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... See more...

Aliases for KCNH8 Gene

Aliases for KCNH8 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 8 2 3 4 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
  • Kv12.1 2 3
  • HElk1 3 4
  • ELK1 3 4
  • Elk3 2 3
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 8 3
  • Ether-A-Go-Go-Like Potassium Channel 1 3
  • KCNH8 5
  • ELK3 4
  • 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. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include nucleotide binding and ion channel activity. An important paralog of this gene is KCNH4.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNH8 Gene

Genomics for KCNH8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNH8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J019146 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 605.1 -0.3 -310 4 CREB1 PRDM10 REST ZNF629 ZNF692 TARDBP FOXA1 PRDM1 ZIC2 PKNOX1 KCNH8 HSALNG0024551 SATB1
GH03J019971 Enhancer 0.7 Ensembl 5 +823.2 823191 2.2 CREB1 ZNF629 ZHX2 FOXA1 ATF7 SP1 CTBP1 CEBPB JUN RCOR1 EFHB KAT2B KCNH8 piR-50968-078 RAB5A NONHSAG034575.2 PP2D1
GH03J020013 Enhancer 0.8 Ensembl 4.2 +866.0 865991 2.6 LEF1 IKZF1 MTA2 ZNF24 DPF2 HDAC1 SOX6 TCF12 EP300 CBX3 RF00017-3937 EFHB KCNH8 PP2D1 RPL39P18 KAT2B
GH03J019489 Enhancer 0.4 FANTOM5 Ensembl 2.7 +340.6 340625 1.1 piR-30764-006 piR-37942 piR-40156 piR-56133-143 KCNH8 ENSG00000287069 RAB5A
GH03J019337 Enhancer 0.2 FANTOM5 4.2 +189.5 189496 0 KCNH8 piR-41838-020 piR-33432-335 RAB5A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNH8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNH8

Top Transcription factor binding sites by QIAGEN in the KCNH8 gene promoter:
  • AML1a
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • Evi-1
  • HNF-3beta
  • MRF-2
  • NRSF form 1
  • NRSF form 2
  • p300

Genomic Locations for KCNH8 Gene

Genomic Locations for KCNH8 Gene
chr3:19,148,510-19,535,642
(GRCh38/hg38)
Size:
387,133 bases
Orientation:
Plus strand
chr3:19,189,946-19,577,138
(GRCh37/hg19)
Size:
387,193 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 Asn409 and Asn320
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNH8 Gene

Domains & Families for KCNH8 Gene

Gene Families for KCNH8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNH8 Gene

InterPro:
Blocks:
  • PAS domain
  • PAC motif
  • Cyclic nucleotide-binding domain
  • EAG/ELK/ERG potassium channel family signature
  • ERG potassium channel family signature
  • ELK potassium channel family signature
ProtoNet:

Suggested Antigen Peptide Sequences for KCNH8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57487, highly similar to Potassium voltage-gated channel subfamily H member 8 (B7Z2I7_HUMAN)
  • Voltage-gated potassium channel subunit Kv12.1 (KCNH8_HUMAN)

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.
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.

Phenotypes From GWAS Catalog for KCNH8 Gene

Gene Ontology (GO) - Molecular Function for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA 21873635
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

CRISPR Products

miRNA for KCNH8 Gene

miRTarBase miRNAs that target KCNH8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH8

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNH8 gene
Compartment Confidence
plasma membrane 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
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

PathCards logo

SuperPathways 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
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0042391 regulation of membrane potential IBA 21873635
GO:0055085 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Promethazine Approved, Investigational Pharma Target, inducer 470
cyclic amp Experimental Pharma 0
Ba<sup>2+</sup> Pharma Pore Blocker, Antagonist, Inhibition 0
Chromanol 293B Pharma Pore Blocker, Antagonist IKs blocker. Also blocks ICFTR 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNH8 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNH8: view

Transcripts for KCNH8 Gene

mRNA/cDNA for KCNH8 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNH8

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

Expression for KCNH8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KCNH8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)

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 and MOPED for KCNH8 Gene



Protein tissue co-expression partners for KCNH8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for KCNH8 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with KCNH8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 99.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNH8 30 31
  • 92.32 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNH8 31
  • 89 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNH8 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Kcnh8 30 17 31
  • 86.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnh8 30
  • 86.59 (n)
Cow
(Bos Taurus)
Mammalia KCNH8 30 31
  • 85.65 (n)
OneToOne
Chicken
(Gallus gallus)
Aves KCNH8 30 31
  • 78.96 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNH8 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnh8 30
  • 72.66 (n)
Zebrafish
(Danio rerio)
Actinopterygii kcnh8 30 31
  • 67.2 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta elk 31
  • 37 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 50 (a)
OneToMany
Species where no ortholog for KCNH8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNH8: view image

Paralogs for KCNH8 Gene

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

  • KCNH8_HUMAN
  • B7Z2I7_HUMAN
  • F8WCG6_HUMAN
genes like me logo Genes that share paralogs with KCNH8: view

Variants for KCNH8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNH8 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
770137 Benign: not provided 19,456,866(+) A/G MISSENSE_VARIANT
791911 Benign: not provided 19,451,301(+) G/T SYNONYMOUS_VARIANT
791912 Benign: not provided 19,533,725(+) G/C MISSENSE_VARIANT
rs33915638 - p.Gln893Arg
rs35160416 - p.Glu984Gln

Additional dbSNP identifiers (rs#s) for KCNH8 Gene

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)

Additional Variant Information for KCNH8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KCNH8 Gene

Additional Disease Information for KCNH8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for KCNH8 Gene.

No data available for MalaCards , 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 AD (American journal of physiology. Cell physiology 2003) 3 4 23
  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 SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel DP … Karasik D (BMC medical genetics 2007) 3 41
  4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman GA … Wang X (Pharmacological reviews 2005) 2 3
  5. A novel membrane potential-sensitive fluorescent dye improves cell-based assays for ion channels. (PMID: 11897058) Baxter DF … Xie Y (Journal of biomolecular screening 2002) 3 4

Products for KCNH8 Gene

Sources for KCNH8 Gene