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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9132
Gene name	Potassium voltage-gated channel subfamily Q member 4
Gene symbol	KCNQ4
Synonyms (NCBI Gene)	DFNA2DFNA2AKV7.4
Chromosome	1
Chromosome location	1p34.2
Summary	The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarini

Show/Hide all (31)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937588	G>A,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs28939710	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs80358271	AGCGCTCCTCGGC>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs80358272	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs80358273	C>G	Pathogenic	Upstream transcript variant, genic upstream transcript variant, missense variant, coding sequence variant
rs80358274	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs80358275	A>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs80358276	T>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs80358277	G>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs80358278	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs80358279	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs137853969	G>C	Pathogenic, not-provided	5 prime UTR variant, missense variant, coding sequence variant
rs727504635	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs772135867	C>T	Pathogenic	Missense variant, coding sequence variant
rs797044965	T>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs797044966	CCT>-	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, inframe deletion, 5 prime UTR variant
rs797044967	T>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs797044968	T>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs797044969	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs797044970	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs797044971	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs797044972	TGCCTGGC>-	Pathogenic	Splice acceptor variant, coding sequence variant
rs886042324	G>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant
rs956666801	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 5 prime UTR variant
rs1057518095	G>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1064796365	A>G	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1271250198	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1553165199	->GC	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553168601	->ACGAC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557977732	CTACAACGT>-	Pathogenic	Inframe deletion, coding sequence variant, genic upstream transcript variant
rs1558014576	G>T	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant

Show/Hide all (70)

miRTarBase ID	miRNA	Experiments
MIRT1082330	hsa-miR-1293	CLIP-seq
MIRT737721	hsa-miR-148a	CLIP-seq
MIRT737722	hsa-miR-148b	CLIP-seq
MIRT737723	hsa-miR-152	CLIP-seq
MIRT1082331	hsa-miR-342-5p	CLIP-seq
MIRT737729	hsa-miR-3665	CLIP-seq
MIRT1082332	hsa-miR-4433	CLIP-seq
MIRT1082333	hsa-miR-4481	CLIP-seq
MIRT1082334	hsa-miR-4483	CLIP-seq
MIRT1082335	hsa-miR-4651	CLIP-seq
MIRT1082336	hsa-miR-4664-5p	CLIP-seq
MIRT1082337	hsa-miR-4682	CLIP-seq
MIRT1082338	hsa-miR-4745-5p	CLIP-seq
MIRT1082339	hsa-miR-4758-5p	CLIP-seq
MIRT1082340	hsa-miR-4792	CLIP-seq
MIRT1082341	hsa-miR-608	CLIP-seq
MIRT737730	hsa-miR-657	CLIP-seq
MIRT1082342	hsa-miR-665	CLIP-seq
MIRT1082343	hsa-miR-760	CLIP-seq
MIRT1082344	hsa-miR-2467-3p	CLIP-seq
MIRT1082345	hsa-miR-3147	CLIP-seq
MIRT1082346	hsa-miR-3616-3p	CLIP-seq
MIRT1082347	hsa-miR-3678-3p	CLIP-seq
MIRT1082348	hsa-miR-4253	CLIP-seq
MIRT1082349	hsa-miR-4260	CLIP-seq
MIRT1082350	hsa-miR-4290	CLIP-seq
MIRT1082351	hsa-miR-4425	CLIP-seq
MIRT1082352	hsa-miR-4761-3p	CLIP-seq
MIRT1082353	hsa-miR-4781-3p	CLIP-seq
MIRT1082354	hsa-miR-486-3p	CLIP-seq
MIRT1550418	hsa-miR-1289	CLIP-seq
MIRT1550419	hsa-miR-1297	CLIP-seq
MIRT1550420	hsa-miR-26a	CLIP-seq
MIRT1550421	hsa-miR-26b	CLIP-seq
MIRT1550422	hsa-miR-4465	CLIP-seq
MIRT1082344	hsa-miR-2467-3p	CLIP-seq
MIRT1082346	hsa-miR-3616-3p	CLIP-seq
MIRT2020504	hsa-miR-4317	CLIP-seq
MIRT2252229	hsa-miR-200b	CLIP-seq
MIRT2252230	hsa-miR-200c	CLIP-seq
MIRT2252231	hsa-miR-3616-5p	CLIP-seq
MIRT2252232	hsa-miR-3647-5p	CLIP-seq
MIRT2252233	hsa-miR-4269	CLIP-seq
MIRT2252234	hsa-miR-429	CLIP-seq
MIRT2252235	hsa-miR-4514	CLIP-seq
MIRT2252236	hsa-miR-4660	CLIP-seq
MIRT2252237	hsa-miR-4692	CLIP-seq
MIRT2252238	hsa-miR-4742-5p	CLIP-seq
MIRT2252239	hsa-miR-4764-5p	CLIP-seq
MIRT2252240	hsa-miR-4795-5p	CLIP-seq
MIRT2252241	hsa-miR-510	CLIP-seq
MIRT2252242	hsa-miR-573	CLIP-seq
MIRT1082344	hsa-miR-2467-3p	CLIP-seq
MIRT2389689	hsa-miR-3185	CLIP-seq
MIRT1082331	hsa-miR-342-5p	CLIP-seq
MIRT2252231	hsa-miR-3616-5p	CLIP-seq
MIRT2252232	hsa-miR-3647-5p	CLIP-seq
MIRT2389690	hsa-miR-4455	CLIP-seq
MIRT1082335	hsa-miR-4651	CLIP-seq
MIRT1082336	hsa-miR-4664-5p	CLIP-seq
MIRT2252240	hsa-miR-4795-5p	CLIP-seq
MIRT2252242	hsa-miR-573	CLIP-seq
MIRT1082341	hsa-miR-608	CLIP-seq
MIRT2452293	hsa-miR-122	CLIP-seq
MIRT2452294	hsa-miR-1343	CLIP-seq
MIRT2452295	hsa-miR-3690	CLIP-seq
MIRT2452296	hsa-miR-4254	CLIP-seq
MIRT2452297	hsa-miR-4255	CLIP-seq
MIRT2452298	hsa-miR-4326	CLIP-seq
MIRT2452299	hsa-miR-4450	CLIP-seq

Show/Hide all (25)

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	11245603, 34767770
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	TAS	10025409
GO:0005515	Function	Protein binding	IPI	19687231, 23431407
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:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	TAS	10025409
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	10025409
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0009925	Component	Basal plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603537	6298	ENSG00000117013

P56696

Protein name

Potassium voltage-gated channel subfamily KQT member 4 (KQT-like 4) (Potassium channel subunit alpha KvLQT4) (Voltage-gated potassium channel subunit Kv7.4)

Protein function

Pore-forming subunit of the voltage-gated potassium (Kv) channel involved in the regulation of sensory cells excitability in the cochlea (PubMed:10025409, PubMed:34767770). KCNQ4/Kv7.4 channel is composed of 4 pore-forming subunits assembled as

PDB

2OVC , 4GOW , 6N5W , 7BYL , 7BYM , 7BYN , 7VNP , 7VNQ , 7VNR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	98 → 330	Ion transport protein	Family
PF03520	KCNQ_channel	464 → 647	KCNQ voltage-gated potassium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the outer, but not the inner, sensory hair cells of the cochlea (PubMed:10025409). Slightly expressed in heart, brain and skeletal muscle (PubMed:10025409). {ECO:0000269|PubMed:10025409}.

Sequence

MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPG
PGSGSGSACGQRSSAAHKRYRRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLST
IQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRYRGWQGRFRFARKPFCVIDFI
VFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLA
AGFALLGISFFALPAGILGSGFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRA
YLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCHR
PGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRIL
KFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKG
DKGPSDAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLF
DPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD

Sequence length

695

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse		Voltage gated Potassium channels

145

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal dominant nonsyndromic hearing loss 2A	Likely pathogenic; Pathogenic	rs876657841, rs137853969, rs2148319465, rs2523882381, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs28937588, rs80358277, rs28939710 View all (12 more)	RCV001542519 RCV000056155 RCV002273060 RCV002470465 RCV000655876 RCV000655877 RCV000656422 RCV000655878 RCV000655879 RCV000655880 RCV000655881 RCV000655883 RCV000006619 RCV000006620 RCV000006621 RCV000006622 RCV000006623 RCV000006624 RCV000006625 RCV000006626 RCV000006627 RCV005636687 RCV003146794 RCV000709614 RCV000722178 RCV000767381 RCV000056138 RCV003446658 RCV001258340
Bilateral sensorineural hearing impairment	Likely pathogenic; Pathogenic	rs1064796365	RCV001730850
Hearing impairment	Likely pathogenic	rs2148324207	RCV001375171
KCNQ4-related disorder	Likely pathogenic	rs80358277	RCV003416787
Nonsyndromic genetic hearing loss	Pathogenic; Likely pathogenic	rs797044966, rs28937588, rs956666801	RCV001089683 RCV000211722 RCV000710319
Rare genetic deafness	Pathogenic; Likely pathogenic	rs727504635, rs28937588, rs80358277, rs28939710, rs1553168601	RCV000155896 RCV000844633 RCV000211784 RCV001195307 RCV000604071

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs74071723	RCV005918287
Autosomal dominant nonsyndromic hearing loss	Uncertain significance	rs2523886466	RCV005626724
Cervical cancer	Benign	rs146802754	RCV005898772
Cholangiocarcinoma	Benign	rs74071723	RCV005918290
Sarcoma	Benign	rs74071723, rs146802754	RCV005918288 RCV005898773
Thymoma	Benign	rs74071723	RCV005918289
Uterine corpus endometrial carcinoma	Benign	rs74071723	RCV005918291

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	18300702
Age Related Hearing Impairment 1	Associate	17513527
Aortic Aneurysm	Associate	34828318
Arrhythmias Cardiac	Associate	17329207
Atrioventricular Block	Associate	30221713
Branchio Oto Renal Syndrome	Associate	30221713
Branchiootic syndrome	Associate	30221713
Breast Neoplasms	Inhibit	37903775
Cardiomyopathy Dilated	Associate	30221713
Chromosome Aberrations	Associate	21242547
Deafness	Associate	17329207, 21242547, 30221713, 33846771, 34325055
Deafness Autosomal Dominant 2A	Associate	33846771
Diabetes Mellitus	Associate	34828318
Disease	Associate	25127363
Drug Related Side Effects and Adverse Reactions	Associate	34622280
Epilepsy	Associate	17329207
familial dilated cardiomyopathy	Associate	30221713
Hearing Loss	Associate	17568767, 22420747, 23717403, 23750663, 25116015, 30413759, 31028865, 33846771, 34622280, 34828318, 34946889, 37009795, 37017887, 9126484, 9193215
Hearing Loss High Frequency	Associate	30413759, 34828318
Hearing Loss Noise Induced	Associate	29301492
Hearing Loss Sensorineural	Associate	21242547, 22420747, 23431407, 23443030, 23717403, 23750663, 25116015, 33846771, 9126484, 9193215
Hyperkinesis	Associate	34316018
Irritable Bowel Syndrome	Associate	25127363
Lower Extremity Deformities Congenital	Associate	34828318
Neoplasms	Associate	37903775
Neoplastic Syndromes Hereditary	Associate	37017887
Nonsyndromic Deafness	Associate	23717403, 30413759, 31028865, 31389194, 34316018, 34828318
Nonsyndromic Holoprosencephaly	Associate	33846771
Nonsyndromic sensorineural hearing loss	Associate	22420747, 25116015, 31028865, 32382995, 33846771, 34622280, 37903775, 9193215
Polyneuropathies	Associate	34828318
Pulmonary Arterial Hypertension	Associate	34349187
Tinnitus	Associate	34828318
Vertigo	Associate	34828318

KCNQ4 (potassium voltage-gated channel subfamily Q member 4)