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Aliases for KCNH3 Gene

Aliases for KCNH3 Gene

  • Potassium Voltage-Gated Channel Subfamily H Member 3 2 3
  • Potassium Voltage-Gated Channel, Subfamily H (Eag-Related), Member 3 2 3
  • Potassium Channel, Voltage Gated Eag Related Subfamily H, Member 3 3 5
  • Voltage-Gated Potassium Channel Subunit Kv12.2 3 4
  • Ether-A-Go-Go-Like Potassium Channel 2 3 4
  • Brain-Specific Eag-Like Channel 1 3 4
  • ELK Channel 2 3 4
  • BEC1 3 4
  • ELK2 3 4
  • Ether-A-Go-Go K(+) Channel Family Member 3
  • KIAA1282 4
  • Kv12.2 3

External Ids for KCNH3 Gene

Previous GeneCards Identifiers for KCNH3 Gene

  • GC12P050150
  • GC12P049989
  • GC12P049649
  • GC12P048219
  • GC12P049933
  • GC12P046963

Summaries for KCNH3 Gene

Entrez Gene Summary for KCNH3 Gene

  • The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

GeneCards Summary for KCNH3 Gene

KCNH3 (Potassium Voltage-Gated Channel Subfamily H Member 3) is a Protein Coding gene. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. 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 KCNH3 Gene

  • Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly.

Tocris Summary for KCNH3 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 KCNH3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNH3 Gene

Genomics for KCNH3 Gene

Regulatory Elements for KCNH3 Gene

Promoters for KCNH3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNH3 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNH3 Gene

Chromosome:
12
Start:
49,539,041 bp from pter
End:
49,558,308 bp from pter
Size:
19,268 bases
Orientation:
Plus strand

Genomic View for KCNH3 Gene

Genes around KCNH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNH3 Gene

Proteins for KCNH3 Gene

  • Protein details for KCNH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULD8-KCNH3_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily H member 3
    Protein Accession:
    Q9ULD8
    Secondary Accessions:
    • Q9UQ06

    Protein attributes for KCNH3 Gene

    Size:
    1083 amino acids
    Molecular mass:
    117129 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.
    SequenceCaution:
    • Sequence=BAA86596.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for KCNH3 Gene

Proteomics data for KCNH3 Gene at MOPED

Post-translational modifications for KCNH3 Gene

  • Glycosylation at Asn 421, Asn 428, and Asn 436
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNH3 Gene

Domains & Families for KCNH3 Gene

Gene Families for KCNH3 Gene

Suggested Antigen Peptide Sequences for KCNH3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULD8

UniProtKB/Swiss-Prot:

KCNH3_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. Kv12.2/KCNH3 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. Kv12.2/KCNH3 sub-subfamily.
genes like me logo Genes that share domains with KCNH3: view

Function for KCNH3 Gene

Molecular function for KCNH3 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,subfamily H (eag-related),member 3,ether-a-go-go K+ channel family member,exclusively expressed in the brain,mainly in the cerebral cortex,amygdala,hippocampus and striatum
UniProtKB/Swiss-Prot Function:
Pore-forming (alpha) subunit of voltage-gated potassium channel. Elicits an outward current with fast inactivation. Channel properties may be modulated by cAMP and subunit assembly.
genes like me logo Genes that share phenotypes with KCNH3: view

Animal Models for KCNH3 Gene

MGI Knock Outs for KCNH3:

Animal Model Products

miRNA for KCNH3 Gene

miRTarBase miRNAs that target KCNH3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNH3 Gene

Localization for KCNH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNH3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNH3 Gene COMPARTMENTS Subcellular localization image for KCNH3 gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for KCNH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNH3: view

Pathways & Interactions for KCNH3 Gene

genes like me logo Genes that share pathways with KCNH3: view

Pathways by source for KCNH3 Gene

1 Qiagen pathway for KCNH3 Gene

Gene Ontology (GO) - Biological Process for KCNH3 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 --
genes like me logo Genes that share ontologies with KCNH3: view

No data available for SIGNOR curated interactions for KCNH3 Gene

Drugs & Compounds for KCNH3 Gene

(3) Drugs for KCNH3 Gene - From: Tocris, HMDB, IUPHAR, and DGIdb

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

(4) Additional Compounds for KCNH3 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
genes like me logo Genes that share compounds with KCNH3: view

Transcripts for KCNH3 Gene

Unigene Clusters for KCNH3 Gene

Potassium voltage-gated channel, subfamily H (eag-related), member 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNH3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: -
SP2:
SP3:

Relevant External Links for KCNH3 Gene

GeneLoc Exon Structure for
KCNH3
ECgene alternative splicing isoforms for
KCNH3

Expression for KCNH3 Gene

mRNA expression in normal human tissues for KCNH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNH3 Gene

This gene is overexpressed in Brain - Cortex (x9.6), Brain - Frontal Cortex (BA9) (x6.5), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Amygdala (x4.9), and Brain - Hippocampus (x4.9).

Protein differential expression in normal tissues from HIPED for KCNH3 Gene

This gene is overexpressed in Colon (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNH3 Gene



SOURCE GeneReport for Unigene cluster for KCNH3 Gene Hs.64064

mRNA Expression by UniProt/SwissProt for KCNH3 Gene

Q9ULD8-KCNH3_HUMAN
Tissue specificity: Detected only in brain, in particular in the telencephalon. Detected in the cerebral cortex, occipital pole, frontal and temporal lobe, putamen, amygdala, hippocampus and caudate nucleus.
genes like me logo Genes that share expression patterns with KCNH3: view

Protein tissue co-expression partners for KCNH3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for KCNH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNH3 35
  • 99.63 (n)
  • 99.72 (a)
KCNH3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNH3 36
  • 96 (a)
OneToOne
KCNH3 35
  • 92.3 (n)
  • 95.9 (a)
dog
(Canis familiaris)
Mammalia KCNH3 35
  • 90.77 (n)
  • 94.22 (a)
KCNH3 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnh3 36
  • 95 (a)
OneToOne
Kcnh3 16
Kcnh3 35
  • 89.6 (n)
  • 95.57 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Kcnh3 35
  • 89.1 (n)
  • 95.38 (a)
lizard
(Anolis carolinensis)
Reptilia KCNH3 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492237 35
  • 61.54 (n)
  • 63.36 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100006614 35
  • 63.85 (n)
  • 62.8 (a)
kcnh3 36
  • 58 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta elk 37
  • 48 (a)
elk 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 48 (a)
OneToMany
Species with no ortholog for KCNH3:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 KCNH3 Gene

ENSEMBL:
Gene Tree for KCNH3 (if available)
TreeFam:
Gene Tree for KCNH3 (if available)

Paralogs for KCNH3 Gene

(6) SIMAP similar genes for KCNH3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with KCNH3: view

Variants for KCNH3 Gene

Sequence variations from dbSNP and Humsavar for KCNH3 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1143872 -- 49,546,038(-) TGTCT(C/T)AGCCC intron-variant
rs1150056 -- 49,538,084(-) TGCCC(G/T)GGGGC upstream-variant-2KB
rs1150057 -- 49,544,030(-) AGCGC(C/T)GCGAT reference, synonymous-codon
rs1150058 -- 49,544,129(-) CGGGC(C/G/T)GGCCC intron-variant
rs1902329 -- 49,546,053(+) ATCCC(C/T)AGGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNH3 Gene

Variant ID Type Subtype PubMed ID
nsv899070 CNV Loss 21882294
nsv832406 CNV Loss 17160897
nsv899071 CNV Loss 21882294

Variation tolerance for KCNH3 Gene

Residual Variation Intolerance Score: 6.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.88; 74.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNH3 Gene

HapMap Linkage Disequilibrium report
KCNH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNH3 Gene

Disorders for KCNH3 Gene

Relevant External Links for KCNH3

Genetic Association Database (GAD)
KCNH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNH3

No disorders were found for KCNH3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KCNH3 Gene

Publications for KCNH3 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. Interaction of human immunodeficiency virus gp120 with the voltage-gated potassium channel BEC1. (PMID: 20638388) Herrmann M. … Mueller-Lantzsch N. (FEBS Lett. 2010) 3
  4. Disruption of the ether-a-go-go K+ channel gene BEC1/KCNH3 enhances cognitive function. (PMID: 19923296) Miyake A. … Katou M. (J. Neurosci. 2009) 3
  5. Distribution and functional properties of human KCNH8 (Elk1) potassium channels. (PMID: 12890647) Zou A. … Wickenden A.D. (Am. J. Physiol. 2003) 3

Products for KCNH3 Gene

Sources for KCNH3 Gene

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