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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3747
Gene name	Potassium voltage-gated channel subfamily C member 2
Gene symbol	KCNC2
Synonyms (NCBI Gene)	DEE103KV3.2
Chromosome	12
Chromosome location	12q21.1
Summary	The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encode

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments
MIRT1080551	hsa-miR-1323	CLIP-seq
MIRT1080552	hsa-miR-214	CLIP-seq
MIRT1080553	hsa-miR-296-5p	CLIP-seq
MIRT1080554	hsa-miR-299-3p	CLIP-seq
MIRT1080555	hsa-miR-3619-5p	CLIP-seq
MIRT1080556	hsa-miR-4265	CLIP-seq
MIRT1080557	hsa-miR-4274	CLIP-seq
MIRT1080558	hsa-miR-4291	CLIP-seq
MIRT1080559	hsa-miR-4296	CLIP-seq
MIRT1080560	hsa-miR-4322	CLIP-seq
MIRT1080561	hsa-miR-4417	CLIP-seq
MIRT1080562	hsa-miR-4641	CLIP-seq
MIRT1080563	hsa-miR-4714-3p	CLIP-seq
MIRT1080564	hsa-miR-499-3p	CLIP-seq
MIRT1080565	hsa-miR-499a-3p	CLIP-seq
MIRT1080566	hsa-miR-548o	CLIP-seq
MIRT1080567	hsa-miR-761	CLIP-seq
MIRT1080568	hsa-miR-922	CLIP-seq
MIRT1080552	hsa-miR-214	CLIP-seq
MIRT1080555	hsa-miR-3619-5p	CLIP-seq
MIRT1080567	hsa-miR-761	CLIP-seq
MIRT1080568	hsa-miR-922	CLIP-seq
MIRT2555104	hsa-miR-2052	CLIP-seq
MIRT2555105	hsa-miR-2113	CLIP-seq
MIRT2555106	hsa-miR-2355-5p	CLIP-seq
MIRT2555107	hsa-miR-4297	CLIP-seq
MIRT2555108	hsa-miR-4307	CLIP-seq
MIRT2555109	hsa-miR-4768-5p	CLIP-seq
MIRT2555110	hsa-miR-550a	CLIP-seq
MIRT2555104	hsa-miR-2052	CLIP-seq
MIRT2555105	hsa-miR-2113	CLIP-seq
MIRT2555106	hsa-miR-2355-5p	CLIP-seq
MIRT2555107	hsa-miR-4297	CLIP-seq
MIRT2555108	hsa-miR-4307	CLIP-seq
MIRT2555109	hsa-miR-4768-5p	CLIP-seq
MIRT2555110	hsa-miR-550a	CLIP-seq

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0001508	Process	Action potential	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	15709110, 32392612, 36090251
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	ISS
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:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	15709110, 32392612, 36090251
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0009636	Process	Response to toxic substance	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0014075	Process	Response to amine	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0021554	Process	Optic nerve development	IEA
GO:0021759	Process	Globus pallidus development	IEA
GO:0022836	Function	Gated channel activity	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030673	Component	Axolemma	IEA
GO:0031982	Component	Vesicle	IEA
GO:0032026	Process	Response to magnesium ion	IEA
GO:0032590	Component	Dendrite membrane	IBA
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:0038060	Process	Nitric oxide-cGMP-mediated signaling	IEA
GO:0038060	Process	Nitric oxide-cGMP-mediated signaling	ISS
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043195	Component	Terminal bouton	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IEA
GO:0043679	Component	Axon terminus	IBA
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0051260	Process	Protein homooligomerization	ISS
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051291	Process	Protein heterooligomerization	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060081	Process	Membrane hyperpolarization	ISS
GO:0071242	Process	Cellular response to ammonium ion	IEA
GO:0071732	Process	Cellular response to nitric oxide	IEA
GO:0071732	Process	Cellular response to nitric oxide	ISS
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:0097237	Process	Cellular response to toxic substance	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
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:0099605	Process	Regulation of action potential firing rate	IEA
GO:0099605	Process	Regulation of action potential firing rate	ISS
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IEA
GO:1904373	Process	Response to kainic acid	IEA
GO:1990089	Process	Response to nerve growth factor	IEA

MIM	HGNC	e!Ensembl
176256	6234	ENSG00000166006

Q96PR1

Protein name

Voltage-gated potassium channel KCNC2 (Potassium voltage-gated channel subfamily C member 2) (Shaw-like potassium channel) (Voltage-gated potassium channel Kv3.2)

Protein function

Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in n

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	10 → 151	BTB/POZ domain	Domain
PF00520	Ion_trans	228 → 484	Ion transport protein	Family

Sequence

MGKIENNERVILNVGGTRHETYRSTLKTLPGTRLALLASSEPPGDCLTTAGDKLQPSPPP
LSPPPRAPPLSPGPGGCFEGGAGNCSSRGGRASDHPGGGREFFFDRHPGVFAYVLNYYRT
GKLHCPADVCGPLFEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDIFETPDLIGGDPG
DDEDLAAKRLGIEDAAGLGGPDGKSGRWRRLQPRMWALFEDPYSSRAARFIAFASLFFIL
VSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFTFEFLVR
IVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFK
LTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQ
FKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYY
SLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVL
SGDDSTGSEPPLSPPERLPIRRSSTRDKNRRGETCFLLTTGDYTCASDGGIRKGYEKSRS
LNNIAGLAGNALRLSPVTSPYNSPCPLRRSRSPIPSIL

Sequence length

638

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Likely pathogenic	rs2136944093	RCV002266114	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 103	Pathogenic; Likely pathogenic	rs2136944684, rs2136943353, rs2137827783, rs61735712, rs2137828445, rs2136943757, rs2547844200, rs2548168192, rs1260222970	RCV002269377 RCV002260879 RCV002260880 RCV002260881 RCV002260882 RCV002260884 RCV003110132 RCV003983783 RCV004545913	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs1881066035	RCV002274413	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KCNC2-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Autistic Disorder	Associate	35366058	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Associate	35314505	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	35314505, 35366058	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Absence	Associate	35314505	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Generalized	Associate	35314505	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Associate	35314505	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Associate	30314295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Ataxia Type 2	Associate	30314295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	18474104	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Associate	30314295	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNC2 (potassium voltage-gated channel subfamily C member 2)