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 an... See more...

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
  • Potassium Voltage-Gated Channel Subfamily KQT Member 5 3 4
  • Voltage-Gated Potassium Channel Subunit Kv7.5 3 4
  • Potassium Channel Subunit Alpha KvLQT5 3 4
  • KQT-Like 5 3 4
  • Kv7.5 2 3
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 5 2
  • Potassium Channel Protein 3
  • MRD46 3
  • KCNQ5 5

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 Mental Retardation, Autosomal Dominant 46 and Autosomal Dominant Non-Syndromic Intellectual Disability. Among its related pathways are Circadian entrainment and Celecoxib Pathway, Pharmacodynamics. Gene Ontology (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 Summary for KCNQ5 Gene

  • 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. Therefore, it is important in the regulation of neuronal excitability. 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. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1.

Gene Wiki entry for KCNQ5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNQ5 Gene

Genomics for KCNQ5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNQ5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J072619 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 253.9 +0.3 282 5.1 BCLAF1 ZNF207 ZNF600 MYC ZNF592 ATF2 ZSCAN16 ZIC2 ZBTB10 SIN3A KCNQ5 ENSG00000285844 HSALNG0051202 KCNQ5-DT MTO1 HSALNG0051206 KHDC1L
GH06J072860 Enhancer 0.7 Ensembl ENCODE 20.4 +240.1 240074 3.1 FEZF1 PRDM6 BATF HNF4A IKZF1 PRDM1 SCRT2 KCNQ5 piR-36756-075 HSALNG0051213 KHDC1L
GH06J072648 Enhancer 0.9 Ensembl ENCODE 12.1 +28.5 28452 2.7 BCL11A EP300 IRF4 NFE2 PRDM6 BHLHE40 BATF ZNF24 JUND STAT5A KCNQ5 HSALNG0051208 KCNQ5-IT1 HSALNG0051209 KHDC1L
GH06J072864 Enhancer 0.5 Ensembl ENCODE 20.4 +243.8 243820 1.3 ZNF664 SCRT2 KCNQ5 piR-36756-075 HSALNG0051213 KHDC1L
GH06J073129 Enhancer 0.9 ENCODE 11 +508.3 508301 0.2 BCLAF1 MYC ZNF654 ZNF600 ZNF580 ZIC2 CTCF REST ZNF592 SIN3A KCNQ5 KCNQ5-AS1 HSALNG0051214-002 KHDC1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNQ5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNQ5

Top Transcription factor binding sites by QIAGEN in the KCNQ5 gene promoter:
  • AhR
  • aMEF-2
  • Arnt
  • c-Myb
  • Cart-1
  • MEF-2
  • MEF-2A
  • NF-kappaB
  • NF-kappaB1
  • RelA

Genomic Locations for KCNQ5 Gene

Latest Assembly
chr6:72,621,792-73,198,853
(GRCh38/hg38)
Size:
577,062 bases
Orientation:
Plus strand

Previous Assembly
chr6:73,331,792-73,908,576
(GRCh37/hg19 by Entrez Gene)
Size:
576,785 bases
Orientation:
Plus strand

chr6:73,331,520-73,908,574
(GRCh37/hg19 by Ensembl)
Size:
577,055 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, PubMed:10787416). Heterotetramer with KCNQ1; has a voltage-gated potassium channel activity (PubMed:24855057).
    SequenceCaution:
    • Sequence=BAG61495.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNQ5 Gene

    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

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNQ5 Gene

InterPro:
Blocks:
  • KCNQ voltage-gated potassium channel, C-terminal

Suggested Antigen Peptide Sequences for KCNQ5 Gene

GenScript: Design optimal peptide antigens:
  • Potassium voltage-gated channel, KQT-like subfamily, member 5 (A6PVT7_HUMAN)
  • Potassium voltage-gated channel, KQT-like subfamily, member 5 (A6PVT8_HUMAN)
  • Potassium voltage-gated channel, KQT-like subfamily, member 5 (A6PVT9_HUMAN)
  • Voltage-gated potassium channel subunit Kv7.5 (KCNQ5_HUMAN)

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:
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. Therefore, it is important in the regulation of neuronal excitability. 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. As the native M-channel, the potassium channel composed of KCNQ3 and KCNQ5 is also suppressed by activation of the muscarinic acetylcholine receptor CHRM1.

Phenotypes From GWAS Catalog for KCNQ5 Gene

Gene Ontology (GO) - Molecular Function for KCNQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA,IMP 28669405
GO:0005251 delayed rectifier potassium channel activity IBA 21873635
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNQ5: view
genes like me logo Genes that share phenotypes with KCNQ5: view

Human Phenotype Ontology for KCNQ5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for KCNQ5

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNQ5

Clone products for research

  • Addgene plasmids for KCNQ5

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

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNQ5 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KCNQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IDA 10787416
GO:0008076 voltage-gated potassium channel complex IEA,IDA 10787416
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA 21873635
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
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNQ5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IEA,IMP 28669405
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezogabine Approved, Investigational Pharma Activator, Target Activator of voltage-gated potassium channel, an anticonvulsant agent 29
Potassium Approved, Experimental Pharma 0
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2
Gabapentin Approved, Investigational Pharma Target, activator GABA enhancer 440
Miconazole Approved, Investigational, Vet_approved Pharma Target, inhibitor 3164

(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

mRNA/cDNA for KCNQ5 Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNQ5

Clone products for research

  • Addgene plasmids for KCNQ5

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

No ASD Table

Relevant External Links for KCNQ5 Gene

GeneLoc Exon Structure for
KCNQ5

Expression for KCNQ5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for KCNQ5 Gene



Protein tissue co-expression partners for KCNQ5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for KCNQ5 Gene

  • Nervous system(4.7)
  • Eye(4.2)
  • Muscle(2.9)
genes like me logo Genes that share expression patterns with KCNQ5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNQ5 Gene

Orthologs for KCNQ5 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KCNQ5 29 30
  • 99.65 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNQ5 29 30
  • 95.13 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNQ5 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnq5 29
  • 90.35 (n)
Mouse
(Mus musculus)
Mammalia Kcnq5 29 16 30
  • 90.34 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNQ5 29 30
  • 83.55 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ5 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNQ5 29 30
  • 77.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNQ5 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnq5 29
  • 74.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii kcnq5a 29 30
  • 64.46 (n)
OneToMany
kcnq5b 30
  • 58 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea kqt-1 29 31
  • 53.87 (n)
kqt-2 30 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 57 (a)
OneToMany
Species where no ortholog for KCNQ5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNQ5: view image
Alliance of Genome Resources:
Additional Orthologs for KCNQ5

Paralogs for KCNQ5 Gene

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

  • KCNQ5_HUMAN
  • A6PVT6_HUMAN
  • A6PVT7_HUMAN
  • A6PVT8_HUMAN
  • A8MSQ5_HUMAN
  • F8WEA4_HUMAN
  • H0Y3Z0_HUMAN
genes like me logo Genes that share paralogs with KCNQ5: view

Variants for KCNQ5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNQ5 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1013510 Likely Benign: not provided 72,622,427(+) C/T
NM_019842.4(KCNQ5):c.238C>T (p.Arg80Trp)
MISSENSE
1013511 Likely Benign: not provided 72,622,471(+) C/G
NM_019842.4(KCNQ5):c.282C>G (p.Leu94=)
SYNONYMOUS
1013512 Likely Benign: not provided 73,133,577(+) C/T
NM_019842.4(KCNQ5):c.1404C>T (p.Asn468=)
SYNONYMOUS_VARIANT,INTRON
1013513 Uncertain Significance: not provided 73,194,521(+) G/C
NM_019842.4(KCNQ5):c.1906G>C (p.Ala636Pro)
MISSENSE
1027752 Uncertain Significance: Intellectual disability, autosomal dominant 46 73,195,403(+) A/C
NM_019842.4(KCNQ5):c.2788A>C (p.Lys930Gln)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNQ5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for KCNQ5 Gene

Human Gene Mutation Database (HGMD)
KCNQ5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNQ5
Leiden Open Variation Database (LOVD)
KCNQ5

SNP Genotyping and Copy Number Assays for research

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

Disorders for KCNQ5 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KCNQ5 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 46
  • mrd46
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
benign neonatal seizures
  • benign familial neonatal seizures
refractive error
  • refractive errors
degenerative myopia
  • degenerative progressive high myopia
- elite association - COSMIC cancer census association via MalaCards
Search KCNQ5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNQ5_HUMAN
  • Mental retardation, autosomal dominant 46 (MRD46) [MIM:617601]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD46 patients manifest developmental delay and mild to moderate intellectual disability. {ECO:0000269 PubMed:28669405}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for KCNQ5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNQ5: view

No data available for 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 (The Journal of biological chemistry 2000) 2 3 4 22
  2. KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents. (PMID: 10816588) Schroeder BC … Jentsch TJ (The Journal of biological chemistry 2000) 2 3 4 22
  3. Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy. (PMID: 28669405) Lehman A … Claydon T (American journal of human genetics 2017) 3 4 72
  4. Functional assembly of Kv7.1/Kv7.5 channels with emerging properties on vascular muscle physiology. (PMID: 24855057) Oliveras A … Felipe A (Arteriosclerosis, thrombosis, and vascular biology 2014) 3 4
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40

Products for KCNQ5 Gene

Sources for KCNQ5 Gene