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Aliases for KCNH8 Gene

Aliases for KCNH8 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 8 2 3
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 8 2 3
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 8 3 5
  • 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
  • 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 KCNH1.

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 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 KCNH8 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for KCNH8 Gene at MOPED

Post-translational modifications for KCNH8 Gene

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

Other Protein References for KCNH8 Gene

ENSEMBL proteins:
REFSEQ proteins:

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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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:0016020 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

Interacting Proteins for KCNH8 Gene

Gene Ontology (GO) - Biological Process for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0023014 signal transduction by protein phosphorylation IEA --
GO:0042391 regulation of membrane potential IBA --
GO:0071805 potassium ion transmembrane transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Ba<sup>2+</sup> Pharma Pore Blocker 0
Flupirtine maleate Pharma KV7 channel activator 0

(4) Additional Compounds for KCNH8 Gene - From: 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 KCNH8 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 KCNH8: view

Transcripts for KCNH8 Gene

mRNA/cDNA for KCNH8 Gene

(6) 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:

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



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

Protein tissue co-expression partners for KCNH8 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia KCNH8 35
  • 85.65 (n)
  • 89.74 (a)
KCNH8 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH8 35
  • 92.32 (n)
  • 95.93 (a)
KCNH8 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh8 35
  • 86.95 (n)
  • 92.64 (a)
Kcnh8 16
Kcnh8 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNH8 35
  • 99.7 (n)
  • 99.46 (a)
KCNH8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh8 35
  • 86.59 (n)
  • 92.46 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNH8 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNH8 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNH8 35
  • 78.96 (n)
  • 84.27 (a)
KCNH8 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH8 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh8 35
  • 72.66 (n)
  • 75.77 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnh8 35
  • 67.2 (n)
  • 72.89 (a)
kcnh8 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta elk 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for KCNH8:
  • 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
rs33915638 - 19,533,453(+) GATCC(A/G)GCTTC reference, missense
rs35160416 - 19,533,725(+) ACAGT(C/G)AACTT reference, missense
rs17054 -- 19,180,565(-) TGCCC(A/G/T)AAATA intron-variant
rs727139 -- 19,293,203(-) TACCC(C/T)GTCTC intron-variant
rs1901008 -- 19,176,250(-) CTTAC(C/T)TTCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517847 CNV Gain 19592680
esv1965258 CNV Deletion 18987734
esv2724996 CNV Deletion 23290073
esv2724997 CNV Deletion 23290073
nsv524040 CNV Loss 19592680
esv2657193 CNV Deletion 23128226
nsv3717 CNV Insertion 18451855
nsv876595 CNV Loss 21882294
nsv3718 CNV Loss 18451855
esv23068 CNV Gain+Loss 19812545
nsv433358 CNV Gain 18776910
esv35078 CNV Gain 17911159

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links 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
  • exudative vitreoretinopathy 1
- 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 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. Bimodal regulation of an Elk subfamily K+ channel by phosphatidylinositol 4,5-bisphosphate. (PMID: 26503718) Li X. … Jegla T. (J. Gen. Physiol. 2015) 3
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3
  5. The expression of ELK transcription factors in adult DRG: Novel isoforms, antisense transcripts and upregulation by nerve damage. (PMID: 20304071) Kerr N. … Wynick D. (Mol. Cell. Neurosci. 2010) 23

Products for KCNH8 Gene

Sources for KCNH8 Gene

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