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Aliases for KCNH4 Gene

Aliases for KCNH4 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 4 2 3
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 4 2 3
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 4 3 5
  • Voltage-Gated Potassium Channel Subunit Kv12.3 3 4
  • Ether-A-Go-Go-Like Potassium Channel 1 3 4
  • Brain-Specific Eag-Like Channel 2 3 4
  • ELK Channel 1 3 4
  • BEC2 3 4
  • ELK1 3 4
  • Ether-A-Go-Go K(+) Channel Family Member 3
  • Kv12.3 3

External Ids for KCNH4 Gene

Previous GeneCards Identifiers for KCNH4 Gene

  • GC17M039865
  • GC17M042464
  • GC17M040217
  • GC17M040682
  • GC17M037562
  • GC17M040308
  • GC17M036074

Summaries for KCNH4 Gene

Entrez Gene Summary for KCNH4 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. The gene is brain-specific, and located in the neocortex and the striatum. It may be involved in cellular excitability of restricted neurons in the central nervous system. [provided by RefSeq, Jul 2008]

GeneCards Summary for KCNH4 Gene

KCNH4 (Potassium Voltage-Gated Channel Subfamily H Member 4) is a Protein Coding gene. Among its related pathways are Potassium Channels 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 KCNH4 Gene

  • Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly.

Tocris Summary for KCNH4 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 KCNH4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH4 Gene

Genomics for KCNH4 Gene

Regulatory Elements for KCNH4 Gene

Enhancers for KCNH4 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 KCNH4 on UCSC Golden Path with GeneCards custom track

Promoters for KCNH4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNH4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNH4 Gene

Chromosome:
17
Start:
42,156,891 bp from pter
End:
42,181,278 bp from pter
Size:
24,388 bases
Orientation:
Minus strand

Genomic View for KCNH4 Gene

Genes around KCNH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH4 Gene

Proteins for KCNH4 Gene

  • Protein details for KCNH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ05-KCNH4_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 4
    Protein Accession:
    Q9UQ05

    Protein attributes for KCNH4 Gene

    Size:
    1017 amino acids
    Molecular mass:
    111693 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.

neXtProt entry for KCNH4 Gene

Proteomics data for KCNH4 Gene at MOPED

Post-translational modifications for KCNH4 Gene

  • Glycosylation at Asn 326, Asn 414, and Asn 473
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNH4 Gene

Domains & Families for KCNH4 Gene

Gene Families for KCNH4 Gene

Suggested Antigen Peptide Sequences for KCNH4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UQ05

UniProtKB/Swiss-Prot:

KCNH4_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. Kv12.3/KCNH4 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. Kv12.3/KCNH4 sub-subfamily.
genes like me logo Genes that share domains with KCNH4: view

Function for KCNH4 Gene

Molecular function for KCNH4 Gene

UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current, but shows no inactivation. Channel properties may be modulated by cAMP and subunit assembly.
genes like me logo Genes that share phenotypes with KCNH4: view

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNH4

miRNA for KCNH4 Gene

miRTarBase miRNAs that target KCNH4

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNH4 Gene

Localization for KCNH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH4 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH4 Gene COMPARTMENTS Subcellular localization image for KCNH4 gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for KCNH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNH4: view

Pathways & Interactions for KCNH4 Gene

genes like me logo Genes that share pathways with KCNH4: view

Pathways by source for KCNH4 Gene

1 Qiagen pathway for KCNH4 Gene

Interacting Proteins for KCNH4 Gene

Gene Ontology (GO) - Biological Process for KCNH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000160 phosphorelay signal transduction system IEA --
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 KCNH4: view

No data available for SIGNOR curated interactions for KCNH4 Gene

Drugs & Compounds for KCNH4 Gene

(2) Drugs for KCNH4 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cyclic amp Experimental Pharma 0
Flupirtine maleate Pharma KV7 channel activator 0

(4) Additional Compounds for KCNH4 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 KCNH4 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 KCNH4: view

Transcripts for KCNH4 Gene

mRNA/cDNA for KCNH4 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNH4 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH4 Gene

No ASD Table

Relevant External Links for KCNH4 Gene

GeneLoc Exon Structure for
KCNH4
ECgene alternative splicing isoforms for
KCNH4

Expression for KCNH4 Gene

mRNA expression in normal human tissues for KCNH4 Gene

mRNA differential expression in normal tissues according to GTEx for KCNH4 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x12.4), Brain - Caudate (basal ganglia) (x8.6), Brain - Nucleus accumbens (basal ganglia) (x8.2), and Brain - Cortex (x4.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH4 Gene



SOURCE GeneReport for Unigene cluster for KCNH4 Gene Hs.304081

mRNA Expression by UniProt/SwissProt for KCNH4 Gene

Q9UQ05-KCNH4_HUMAN
Tissue specificity: Detected only in brain, in particular in the telencephalon. Detected in putamen and caudate nucleus, and at lower levels in cerebral cortex, occipital and hippocampus.
genes like me logo Genes that share expression patterns with KCNH4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues and Protein tissue co-expression partners for KCNH4 Gene

Orthologs for KCNH4 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNH4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNH4 35
  • 89.3 (n)
  • 90.78 (a)
KCNH4 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNH4 35
  • 91.38 (n)
  • 92.72 (a)
KCNH4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh4 35
  • 87.35 (n)
  • 89.97 (a)
Kcnh4 16
Kcnh4 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNH4 35
  • 99.57 (n)
  • 99.61 (a)
KCNH4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnh4 35
  • 86.77 (n)
  • 89.85 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNH4 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KCNH4 35
  • 72.1 (n)
  • 71.7 (a)
KCNH4 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNH4 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnh4 35
  • 66.93 (n)
  • 69.46 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnh4 35
  • 66.55 (n)
  • 66.52 (a)
kcnh4 36
  • 49 (a)
OneToMany
KCNH4 (2 of 2) 36
  • 51 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta elk 37
  • 52 (a)
elk 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for KCNH4:
  • 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 KCNH4 Gene

ENSEMBL:
Gene Tree for KCNH4 (if available)
TreeFam:
Gene Tree for KCNH4 (if available)

Paralogs for KCNH4 Gene

(5) SIMAP similar genes for KCNH4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNH4: view

Variants for KCNH4 Gene

Sequence variations from dbSNP and Humsavar for KCNH4 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_035771 A colorectal cancer sample
rs939881 -- 42,170,234(+) CGCCG(C/T)GATGG reference, synonymous-codon
rs2293153 -- 42,176,025(-) CCTGG(C/T)GGGTC intron-variant
rs3785901 -- 42,180,138(+) TTTCC(G/T)CCCTC intron-variant
rs4796774 -- 42,165,873(+) TGACT(A/G)GTAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH4 Gene

Variant ID Type Subtype PubMed ID
nsv908241 CNV Loss 21882294
dgv3169n71 CNV Loss 21882294
nsv908244 CNV Loss 21882294

Variation tolerance for KCNH4 Gene

Residual Variation Intolerance Score: 3.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.37% 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 KCNH4 Gene

Disorders for KCNH4 Gene

Relevant External Links for KCNH4

Genetic Association Database (GAD)
KCNH4
Human Genome Epidemiology (HuGE) Navigator
KCNH4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH4

No disorders were found for KCNH4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNH4 Gene

Publications for KCNH4 Gene

  1. New ether-a-go-go K+ channel family members localized in human telencephalon. (PMID: 10455180) Miyake A. … Furuichi K. (J. Biol. Chem. 1999) 2 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. Distribution and functional properties of human KCNH8 (Elk1) potassium channels. (PMID: 12890647) Zou A. … Wickenden A.D. (Am. J. Physiol. 2003) 3 23
  4. Bimodal regulation of an Elk subfamily K+ channel by phosphatidylinositol 4,5-bisphosphate. (PMID: 26503718) Li X. … Jegla T. (J. Gen. Physiol. 2015) 3
  5. 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

Products for KCNH4 Gene

Sources for KCNH4 Gene

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