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Aliases for KCNH4 Gene

Aliases for KCNH4 Gene

  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 4 2 3
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 4 2 3
  • 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
  • Potassium Voltage-Gated Channel Subfamily H Member 4 3
  • 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 Channel, Voltage Gated Eag Related Subfamily H, Member 4) is a Protein Coding gene. Diseases associated with KCNH4 include campylobacteriosis. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include voltage-gated potassium channel activity and phosphorelay sensor kinase 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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNH4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    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 Asn326, Asn414, and Asn473
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNH4 Gene

Domains for KCNH4 Gene

Gene Families for KCNH4 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

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 :
  • Q9UQ05
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

Gene Ontology (GO) - Molecular Function for KCNH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000155 phosphorelay sensor kinase activity IEA --
GO:0004871 signal transducer activity --
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with KCNH4: view

Phenotypes for KCNH4 Gene

GenomeRNAi human phenotypes for KCNH4:
genes like me logo Genes that share phenotypes with KCNH4: view

Animal Model Products

CRISPR Products

miRNA for KCNH4 Gene

miRTarBase miRNAs that target KCNH4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 4
nucleus 2

Gene Ontology (GO) - Cellular Components for KCNH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex TAS 10455180
GO:0016020 membrane --
genes like me logo Genes that share ontologies with KCNH4: view

Pathways for KCNH4 Gene

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

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:0006355 regulation of transcription, DNA-templated --
GO:0006811 ion transport --
GO:0006813 potassium ion transport TAS 10455180
GO:0007165 signal transduction --
genes like me logo Genes that share ontologies with KCNH4: view

Compounds for KCNH4 Gene

(5) Tocris Compounds for KCNH4 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]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(1) HMDB Compounds for KCNH4 Gene

Compound Synonyms Cas Number PubMed IDs
Cyclic AMP
  • Cyclic AMP
60-92-4
genes like me logo Genes that share compounds with KCNH4: view

Transcripts for KCNH4 Gene

mRNA/cDNA for KCNH4 Gene

(12) Selected AceView cDNA sequences:
(1) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNH4

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KCNH4

Flow Cytometry Products

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) (12.4), Brain - Caudate (basal ganglia) (8.6), Brain - Nucleus accumbens (basal ganglia) (8.2), and Brain - Cortex (4.1).

Integrated Proteomics: protein expression 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 expressions with KCNH4: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia KCNH4 35
  • 99.57 (n)
  • 99.61 (a)
KCNH4 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia KCNH4 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Kcnh4 35
  • 86.77 (n)
  • 89.85 (a)
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 36
  • 36 (a)
OneToMany
elk 37
  • 52 (a)
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

Selected 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 MAF
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
rs7215267 -- 42,182,024(+) CCAAG(C/G)ATGCA upstream-variant-2KB

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

Relevant External Links for KCNH4 Gene

HapMap Linkage Disequilibrium report
KCNH4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH4 Gene

Disorders for KCNH4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for KCNH4 Gene including...

Search for KCNH4 Gene in MalaCards »

(1) University of Copenhagen DISEASES for KCNH4 Gene

Relevant External Links for KCNH4

Genetic Association Database (GAD)
KCNH4
Human Genome Epidemiology (HuGE) Navigator
KCNH4
genes like me logo Genes that share disorders with KCNH4: view

No data available for UniProtKB/Swiss-Prot 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
  2. Distribution and functional properties of human KCNH8 (Elk1) potassium channels. (PMID: 12890647) Zou A. … Wickenden A.D. (Am. J. Physiol. 2003) 3 23
  3. 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
  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 48
  5. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjoeblom T. … Velculescu V.E. (Science 2006) 4

Products for KCNH4 Gene

Sources for KCNH4 Gene

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