Human Gene KCNQ5 (ENST00000342056.6) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily Q member 5 (KCNQ5), transcript variant 4, mRNA. (from RefSeq NM_001160133)
RefSeq Summary (NM_001160133): 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].
Gencode Transcript: ENST00000342056.6
Gencode Gene: ENSG00000185760.18
Transcript (Including UTRs)
   Position: hg38 chr6:72,621,792-73,198,848 Size: 577,057 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr6:72,622,190-73,195,414 Size: 573,225 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:72,621,792-73,198,848)mRNA (may differ from genome)Protein (951 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNQ5_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily KQT member 5; AltName: Full=KQT-like 5; AltName: Full=Potassium channel subunit alpha KvLQT5; AltName: Full=Voltage-gated potassium channel subunit Kv7.5;
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.
SUBUNIT: Heteromultimer with KCNQ3.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
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.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position (By similarity).
SIMILARITY: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.5/KCNQ5 sub-subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNQ5
Diseases sorted by gene-association score: mental retardation, autosomal dominant 46* (900), benign neonatal seizures (10), refractive error (7), neonatal period electroclinical syndrome (4), hypokalemic periodic paralysis, type 1 (4), long qt syndrome 1 (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.99 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 70.27 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -194.00398-0.487 Picture PostScript Text
3' UTR -811.603434-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003937 - K_chnl_volt-dep_KCNQ
IPR013821 - K_chnl_volt-dep_KCNQ_C

Pfam Domains:
PF00520 - Ion transport protein
PF03520 - KCNQ voltage-gated potassium channel

ModBase Predicted Comparative 3D Structure on Q9NR82
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005267 potassium channel activity
GO:0005515 protein binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030118 clathrin coat


-  Descriptions from all associated GenBank mRNAs
  AF249278 - Homo sapiens voltage-gated potassium channel (KCNQ5) mRNA, complete cds.
BC050689 - Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5, mRNA (cDNA clone IMAGE:6137109), complete cds.
BC117359 - Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5, mRNA (cDNA clone MGC:150968 IMAGE:40125910), complete cds.
BC143554 - Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5, mRNA (cDNA clone MGC:177082 IMAGE:9052065), complete cds.
BC143555 - Homo sapiens cDNA clone IMAGE:9052066.
AK299550 - Homo sapiens cDNA FLJ61366 complete cds, highly similar to Potassium voltage-gated channel subfamily KQT member 5.
AF202977 - Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5) mRNA, complete cds.
AF263835 - Homo sapiens voltage-gated potassium channel KCNQ5 (KCNQ5) mRNA, partial cds.
AK316070 - Homo sapiens cDNA, FLJ78969 complete cds, highly similar to Potassium voltage-gated channel subfamily KQT member 5.
AK299741 - Homo sapiens cDNA FLJ56831 complete cds, highly similar to Potassium voltage-gated channel subfamily KQT member 5.
JD409613 - Sequence 390637 from Patent EP1572962.
JD230442 - Sequence 211466 from Patent EP1572962.
JD244103 - Sequence 225127 from Patent EP1572962.
JD512130 - Sequence 493154 from Patent EP1572962.
JD502330 - Sequence 483354 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_raccPathway - Ion Channels and Their Functional Role in Vascular Endothelium

Reactome (by CSHL, EBI, and GO)

Protein Q9NR82 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: B5MC83, B7ZL37, ENST00000342056.1, ENST00000342056.2, ENST00000342056.3, ENST00000342056.4, ENST00000342056.5, KCNQ5_HUMAN, NM_001160133, Q17RE1, Q5VVP3, Q86W40, Q9NR82, Q9NRN0, Q9NYA6, uc011dyh.1, uc011dyh.2, uc011dyh.3
UCSC ID: ENST00000342056.6
RefSeq Accession: NM_001160133
Protein: Q9NR82 (aka KCNQ5_HUMAN or CIQ5_HUMAN)
CCDS: CCDS4976.1, CCDS55034.1, CCDS55037.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.