH6 34
  • 99.41 (n)
  • 99.12 (a)
KCNH6 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh6 34
  • 87.16 (n)
  • 90.32 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNH6 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 66 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KCNH6 34
  • 76.3 (n)
  • 75.41 (a)
KCNH6 35
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 66 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485121 34
  • 69.03 (n)
  • 72.14 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnh6 34
  • 67.99 (n)
  • 68.49 (a)
si:dkey-240h6.1 35
  • 48 (a)
ManyToMany
Species where no ortholog for KCNH6 was found in the sources mined by GeneCards:
  • 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
esv2675657 CNV deletion 23128226
esv3640998 CNV loss 21293372
nsv507852 OTHER sequence alteration 20534489
nsv952355 CNV deletion 24416366

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

Human Gene Mutation Database (HGMD)
KCNH6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNH6

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

Disorders for KCNH6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNH6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
dejerine-sottas disease
  • hypertrophic neuropathy of dejerine-sottas
- elite association - COSMIC cancer census association via MalaCards
Search KCNH6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNH6

Human Genome Epidemiology (HuGE) Navigator
KCNH6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH6
genes like me logo Genes that share disorders with KCNH6: view

No data available for 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 22 65
  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 65
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 65
  5. MicroRNA-224 targets ERG2 and contributes to malignant progressions of meningioma. (PMID: 25783051) Wang M. … Liang C. (Biochem. Biophys. Res. Commun. 2015) 3 65

Products for KCNH6 Gene

Sources for KCNH6 Gene

Content