Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56479
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily Q member 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNQ5
Synonyms (NCBI Gene) Gene synonyms aliases	Kv7.5, MRD46
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q13
Summary Summary of gene provided in NCBI Entrez 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 hete

Show/Hide all(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

Show/Hide all(198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054652	hsa-miR-190a-5p	Luciferase reporter assay, Western 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
MIRT710018	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT710017	hsa-miR-139-5p	HITS-CLIP	19536157
MIRT710016	hsa-miR-101-3p	HITS-CLIP	19536157
MIRT710015	hsa-miR-5096	HITS-CLIP	19536157
MIRT628063	hsa-miR-543	HITS-CLIP	23824327
MIRT628062	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT607000	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT628061	hsa-miR-675-3p	HITS-CLIP	23824327
MIRT606998	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	24906430
MIRT607820	hsa-miR-5693	HITS-CLIP	24906430
MIRT378601	hsa-miR-194-3p	HITS-CLIP	24906430
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	24906430
MIRT607008	hsa-miR-5194	HITS-CLIP	24906430
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	24906430
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	24906430
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	24906430
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT607003	hsa-miR-4455	HITS-CLIP	24906430
MIRT607002	hsa-miR-3650	HITS-CLIP	24906430
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	24906430
MIRT607000	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	24906430
MIRT606998	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	24906430
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	24906430
MIRT607008	hsa-miR-5194	HITS-CLIP	24906430
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	24906430
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	24906430
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	24906430
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	24906430
MIRT607003	hsa-miR-4455	HITS-CLIP	24906430
MIRT607002	hsa-miR-3650	HITS-CLIP	24906430
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	24906430
MIRT607000	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	24906430
MIRT606998	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	27418678
MIRT607006	hsa-miR-1249-5p	HITS-CLIP	27418678
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	27418678
MIRT607009	hsa-miR-1914-3p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT575619	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607002	hsa-miR-3650	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607003	hsa-miR-4455	HITS-CLIP	27418678
MIRT607008	hsa-miR-5194	HITS-CLIP	27418678
MIRT607008	hsa-miR-5194	HITS-CLIP	27418678
MIRT628063	hsa-miR-543	HITS-CLIP	27418678
MIRT628063	hsa-miR-543	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT575616	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	27418678
MIRT606999	hsa-miR-6515-5p	HITS-CLIP	27418678
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	27418678
MIRT607007	hsa-miR-6738-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT607004	hsa-miR-6747-5p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT575617	hsa-miR-675-3p	HITS-CLIP	27418678
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT607010	hsa-miR-6782-5p	HITS-CLIP	27418678
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	27418678
MIRT607005	hsa-miR-6797-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	27418678
MIRT607001	hsa-miR-7847-3p	HITS-CLIP	27418678
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
MIRT710018	hsa-miR-4999-3p	HITS-CLIP	19536157
MIRT710017	hsa-miR-139-5p	HITS-CLIP	19536157
MIRT710016	hsa-miR-101-3p	HITS-CLIP	19536157
MIRT710015	hsa-miR-5096	HITS-CLIP	19536157
MIRT628063	hsa-miR-543	HITS-CLIP	23824327
MIRT575619	hsa-miR-223-5p	HITS-CLIP	23824327
MIRT575618	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT575617	hsa-miR-675-3p	HITS-CLIP	23824327
MIRT575616	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1082355	hsa-miR-1207-5p	CLIP-seq
MIRT1082356	hsa-miR-182	CLIP-seq
MIRT1082357	hsa-miR-193a-3p	CLIP-seq
MIRT1082358	hsa-miR-193b	CLIP-seq
MIRT1082359	hsa-miR-200b	CLIP-seq
MIRT1082360	hsa-miR-200c	CLIP-seq
MIRT1082361	hsa-miR-3173-3p	CLIP-seq
MIRT1082362	hsa-miR-3940-5p	CLIP-seq
MIRT1082363	hsa-miR-429	CLIP-seq
MIRT1082364	hsa-miR-4428	CLIP-seq
MIRT1082365	hsa-miR-4470	CLIP-seq
MIRT1082366	hsa-miR-4506	CLIP-seq
MIRT1082367	hsa-miR-4507	CLIP-seq
MIRT1082368	hsa-miR-4736	CLIP-seq
MIRT1082369	hsa-miR-4763-3p	CLIP-seq
MIRT1082370	hsa-miR-892b	CLIP-seq
MIRT1082355	hsa-miR-1207-5p	CLIP-seq
MIRT1082357	hsa-miR-193a-3p	CLIP-seq
MIRT1082358	hsa-miR-193b	CLIP-seq
MIRT1082359	hsa-miR-200b	CLIP-seq
MIRT1082360	hsa-miR-200c	CLIP-seq
MIRT1082361	hsa-miR-3173-3p	CLIP-seq
MIRT1082363	hsa-miR-429	CLIP-seq
MIRT1082364	hsa-miR-4428	CLIP-seq
MIRT1082368	hsa-miR-4736	CLIP-seq
MIRT1082369	hsa-miR-4763-3p	CLIP-seq
MIRT1082370	hsa-miR-892b	CLIP-seq
MIRT1082356	hsa-miR-182	CLIP-seq
MIRT1082371	hsa-miR-196a	CLIP-seq
MIRT1082372	hsa-miR-196b	CLIP-seq
MIRT1082373	hsa-miR-331-5p	CLIP-seq
MIRT1082374	hsa-miR-361-3p	CLIP-seq
MIRT1082375	hsa-miR-3908	CLIP-seq
MIRT1082376	hsa-miR-3927	CLIP-seq
MIRT1082377	hsa-miR-3938	CLIP-seq
MIRT1082362	hsa-miR-3940-5p	CLIP-seq
MIRT1082378	hsa-miR-3942-5p	CLIP-seq
MIRT1082379	hsa-miR-4271	CLIP-seq
MIRT1082380	hsa-miR-4452	CLIP-seq
MIRT1082365	hsa-miR-4470	CLIP-seq
MIRT1082366	hsa-miR-4506	CLIP-seq
MIRT1082367	hsa-miR-4507	CLIP-seq
MIRT1082381	hsa-miR-4540	CLIP-seq
MIRT1082382	hsa-miR-4703-3p	CLIP-seq
MIRT1082383	hsa-miR-4703-5p	CLIP-seq
MIRT1082384	hsa-miR-4716-3p	CLIP-seq
MIRT1082385	hsa-miR-4725-3p	CLIP-seq
MIRT1082386	hsa-miR-4766-3p	CLIP-seq
MIRT1082387	hsa-miR-625	CLIP-seq
MIRT1082388	hsa-miR-297	CLIP-seq
MIRT1082374	hsa-miR-361-3p	CLIP-seq
MIRT1082381	hsa-miR-4540	CLIP-seq
MIRT1082389	hsa-miR-567	CLIP-seq
MIRT1550423	hsa-miR-485-3p	CLIP-seq
MIRT1082371	hsa-miR-196a	CLIP-seq
MIRT1082372	hsa-miR-196b	CLIP-seq
MIRT1082373	hsa-miR-331-5p	CLIP-seq
MIRT1082376	hsa-miR-3927	CLIP-seq
MIRT1082377	hsa-miR-3938	CLIP-seq
MIRT1082380	hsa-miR-4452	CLIP-seq
MIRT2020505	hsa-miR-4699-5p	CLIP-seq
MIRT1082382	hsa-miR-4703-3p	CLIP-seq
MIRT2252243	hsa-miR-4670-3p	CLIP-seq
MIRT2252244	hsa-miR-4694-5p	CLIP-seq
MIRT2252245	hsa-miR-548p	CLIP-seq
MIRT2389691	hsa-miR-3647-3p	CLIP-seq
MIRT2555549	hsa-miR-1470	CLIP-seq
MIRT2555550	hsa-miR-148a	CLIP-seq
MIRT2555551	hsa-miR-148b	CLIP-seq
MIRT2555552	hsa-miR-152	CLIP-seq
MIRT2555553	hsa-miR-208a	CLIP-seq
MIRT2555554	hsa-miR-208b	CLIP-seq
MIRT2555555	hsa-miR-3667-5p	CLIP-seq
MIRT2555556	hsa-miR-4469	CLIP-seq
MIRT2555557	hsa-miR-4667-3p	CLIP-seq
MIRT2555558	hsa-miR-4766-5p	CLIP-seq
MIRT2555559	hsa-miR-499-5p	CLIP-seq
MIRT2555560	hsa-miR-512-3p	CLIP-seq
MIRT2555549	hsa-miR-1470	CLIP-seq
MIRT2555550	hsa-miR-148a	CLIP-seq
MIRT2555551	hsa-miR-148b	CLIP-seq
MIRT2555552	hsa-miR-152	CLIP-seq
MIRT2555553	hsa-miR-208a	CLIP-seq
MIRT2555554	hsa-miR-208b	CLIP-seq
MIRT2555555	hsa-miR-3667-5p	CLIP-seq
MIRT2555556	hsa-miR-4469	CLIP-seq
MIRT2555557	hsa-miR-4667-3p	CLIP-seq
MIRT2555558	hsa-miR-4766-5p	CLIP-seq
MIRT2555559	hsa-miR-499-5p	CLIP-seq
MIRT2555560	hsa-miR-512-3p	CLIP-seq

Show/Hide all(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
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	24855057
GO:0005886	Component	Plasma membrane	IDA	10787416, 11159685
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	10787416, 11159685
GO:0016020	Component	Membrane	IEA
GO:0030118	Component	Clathrin coat	IDA	24855057
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0044305	Component	Calyx of Held	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	10787416, 11159685
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	28669405
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA

MIM	HGNC	e!Ensembl
607357	6299	ENSG00000185760

Protein

UniProt ID

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
ALWWGTITLTTIGYGDKTPLTWLGRLLSAGFALLGISFFALPAGILGSGFALKVQEQHRQ
KHFEKRRNPAANLIQCVWRSYAADEKSVSIATWKPHLKALHTCSPTKKEQGEASSSQKLS
FKERVRMASPRGQSIKSRQASVGDRRSPSTDITAEGSPTKVQKSWSFNDRTRFRPSLRLK
SSQPKPVIDADTALGTDDVYDEKGCQCDVSVEDLTPPLKTVIRAIRIMKFHVAKRKFKET
LRPYDVKDVIEQYSAGHLDMLCRIKSLQTRVDQILGKGQITSDKKSREKITAEHETTDDL
SMLGRVVKVEKQVQSIESKLDCLLDIYQQVLRKGSASALALASFQIPPFECEQTSDYQSP
VDSKDLSGSAQNSGCLSRSTSANISRGLQFILTPNEFSAQTFYALSPTMHSQATQVPISQ
SDGSAVAATNTIANQINTAPKPAAPTTLQIPPPLPAIKHLPRPETLHPNPAGLQESISDV
TTCLVASKENVQVAQSNLTKDRSMRKSFDMGGETLLSVCPMVPKDLGKSLSVQNLIRSTE
ELNIQLSGSESSGSRGSQDFYPKWRESKLFITDEEVGPEETETDTFDAAPQPAREAAFAS
DSLRTGRSRSSQSICKAGESTDALSLPHVKLK

Sequence length

932

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse		Voltage gated Potassium channels

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	Intellectual disability, autosomal dominant 46	rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554201137	N/A
Developmental Delay	global developmental delay	rs1554210415	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Dementia	Dementia	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Hyperopia	Hyperopia	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Myopia	Myopia	N/A	N/A	GWAS
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability	N/A	N/A	GenCC
Periodontitis	Periodontitis	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Ehlers Danlos syndrome type 3	Associate	27518164
Epilepsy	Associate	38428481
Epilepsy Generalized	Associate	38428481
Epileptic Encephalopathy Early Infantile 3	Associate	35377796
HIV Infections	Associate	26039976
Inflammation	Associate	26434682, 27518164
Intellectual Disability	Associate	28669405
Irritable Bowel Syndrome	Associate	25127363
Joint Instability	Associate	27518164
Leukemia Myeloid Acute	Stimulate	35413218
Mental Disorders	Associate	25571521
Multiple Myeloma	Associate	31948430
Multiple Sclerosis	Associate	33417599
Myopia	Associate	28884119, 36395078
Neoplasms	Associate	25127363
Nerve Degeneration	Associate	38428481
Neurologic Manifestations	Associate	28669405
Pain	Associate	27518164
Refractive Errors	Associate	28884119

KCNQ5 (potassium voltage-gated channel subfamily Q member 5)