Gene Gene information from NCBI Gene database.
Entrez ID 56479
Gene name Potassium voltage-gated channel subfamily Q member 5
Gene symbol KCNQ5
Synonyms (NCBI Gene)
Kv7.5MRD46
Chromosome 6
Chromosome location 6q13
Summary 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 hete
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs1135401955 T>G Pathogenic Coding sequence variant, missense variant
rs1135401956 C>A Pathogenic Coding sequence variant, missense variant
rs1135401957 G>T Pathogenic Intron variant, genic downstream transcript variant, coding sequence variant, missense variant
rs1135401958 C>A,G Pathogenic Coding sequence variant, missense variant
rs1554201137 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
198
miRTarBase ID miRNA Experiments Reference
MIRT054652 hsa-miR-190a-5p Luciferase reporter assayWestern blot 24446351
MIRT710021 hsa-miR-4282 HITS-CLIP 19536157
MIRT710020 hsa-miR-6507-5p HITS-CLIP 19536157
MIRT710016 hsa-miR-101-3p HITS-CLIP 19536157
MIRT710019 hsa-miR-144-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IBA
GO:0005249 Function Voltage-gated potassium channel activity IDA 10787416, 11159685, 24855057
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005249 Function Voltage-gated potassium channel activity IMP 28669405
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607357 6299 ENSG00000185760
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR82
Protein name Potassium voltage-gated channel subfamily KQT member 5 (KQT-like 5) (Potassium channel subunit alpha KvLQT5) (Voltage-gated potassium channel subunit Kv7.5)
Protein function Pore-forming subunit of the voltage-gated potassium (Kv) channel broadly expressed in brain and involved in the regulation of neuronal excitability (PubMed:10787416, PubMed:10816588, PubMed:11159685, PubMed:28669405). Associates with KCNQ3/Kv7.3
PDB 6B8Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00520 Ion_trans 125 358 Ion transport protein Family
PF03520 KCNQ_channel 447 634 KCNQ voltage-gated potassium channel Family
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in brain and skeletal muscle (PubMed:10787416, PubMed:10816588). In brain, expressed in cerebral cortex, occipital pole, frontal lobe and temporal lobe. Lower levels in hippocampus and putamen. Low to undetectable le
Sequence
MPRHHAGGEEGGAAGLWVKSGAAAAAAGGGRLGSGMKDVESGRGRVLLNSAAARGDGLLL
LGTRAATLGGGGGGLRESRRGKQGARMSLLGKPLSYTSSQSCRRNVKYRRVQNYLYNVLE
RPRGWAFIYHAFVFLLVFGCLILSVFSTIPEHTKLASSCLLILEFVMIVVFGLEFIIRIW
SAGCCCRYRGWQGRLRFARKPFCVIDTIVLIASIAVVSAKTQGNIFATSALRSLRFLQIL
RMVRMDRRGGTWKLLGSVVYAHSKELITAWYIGFLVLIFSSFLVYLVEKDANKEFSTYAD
ALWWGTITLTTIGYGDKTPLTWLGRLLSAGFALLGISFFALPAGILGSGFALKVQEQH
RQ
KHFEKRRNPAANLIQCVWRSYAADEKSVSIATWKPHLKALHTCSPTKKEQGEASSSQKLS
FKERVRMASPRGQSIKSRQASVGDRRSPSTDITAEGSPTKVQKSWSFNDRTRFRPSLRLK
SSQPKPVIDADTALGTDDVYDEKGCQCDVSVEDLTPPLKTVIRAIRIMKFHVAKRKFKET
LRPYDVKDVIEQYSAGHLDMLCRIKSLQTRVDQILGKGQITSDKKSREKITAEHETTDDL
SMLGRVVKVEKQVQSIESKLDCLLDIYQQVLRKG
SASALALASFQIPPFECEQTSDYQSP
VDSKDLSGSAQNSGCLSRSTSANISRGLQFILTPNEFSAQTFYALSPTMHSQATQVPISQ
SDGSAVAATNTIANQINTAPKPAAPTTLQIPPPLPAIKHLPRPETLHPNPAGLQESISDV
TTCLVASKENVQVAQSNLTKDRSMRKSFDMGGETLLSVCPMVPKDLGKSLSVQNLIRSTE
ELNIQLSGSESSGSRGSQDFYPKWRESKLFITDEEVGPEETETDTFDAAPQPAREAAFAS
DSLRTGRSRSSQSICKAGESTDALSLPHVKLK
Sequence length 932
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cholinergic synapse   Voltage gated Potassium channels
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
107
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Global developmental delay Likely pathogenic rs1554210415 RCV001255392
Intellectual disability, autosomal dominant 46 Pathogenic; Likely pathogenic rs2150391860, rs530101249, rs1771729432, rs1765561142, rs2481569360, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554210418, rs1554201137, rs1775232605, rs1776322078, rs2533593552 RCV002210922
RCV003224776
RCV003225630
RCV003592388
RCV004515769
RCV000496965
RCV000496963
RCV000496964
RCV000496966
RCV006249658
RCV001336257
RCV000987738
RCV001252273
RCV001264730
RCV001270415
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs45536838 RCV005921130
Cleft palate Conflicting classifications of pathogenicity rs549110435 RCV005623395
Hereditary ataxia Likely benign rs201200702 RCV005626548
Intellectual disability Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs1167542831, rs549110435, rs191331629, rs771263285 RCV005626881
RCV001252271
RCV001252272
RCV001257745
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Allergic Fungal Sinusitis Associate 24595210
Amyotrophic Lateral Sclerosis Associate 33417599
Autism Spectrum Disorder Associate 37407249
Autistic Disorder Associate 29904178
Brain Diseases Associate 28669405
Colorectal Neoplasms Associate 23975090, 31727158, 33892797
Depressive Disorder Treatment Resistant Associate 28669405
Developmental Disabilities Associate 29904178
Diarrhea Associate 25127363
Disease Associate 25127363, 33417599