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	3746
Gene name	Potassium voltage-gated channel subfamily C member 1
Gene symbol	KCNC1
Synonyms (NCBI Gene)	EPM7KV3.1KV4NGK2
Chromosome	11
Chromosome location	11p15.1
Summary	This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ a

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs727502818	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057524670	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1064795663	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1085307785	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554991378	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs1565162623	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1590088831	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1590106815	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

118

Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016942	hsa-miR-335-5p	Microarray	18185580
MIRT049632	hsa-miR-92a-3p	CLASH	23622248
MIRT438834	hsa-miR-582-5p	qRT-PCR	23295946
MIRT438820	hsa-miR-582-3p	qRT-PCR	23295946
MIRT438834	hsa-miR-582-5p	qRT-PCR	23295946
MIRT438820	hsa-miR-582-3p	qRT-PCR	23295946
MIRT1080450	hsa-let-7a	CLIP-seq
MIRT1080451	hsa-let-7b	CLIP-seq
MIRT1080452	hsa-let-7c	CLIP-seq
MIRT1080453	hsa-let-7d	CLIP-seq
MIRT1080454	hsa-let-7e	CLIP-seq
MIRT1080455	hsa-let-7f	CLIP-seq
MIRT1080456	hsa-let-7g	CLIP-seq
MIRT1080457	hsa-let-7i	CLIP-seq
MIRT1080458	hsa-miR-1207-3p	CLIP-seq
MIRT1080459	hsa-miR-1224-3p	CLIP-seq
MIRT1080460	hsa-miR-1254	CLIP-seq
MIRT1080461	hsa-miR-1257	CLIP-seq
MIRT1080462	hsa-miR-1260	CLIP-seq
MIRT1080463	hsa-miR-1260b	CLIP-seq
MIRT1080464	hsa-miR-1280	CLIP-seq
MIRT1080465	hsa-miR-1285	CLIP-seq
MIRT1080466	hsa-miR-1293	CLIP-seq
MIRT1080467	hsa-miR-1294	CLIP-seq
MIRT1080468	hsa-miR-136	CLIP-seq
MIRT1080469	hsa-miR-138	CLIP-seq
MIRT1080470	hsa-miR-1827	CLIP-seq
MIRT1080471	hsa-miR-185	CLIP-seq
MIRT1080472	hsa-miR-188-3p	CLIP-seq
MIRT1080473	hsa-miR-1913	CLIP-seq
MIRT1080474	hsa-miR-28-5p	CLIP-seq
MIRT1080475	hsa-miR-2861	CLIP-seq
MIRT1080476	hsa-miR-296-5p	CLIP-seq
MIRT1080477	hsa-miR-3065-3p	CLIP-seq
MIRT1080478	hsa-miR-3116	CLIP-seq
MIRT1080479	hsa-miR-3119	CLIP-seq
MIRT1080480	hsa-miR-3132	CLIP-seq
MIRT1080481	hsa-miR-3139	CLIP-seq
MIRT1080482	hsa-miR-3156-3p	CLIP-seq
MIRT1080483	hsa-miR-3187-5p	CLIP-seq
MIRT1080484	hsa-miR-324-3p	CLIP-seq
MIRT1080485	hsa-miR-326	CLIP-seq
MIRT1080486	hsa-miR-330-3p	CLIP-seq
MIRT1080487	hsa-miR-330-5p	CLIP-seq
MIRT1080488	hsa-miR-342-5p	CLIP-seq
MIRT1080489	hsa-miR-3529	CLIP-seq
MIRT1080490	hsa-miR-3612	CLIP-seq
MIRT1080491	hsa-miR-3616-3p	CLIP-seq
MIRT1080492	hsa-miR-3663-5p	CLIP-seq
MIRT1080493	hsa-miR-3689a-3p	CLIP-seq
MIRT1080494	hsa-miR-3689c	CLIP-seq
MIRT1080495	hsa-miR-378g	CLIP-seq
MIRT1080496	hsa-miR-379	CLIP-seq
MIRT1080497	hsa-miR-3919	CLIP-seq
MIRT1080498	hsa-miR-3927	CLIP-seq
MIRT1080499	hsa-miR-4254	CLIP-seq
MIRT1080500	hsa-miR-4306	CLIP-seq
MIRT1080501	hsa-miR-4311	CLIP-seq
MIRT1080502	hsa-miR-4316	CLIP-seq
MIRT1080503	hsa-miR-4422	CLIP-seq
MIRT1080504	hsa-miR-4426	CLIP-seq
MIRT1080505	hsa-miR-4451	CLIP-seq
MIRT1080506	hsa-miR-4458	CLIP-seq
MIRT1080507	hsa-miR-4459	CLIP-seq
MIRT1080508	hsa-miR-4470	CLIP-seq
MIRT1080509	hsa-miR-4483	CLIP-seq
MIRT1080510	hsa-miR-4486	CLIP-seq
MIRT1080511	hsa-miR-4500	CLIP-seq
MIRT1080512	hsa-miR-450b-3p	CLIP-seq
MIRT1080513	hsa-miR-4511	CLIP-seq
MIRT1080514	hsa-miR-4527	CLIP-seq
MIRT1080515	hsa-miR-4644	CLIP-seq
MIRT1080516	hsa-miR-4647	CLIP-seq
MIRT1080517	hsa-miR-4651	CLIP-seq
MIRT1080518	hsa-miR-4662b	CLIP-seq
MIRT1080519	hsa-miR-4664-5p	CLIP-seq
MIRT1080520	hsa-miR-4667-5p	CLIP-seq
MIRT1080521	hsa-miR-4680-5p	CLIP-seq
MIRT1080522	hsa-miR-4687-3p	CLIP-seq
MIRT1080523	hsa-miR-4700-5p	CLIP-seq
MIRT1080524	hsa-miR-4713-3p	CLIP-seq
MIRT1080525	hsa-miR-4721	CLIP-seq
MIRT1080526	hsa-miR-4722-5p	CLIP-seq
MIRT1080527	hsa-miR-4723-5p	CLIP-seq
MIRT1080528	hsa-miR-4727-5p	CLIP-seq
MIRT1080529	hsa-miR-4728-5p	CLIP-seq
MIRT1080530	hsa-miR-4747-5p	CLIP-seq
MIRT1080531	hsa-miR-4756-3p	CLIP-seq
MIRT1080532	hsa-miR-4763-5p	CLIP-seq
MIRT1080533	hsa-miR-4779	CLIP-seq
MIRT1080534	hsa-miR-4790-3p	CLIP-seq
MIRT1080535	hsa-miR-485-5p	CLIP-seq
MIRT1080536	hsa-miR-520a-5p	CLIP-seq
MIRT1080537	hsa-miR-525-5p	CLIP-seq
MIRT1080538	hsa-miR-541	CLIP-seq
MIRT1080539	hsa-miR-544	CLIP-seq
MIRT1080540	hsa-miR-608	CLIP-seq
MIRT1080541	hsa-miR-612	CLIP-seq
MIRT1080542	hsa-miR-618	CLIP-seq
MIRT1080543	hsa-miR-637	CLIP-seq
MIRT1080544	hsa-miR-650	CLIP-seq
MIRT1080545	hsa-miR-654-5p	CLIP-seq
MIRT1080546	hsa-miR-661	CLIP-seq
MIRT1080547	hsa-miR-708	CLIP-seq
MIRT1080548	hsa-miR-769-3p	CLIP-seq
MIRT1080549	hsa-miR-940	CLIP-seq
MIRT1080550	hsa-miR-98	CLIP-seq
MIRT2251866	hsa-miR-3202	CLIP-seq
MIRT2251867	hsa-miR-4438	CLIP-seq
MIRT2251868	hsa-miR-510	CLIP-seq
MIRT1080543	hsa-miR-637	CLIP-seq
MIRT2389619	hsa-miR-2276	CLIP-seq
MIRT2389620	hsa-miR-3977	CLIP-seq
MIRT2389621	hsa-miR-4772-3p	CLIP-seq
MIRT2389622	hsa-miR-593	CLIP-seq
MIRT2555101	hsa-miR-3153	CLIP-seq
MIRT2555102	hsa-miR-4425	CLIP-seq
MIRT2555103	hsa-miR-4668-5p	CLIP-seq

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	25401298
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	TAS	8449507
GO:0005251	Function	Delayed rectifier potassium channel activity	IBA
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	ISS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
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	TAS	8449507
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	23734863
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	1400413
GO:0009636	Process	Response to toxic substance	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0014075	Process	Response to amine	IEA
GO:0016020	Component	Membrane	IEA
GO:0019894	Function	Kinesin binding	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021554	Process	Optic nerve development	IEA
GO:0021759	Process	Globus pallidus development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0022836	Function	Gated channel activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030673	Component	Axolemma	IEA
GO:0032589	Component	Neuron projection membrane	IEA
GO:0032590	Component	Dendrite membrane	IBA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IBA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IEA
GO:0034767	Process	Positive regulation of monoatomic ion transmembrane transport	IEA
GO:0035864	Process	Response to potassium ion	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043679	Component	Axon terminus	IBA
GO:0044305	Component	Calyx of Held	IEA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051262	Process	Protein tetramerization	IDA	23734863
GO:0055085	Process	Transmembrane transport	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071774	Process	Response to fibroblast growth factor	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	ISS
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
GO:1901379	Process	Regulation of potassium ion transmembrane transport	IEA
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IEA
GO:1990089	Process	Response to nerve growth factor	IEA

MIM	HGNC	e!Ensembl
176258	6233	ENSG00000129159

P48547

Protein name

Voltage-gated potassium channel KCNC1 (NGK2) (Potassium voltage-gated channel subfamily C member 1) (Voltage-gated potassium channel subunit Kv3.1) (Voltage-gated potassium channel subunit Kv4)

Protein function

Voltage-gated potassium channel that opens in response to the voltage difference across the membrane and through which potassium ions pass in accordance with their electrochemical gradient (PubMed:25401298, PubMed:35840580). The mechanism is tim

PDB

7PHH , 7PHI , 7PHK , 7PHL , 7PQT , 7PQU , 8F1C , 8F1D , 8QUC , 8QUD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	10 → 104	BTB/POZ domain	Domain
PF00520	Ion_trans	189 → 447	Ion transport protein	Family

Sequence

MGQGDESERIVINVGGTRHQTYRSTLRTLPGTRLAWLAEPDAHSHFDYDPRADEFFFDRH
PGVFAHILNYYRTGKLHCPADVCGPLYEEELAFWGIDETDVEPCCWMTYRQHRDAEEALD
SFGGAPLDNSADDADADGPGDSGDGEDELEMTKRLALSDSPDGRPGGFWRRWQPRIWALF
EDPYSSRYARYVAFASLFFILVSITTFCLETHERFNPIVNKTEIENVRNGTQVRYYREAE
TEAFLTYIEGVCVVWFTFEFLMRVIFCPNKVEFIKNSLNIIDFVAILPFYLEVGLSGLSS
KAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFA
TMIYYAERIGAQPNDPSASEHTHFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALC
ALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKKKHIPRPPQLGSPNYCKSVVNSPH
HSTQSDTCPLAQEEILEINRAGRKPLRGMSI

Sequence length

511

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Progressive myoclonic epilepsy type 7	Likely pathogenic; Pathogenic	rs756544748, rs2133805364, rs727502818, rs2497800432, rs2497800929, rs1085307785, rs1554991378, rs1565162623, rs1590088831, rs1590106815, rs1057524670, rs1485166517	RCV001775367 RCV001932465 RCV000149909 RCV003320015 RCV003752393 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2133805364	RCV005624495	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal cerebral morphology	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 7	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNC1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONUS EPILEPSY	—	ClinGen, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37715200	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	28145425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	29176790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	28145425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31353855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	28145425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28145425, 31353862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28145425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPSY, PROGRESSIVE MYOCLONIC 7	Myoclonic Epilepsy	UNIPROT_DG	25401298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 7	Myoclonic Epilepsy	CLINVAR_DG	25401298, 27629860, 28380698		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 7	Myoclonic Epilepsy	ORPHANET_DG	25401298		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PROGRESSIVE MYOCLONIC 7	Myoclonic Epilepsy	GENOMICS_ENGLAND_DG	25401298, 28145425		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31353855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31353862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28145425, 31353862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28145425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	30588629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	25401298, 28145425, 31353855, 31353862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	27629860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive myoclonic epilepsy type 7	Progressive Myoclonic Epilepsy	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures	Seizures	Pubtator	28145425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	34105734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	BEFREE	29428275, 31353862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNC1 (potassium voltage-gated channel subfamily C member 1)