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Aliases for KCNQ5 Gene

Aliases for KCNQ5 Gene

  • Potassium Voltage-Gated Channel Subfamily Q Member 5 2 3 5
  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, 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 Voltage-Gated Channel, KQT-Like Subfamily, Member 5 2
  • Potassium Voltage-Gated Channel Subfamily KQT Member 5 3
  • 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 Voltage-Gated Channel 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 Circadian entrainment and Potassium Channels. 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

Enhancers for KCNQ5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around KCNQ5 on UCSC Golden Path with GeneCards custom track

Promoters for KCNQ5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

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

Genes around KCNQ5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:11159685). Heterotetramer with KCNQ1; has a voltage-gated potassium channel activity (PubMed:24855057).
    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

Post-translational modifications for KCNQ5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0005242 inward rectifier potassium channel activity TAS 10787416
GO:0005249 voltage-gated potassium channel activity IDA 24855057
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005515 protein binding IPI 24855057
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

  • Taconic Biosciences Mouse Models for KCNQ5

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 5
nucleus 2

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:0030118 clathrin coat IDA 24855057
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 PharmGKB pathway for KCNQ5 Gene
1 KEGG pathway for KCNQ5 Gene
1 Qiagen 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:0006813 potassium ion transport IEA --
GO:0007268 chemical synaptic transmission TAS 10787416
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0071805 potassium 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: DrugBank, PharmGKB, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
retigabine Approved Pharma Activator, activator, Target Activator of voltage-gated potassium channel, an anticonvulsant agent 27
Potassium Approved Pharma 0
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1062
tetraethylammonium Experimental Pharma Inhibitor 1
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:

CRISPR Products

Clone Products

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



Protein tissue co-expression partners for KCNQ5 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNQ5 Gene:

KCNQ5

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

Primer 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 34
  • 83.55 (n)
  • 88.5 (a)
KCNQ5 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNQ5 34
  • 95.13 (n)
  • 97.79 (a)
KCNQ5 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq5 34
  • 90.34 (n)
  • 95.49 (a)
Kcnq5 16
Kcnq5 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNQ5 34
  • 99.65 (n)
  • 99.79 (a)
KCNQ5 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnq5 34
  • 90.35 (n)
  • 95.16 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNQ5 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ5 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNQ5 34
  • 77.75 (n)
  • 82.47 (a)
KCNQ5 35
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNQ5 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq5 34
  • 74.78 (n)
  • 78.89 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnq5a 34
  • 64.46 (n)
  • 68.69 (a)
kcnq5a 35
  • 60 (a)
OneToMany
kcnq5b 35
  • 58 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kqt-1 36
  • 45 (a)
kqt-2 36
  • 30 (a)
kqt-1 34
  • 53.87 (n)
  • 48.15 (a)
kqt-2 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 57 (a)
OneToMany
Species where no ortholog for KCNQ5 was found in the sources mined by GeneCards:
  • 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
VAR_035772 A colorectal cancer sample
VAR_035773 A colorectal cancer sample
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

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

Variant ID Type Subtype PubMed ID
dgv1130e199 CNV deletion 23128226
dgv395e215 CNV deletion 23714750
dgv86n68 CNV gain 17160897
esv1004012 CNV deletion 20482838
esv2179651 CNV deletion 18987734
esv2220817 CNV deletion 18987734
esv2658922 CNV deletion 23128226
esv2666317 CNV deletion 23128226
esv2732279 CNV deletion 23290073
esv2732280 CNV deletion 23290073
esv2732281 CNV deletion 23290073
esv2732282 CNV deletion 23290073
esv2732283 CNV deletion 23290073
esv3353350 CNV duplication 20981092
esv3417949 CNV insertion 20981092
esv3451124 CNV insertion 20981092
esv3539968 CNV deletion 23714750
esv3571201 CNV loss 25503493
esv3609491 CNV loss 21293372
esv3609492 CNV loss 21293372
esv3609494 CNV loss 21293372
esv3609496 CNV loss 21293372
esv3609497 CNV loss 21293372
esv3890878 CNV loss 25118596
nsv1077476 CNV duplication 25765185
nsv1109796 CNV deletion 24896259
nsv1110797 CNV insertion 24896259
nsv1124090 CNV deletion 24896259
nsv349877 CNV deletion 16902084
nsv463152 CNV loss 19166990
nsv470834 CNV loss 18288195
nsv473061 CNV novel sequence insertion 20440878
nsv476475 CNV novel sequence insertion 20440878
nsv510037 OTHER sequence alteration 20534489
nsv519218 CNV gain 19592680
nsv521957 CNV gain 19592680
nsv525926 CNV loss 19592680
nsv603692 CNV loss 21841781
nsv823730 CNV loss 20364138
nsv823732 CNV loss 20364138
nsv830691 CNV gain 17160897
nsv970142 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
KCNQ5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 seizures
refractive error
  • refractive errors
neonatal period electroclinical syndrome
hypokalemic periodic paralysis, type 1
  • hypokalemic periodic paralysis
- elite association - COSMIC cancer census association via MalaCards
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. 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 3 4 22 65
  2. 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 3 4 22 65
  3. Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on vascular muscle physiology. (PMID: 24855057) Oliveras A. … Felipe A. (Arterioscler. Thromb. Vasc. Biol. 2014) 3 4 65
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 65
  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 46 65

Products for KCNQ5 Gene

Sources for KCNQ5 Gene

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