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

422

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
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 RCV001851315 RCV000578307 RCV000688406 RCV000815376 RCV000853393 RCV001004755 RCV001208247
Seizure	Likely pathogenic; Pathogenic	rs2133805364	RCV005624495

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal cerebral morphology	Uncertain significance	rs1554991425	RCV002275114
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs368573465	RCV005912543
KCNC1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs148132957, rs569972571, rs139606715, rs2133805555, rs577711585, rs2497801685, rs1295549018, rs1321370547, rs1057524670, rs73424033, rs137989254, rs2229007, rs1169785679, rs114815696, rs1442404828	RCV003930926 RCV004743520 RCV003921259 RCV004743591 RCV003923492 RCV003397303 RCV003939076 RCV003961730 RCV003401436 RCV003905458 RCV003905457 RCV003983125 RCV004742580 RCV003960706 RCV004743388
See cases	Uncertain significance	rs2497818743	RCV003128543

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	37715200
Ataxia	Associate	28145425
Congenital Abnormalities	Associate	28145425
Epilepsies Myoclonic	Associate	28145425
Epilepsy	Associate	28145425
Hearing Loss Functional	Associate	28145425
Intellectual Disability	Associate	28145425
Long QT Syndrome	Associate	30588629
Myoclonic Epilepsies Progressive	Associate	28145425
Myoclonus	Associate	28145425
Seizures	Associate	28145425
Seminoma	Associate	34105734

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