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Aliases for KCNH8 Gene

Aliases for KCNH8 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 8 2 3 5
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 8 2 3
  • Voltage-Gated Potassium Channel Subunit Kv12.1 3 4
  • Ether-A-Go-Go-Like Potassium Channel 3 3 4
  • ELK Channel 3 3 4
  • HElk1 3 4
  • ELK1 3 4
  • Elk3 3 4
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 8 3
  • Ether-A-Go-Go-Like Potassium Channel 1 3
  • Kv12.1 3
  • ELK 3

External Ids for KCNH8 Gene

Previous GeneCards Identifiers for KCNH8 Gene

  • GC03P018574
  • GC03P018804
  • GC03P019040

Summaries for KCNH8 Gene

Entrez Gene Summary for KCNH8 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNH8 Gene

KCNH8 (Potassium Voltage-Gated Channel Subfamily H Member 8) is a Protein Coding gene. Diseases associated with KCNH8 include Exudative Vitreoretinopathy. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include nucleotide binding and ion channel activity. An important paralog of this gene is KCNH4.

UniProtKB/Swiss-Prot for KCNH8 Gene

  • Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits a slowly activating, outward rectifying current. Channel properties may be modulated by cAMP and subunit assembly.

Tocris Summary for KCNH8 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 KCNH8 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH8 Gene

Genomics for KCNH8 Gene

Regulatory Elements for KCNH8 Gene

Enhancers for KCNH8 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
GH03F019146 1.2 FANTOM5 ENCODE 5.2 +0.5 533 2.7 ATF1 PKNOX1 ZNF76 KLF17 ZBTB40 RAD21 GLIS2 ZNF366 SCRT2 CREM KCNH8 GC03M019147
GH03F019337 0.5 FANTOM5 4.2 +190.9 190914 0.0 KCNH8 GC03P019341 MIR4791
GH03F019489 0.8 FANTOM5 2.7 +342.4 342390 0.4 ZNF316 KCNH8 PIR33155 GC03P019528
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KCNH8 on UCSC Golden Path with GeneCards custom track

Promoters for KCNH8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001358964 707 2800 ATF1 PKNOX1 ZNF76 KLF17 ZBTB40 RAD21 GLIS2 ZNF366 SCRT2 ETV6

Genomic Location for KCNH8 Gene

Chromosome:
3
Start:
19,147,093 bp from pter
End:
19,535,646 bp from pter
Size:
388,554 bases
Orientation:
Plus strand

Genomic View for KCNH8 Gene

Genes around KCNH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH8 Gene

Proteins for KCNH8 Gene

  • Protein details for KCNH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L42-KCNH8_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 8
    Protein Accession:
    Q96L42
    Secondary Accessions:
    • B7Z2I7
    • Q59GQ6

    Protein attributes for KCNH8 Gene

    Size:
    1107 amino acids
    Molecular mass:
    123804 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.

    Alternative splice isoforms for KCNH8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNH8 Gene

Post-translational modifications for KCNH8 Gene

  • Glycosylation at Asn 320 and Asn 409
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH8 Gene

No data available for DME Specific Peptides for KCNH8 Gene

Domains & Families for KCNH8 Gene

Gene Families for KCNH8 Gene

Graphical View of Domain Structure for InterPro Entry

Q96L42

UniProtKB/Swiss-Prot:

KCNH8_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. Kv12.1/KCNH8 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. Kv12.1/KCNH8 sub-subfamily.
genes like me logo Genes that share domains with KCNH8: view

Function for KCNH8 Gene

Molecular function for KCNH8 Gene

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

Gene Ontology (GO) - Molecular Function for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNH8: view
genes like me logo Genes that share phenotypes with KCNH8: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH8

miRNA for KCNH8 Gene

miRTarBase miRNAs that target KCNH8

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 KCNH8 Gene

Localization for KCNH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH8 Gene COMPARTMENTS Subcellular localization image for KCNH8 gene
Compartment Confidence
plasma membrane 5
cytosol 2

Gene Ontology (GO) - Cellular Components for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KCNH8: view

Pathways & Interactions for KCNH8 Gene

genes like me logo Genes that share pathways with KCNH8: view

Pathways by source for KCNH8 Gene

1 Qiagen pathway for KCNH8 Gene

Gene Ontology (GO) - Biological Process for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system IEA --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0023014 signal transduction by protein phosphorylation IEA --
genes like me logo Genes that share ontologies with KCNH8: view

No data available for SIGNOR curated interactions for KCNH8 Gene

Drugs & Compounds for KCNH8 Gene

(7) Drugs for KCNH8 Gene - From: DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker potassium channel-blocking agent, Non-selective KV channel blocker 68
cyclic amp Experimental Pharma 0
Ba<sup>2+</sup> Pharma Pore Blocker 0
E-4031 dihydrochloride Pharma KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 0
Linopirdine dihydrochloride Pharma KV7 (KCNQ) channel blocker 0

(1) Additional Compounds for KCNH8 Gene - From: Tocris

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

(5) Tocris Compounds for KCNH8 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 KCNH8: view

Transcripts for KCNH8 Gene

mRNA/cDNA for KCNH8 Gene

(7) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNH8 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 8:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b
SP1: -
SP2:

Relevant External Links for KCNH8 Gene

GeneLoc Exon Structure for
KCNH8
ECgene alternative splicing isoforms for
KCNH8

Expression for KCNH8 Gene

mRNA expression in normal human tissues for KCNH8 Gene

mRNA differential expression in normal tissues according to GTEx for KCNH8 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.2), Pituitary (x5.2), Brain - Hippocampus (x5.0), Brain - Substantia nigra (x4.9), and Brain - Amygdala (x4.4).

Protein differential expression in normal tissues from HIPED for KCNH8 Gene

This gene is overexpressed in Fetal Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH8 Gene



Protein tissue co-expression partners for KCNH8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNH8 Gene:

KCNH8

SOURCE GeneReport for Unigene cluster for KCNH8 Gene:

Hs.475656

mRNA Expression by UniProt/SwissProt for KCNH8 Gene:

Q96L42-KCNH8_HUMAN
Tissue specificity: Primarily expressed in the nervous system.
genes like me logo Genes that share expression patterns with KCNH8: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KCNH8 Gene

Orthologs for KCNH8 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNH8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNH8 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia KCNH8 34 35
  • 92.32 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNH8 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH8 35
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh8 34 16 35
  • 86.95 (n)
rat
(Rattus norvegicus)
Mammalia Kcnh8 34
  • 86.59 (n)
cow
(Bos Taurus)
Mammalia KCNH8 34 35
  • 85.65 (n)
chicken
(Gallus gallus)
Aves KCNH8 34 35
  • 78.96 (n)
lizard
(Anolis carolinensis)
Reptilia KCNH8 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh8 34
  • 72.66 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnh8 34 35
  • 67.2 (n)
fruit fly
(Drosophila melanogaster)
Insecta elk 35
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 50 (a)
OneToMany
Species where no ortholog for KCNH8 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)
  • 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 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 KCNH8 Gene

ENSEMBL:
Gene Tree for KCNH8 (if available)
TreeFam:
Gene Tree for KCNH8 (if available)

Paralogs for KCNH8 Gene

(6) SIMAP similar genes for KCNH8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNH8: view

Variants for KCNH8 Gene

Sequence variations from dbSNP and Humsavar for KCNH8 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10428250 -- 19,447,055(+) ATTAT(A/G)TACAT intron-variant
rs10470605 -- 19,394,778(+) GTACA(A/G)TTCTG intron-variant
rs10470642 -- 19,395,095(+) GTCTC(C/T)TACCA intron-variant
rs10510486 -- 19,166,287(+) TTACA(A/G)TGAAT intron-variant
rs10510487 -- 19,436,044(-) TTTTC(A/G)ATTGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH8 Gene

Variant ID Type Subtype PubMed ID
dgv122n73 CNV deletion 24416366
dgv872e214 CNV loss 21293372
esv1965258 CNV deletion 18987734
esv23068 CNV gain+loss 19812545
esv2657193 CNV deletion 23128226
esv2724996 CNV deletion 23290073
esv2724997 CNV deletion 23290073
esv35078 CNV gain 17911159
esv3595452 CNV gain 21293372
esv3595454 CNV loss 21293372
esv3595455 CNV loss 21293372
esv3893665 CNV gain 25118596
esv3893666 CNV loss 25118596
esv3893667 CNV gain 25118596
nsv1010123 CNV gain 25217958
nsv1114360 CNV deletion 24896259
nsv3717 CNV insertion 18451855
nsv3718 CNV deletion 18451855
nsv433358 CNV gain 18776910
nsv517847 CNV gain 19592680
nsv524040 CNV loss 19592680
nsv589855 CNV loss 21841781
nsv955325 CNV deletion 24416366

Variation tolerance for KCNH8 Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 75.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH8 Gene

Disorders for KCNH8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNH8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
exudative vitreoretinopathy
  • familial exudative vitreoretinopathy
- elite association - COSMIC cancer census association via MalaCards
Search KCNH8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNH8

Genetic Association Database (GAD)
KCNH8
Human Genome Epidemiology (HuGE) Navigator
KCNH8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH8
genes like me logo Genes that share disorders with KCNH8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNH8 Gene

Publications for KCNH8 Gene

  1. Distribution and functional properties of human KCNH8 (Elk1) potassium channels. (PMID: 12890647) Zou A. … Wickenden A.D. (Am. J. Physiol. 2003) 3 4 22 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel D.P. … Karasik D. (BMC Med. Genet. 2007) 3 46 64
  4. 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 64
  5. A novel membrane potential-sensitive fluorescent dye improves cell- based assays for ion channels. (PMID: 11897058) Baxter D.F. … Xie Y. (J. Biomol. Screen. 2002) 3 4 64

Products for KCNH8 Gene

Sources for KCNH8 Gene

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