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Aliases for KCNQ5 Gene

Aliases for KCNQ5 Gene

  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 5 2 3
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 5 2 3
  • Voltage-Gated Potassium Channel Subunit Kv7.5 3 4
  • Potassium Channel Subunit Alpha KvLQT5 3 4
  • KQT-Like 5 3 4
  • Potassium Channel Protein 3
  • Kv7.5 3

External Ids for KCNQ5 Gene

Previous GeneCards Identifiers for KCNQ5 Gene

  • GC06P073290
  • GC06P073327
  • GC06P073388
  • GC06P073331
  • GC06P070530

Summaries for KCNQ5 Gene

Entrez Gene Summary for KCNQ5 Gene

  • This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents that activate slowly with depolarization and can form heteromeric channels with the protein encoded by the KCNQ3 gene. Currents expressed from this protein have voltage dependences and inhibitor sensitivities in common with M-currents. They are also inhibited by M1 muscarinic receptor activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

GeneCards Summary for KCNQ5 Gene

KCNQ5 (Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 5) is a Protein Coding gene. Diseases associated with KCNQ5 include benign neonatal seizures and refractive error. Among its related pathways are Transmission across Chemical Synapses and Circadian entrainment. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNQ4.

UniProtKB/Swiss-Prot for KCNQ5 Gene

  • Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels were coexpressed with M(1) muscarinic receptors

Gene Wiki entry for KCNQ5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ5 Gene

Genomics for KCNQ5 Gene

Regulatory Elements for KCNQ5 Gene

Epigenetics Products

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

Genomic Location for KCNQ5 Gene

Chromosome:
6
Start:
72,621,280 bp from pter
End:
73,198,851 bp from pter
Size:
577,572 bases
Orientation:
Plus strand

Genomic View for KCNQ5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNQ5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ5 Gene

Proteins for KCNQ5 Gene

  • Protein details for KCNQ5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR82-KCNQ5_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 5
    Protein Accession:
    Q9NR82
    Secondary Accessions:
    • A6NKT6
    • A6PVT6
    • A8MSQ5
    • B4DS33
    • B5MC83
    • B7ZL37
    • F5GZV0
    • Q17RE1
    • Q5VVP3
    • Q86W40
    • Q9NRN0
    • Q9NYA6

    Protein attributes for KCNQ5 Gene

    Size:
    932 amino acids
    Molecular mass:
    102179 Da
    Quaternary structure:
    • Heteromultimer with KCNQ3
    SequenceCaution:
    • Sequence=BAG61495.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNQ5 Gene

neXtProt entry for KCNQ5 Gene

Proteomics data for KCNQ5 Gene at MOPED

Post-translational modifications for KCNQ5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for KCNQ5 Gene

Domains & Families for KCNQ5 Gene

Gene Families for KCNQ5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NR82

UniProtKB/Swiss-Prot:

KCNQ5_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. KQT (TC 1.A.1.15) subfamily. Kv7.5/KCNQ5 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. KQT (TC 1.A.1.15) subfamily. Kv7.5/KCNQ5 sub-subfamily.
genes like me logo Genes that share domains with KCNQ5: view

Function for KCNQ5 Gene

Molecular function for KCNQ5 Gene

UniProtKB/Swiss-Prot Function:
Probably important in the regulation of neuronal excitability. Associates with KCNQ3 to form a potassium channel which contributes to M-type current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons. May contribute, with other potassium channels, to the molecular diversity of a heterogeneous population of M-channels, varying in kinetic and pharmacological properties, which underlie this physiologically important current. Insensitive to tetraethylammonium, but inhibited by barium, linopirdine and XE991. Activated by niflumic acid and the anticonvulsant retigabine. Muscarine suppresses KCNQ5 current in Xenopus oocytes in which cloned KCNQ5 channels were coexpressed with M(1) muscarinic receptors

Gene Ontology (GO) - Molecular Function for KCNQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005242 inward rectifier potassium channel activity TAS 10787416
GO:0005249 voltage-gated potassium channel activity --
GO:0005251 delayed rectifier potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNQ5: view

Phenotypes for KCNQ5 Gene

genes like me logo Genes that share phenotypes with KCNQ5: view

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for KCNQ5 Gene

Localization for KCNQ5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNQ5 Gene COMPARTMENTS Subcellular localization image for KCNQ5 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for KCNQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with KCNQ5: view

Pathways & Interactions for KCNQ5 Gene

genes like me logo Genes that share pathways with KCNQ5: view

Pathways by source for KCNQ5 Gene

1 Qiagen pathway for KCNQ5 Gene
1 PharmGKB pathway for KCNQ5 Gene
1 KEGG pathway for KCNQ5 Gene

Gene Ontology (GO) - Biological Process for KCNQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 10787416
GO:0006811 ion transport --
GO:0006813 potassium ion transport --
GO:0007268 synaptic transmission TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNQ5: view

No data available for SIGNOR curated interactions for KCNQ5 Gene

Drugs & Compounds for KCNQ5 Gene

(10) Drugs for KCNQ5 Gene - From: DGIdb, IUPHAR, NovoSeek, DrugBank, HMDB, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezogabine Approved Pharma Activator, activator, Target 26
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1013
tetraethylammonium Experimental Pharma Inhibitor 1
Potassium Experimental Pharma 0
ICA-105665 Investigational Pharma activator, Target 0

(2) Additional Compounds for KCNQ5 Gene - From: IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BMS204352
Activator
N-(S)-MPEPAamide
Activator
genes like me logo Genes that share compounds with KCNQ5: view

Transcripts for KCNQ5 Gene

Unigene Clusters for KCNQ5 Gene

Potassium voltage-gated channel, KQT-like subfamily, member 5:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ5 Gene

No ASD Table

Relevant External Links for KCNQ5 Gene

GeneLoc Exon Structure for
KCNQ5
ECgene alternative splicing isoforms for
KCNQ5

Expression for KCNQ5 Gene

mRNA expression in normal human tissues for KCNQ5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNQ5 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.2), Muscle - Skeletal (x6.2), Brain - Anterior cingulate cortex (BA24) (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.5), Brain - Cortex (x5.0), Brain - Putamen (basal ganglia) (x4.5), and Brain - Caudate (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for KCNQ5 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.1) and Heart (33.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNQ5 Gene



SOURCE GeneReport for Unigene cluster for KCNQ5 Gene Hs.445324

mRNA Expression by UniProt/SwissProt for KCNQ5 Gene

Q9NR82-KCNQ5_HUMAN
Tissue specificity: Strongly expressed in brain and skeletal muscle. In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable levels in medulla, cerebellum and thalamus
genes like me logo Genes that share expression patterns with KCNQ5: view

Protein tissue co-expression partners for KCNQ5 Gene

Primer Products

In Situ Assay Products

Orthologs for KCNQ5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNQ5 35
  • 83.55 (n)
  • 88.5 (a)
KCNQ5 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNQ5 35
  • 95.13 (n)
  • 97.79 (a)
KCNQ5 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq5 35
  • 90.34 (n)
  • 95.49 (a)
Kcnq5 16
Kcnq5 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNQ5 35
  • 99.65 (n)
  • 99.79 (a)
KCNQ5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnq5 35
  • 90.35 (n)
  • 95.16 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNQ5 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ5 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNQ5 35
  • 77.75 (n)
  • 82.47 (a)
KCNQ5 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNQ5 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq5 35
  • 74.78 (n)
  • 78.89 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnq5a 35
  • 64.46 (n)
  • 68.69 (a)
kcnq5a 36
  • 60 (a)
OneToMany
kcnq5b 36
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kqt-1 37
  • 45 (a)
kqt-2 37
  • 30 (a)
kqt-1 35
  • 53.87 (n)
  • 48.15 (a)
kqt-2 36
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 57 (a)
OneToMany
Species with no ortholog for KCNQ5:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)

Evolution for KCNQ5 Gene

ENSEMBL:
Gene Tree for KCNQ5 (if available)
TreeFam:
Gene Tree for KCNQ5 (if available)

Paralogs for KCNQ5 Gene

Paralogs for KCNQ5 Gene

(4) SIMAP similar genes for KCNQ5 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with KCNQ5: view

Variants for KCNQ5 Gene

Sequence variations from dbSNP and Humsavar for KCNQ5 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs719830 -- 72,722,245(+) GGCAT(A/G)CTGTC intron-variant
rs867262 -- 72,868,456(-) GTTAA(C/T)AGGCC intron-variant
rs878523 -- 73,165,532(+) TGACC(A/G)CATTG intron-variant
rs884957 -- 73,157,327(-) CAGCC(C/T)TTTTC intron-variant
rs910355 -- 72,740,598(+) TGGAT(A/G)TAGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNQ5 Gene

Variant ID Type Subtype PubMed ID
nsv823730 CNV Loss 20364138
dgv1130e199 CNV Deletion 23128226
nsv463152 CNV Loss 19166990
dgv86n68 CNV Gain 17160897
nsv510037 CNV Loss 20534489
nsv886154 CNV Loss 21882294
nsv483033 CNV Gain 15286789
nsv830691 CNV Gain 17160897
nsv470834 CNV Loss 18288195
nsv886155 CNV Loss 21882294
nsv886156 CNV Loss 21882294
esv2220817 CNV Deletion 18987734
esv2732279 CNV Deletion 23290073
esv2732280 CNV Deletion 23290073
esv2732281 CNV Deletion 23290073
esv2666317 CNV Deletion 23128226
nsv349877 CNV Loss 16902084
esv2179651 CNV Deletion 18987734
esv2732282 CNV Deletion 23290073
esv2732283 CNV Deletion 23290073
nsv521957 CNV Gain 19592680
esv273861 CNV Insertion 20981092
esv2658922 CNV Deletion 23128226
nsv519218 CNV Gain 19592680
nsv525926 CNV Loss 19592680
esv1004012 CNV Deletion 20482838
nsv823732 CNV Loss 20364138

Variation tolerance for KCNQ5 Gene

Residual Variation Intolerance Score: 3.72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.06; 50.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNQ5 Gene

HapMap Linkage Disequilibrium report
KCNQ5
Human Gene Mutation Database (HGMD)
KCNQ5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ5 Gene

Disorders for KCNQ5 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KCNQ5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
benign neonatal seizures
  • benign familial neonatal epilepsy
refractive error
  • eye refraction disorder
neonatal period electroclinical syndrome
hypokalemic periodic paralysis, type 1
  • hypokalemic periodic paralysis
- elite association
Search KCNQ5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNQ5

Genetic Association Database (GAD)
KCNQ5
Human Genome Epidemiology (HuGE) Navigator
KCNQ5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ5
genes like me logo Genes that share disorders with KCNQ5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNQ5 Gene

Publications for KCNQ5 Gene

  1. KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents. (PMID: 10816588) Schroeder B.C. … Jentsch T.J. (J. Biol. Chem. 2000) 2 23 67
  2. Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity. (PMID: 10787416) Lerche C. … Steinmeyer K. (J. Biol. Chem. 2000) 2 23 67
  3. In situ measurement of airway surface liquid [K+] using a ratioable K+-sensitive fluorescent dye. (PMID: 19364771) Namkung W. … Verkman A.S. (J. Biol. Chem. 2009) 23 67
  4. Skeletal muscle Kv7 (KCNQ) channels in myoblast differentiation and proliferation. (PMID: 18331828) Roura-Ferrer M. … Felipe A. (Biochem. Biophys. Res. Commun. 2008) 23 67
  5. Molecular pharmacology and therapeutic potential of neuronal Kv7-modulating drugs. (PMID: 18061539) Miceli F. … Taglialatela M. (Curr Opin Pharmacol 2008) 23 67

Products for KCNQ5 Gene

Sources for KCNQ5 Gene

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