KCNC2
entrez
3747
canonical
uniprot
Q96PR1
canonical
ensembl
ENSG00000166006
resolver
ensp
ENSP00000298972
resolver
ensp
ENSP00000319877
resolver
ensp
ENSP00000376966
resolver
ensp
ENSP00000438423
resolver
ensp
ENSP00000448301
resolver
ensp
ENSP00000449253
resolver
ensp
ENSP00000449941
resolver
ensp
ENSP00000497415
resolver
ensp
ENSP00000558324
resolver
ensp
ENSP00000655872
resolver
ensp
ENSP00000679015
resolver
ensp
ENSP00000679016
resolver
ensp
ENSP00000679018
resolver
enst
ENST00000647764
resolver
genesymbol
KCNC2
resolver
hgnc
HGNC:6234
resolver
uniprot
A0A3B3ISR9
resolver
uniprot
B7Z231
resolver
uniprot
F5H030
resolver
uniprot
J3KPP5
resolver
uniprot
Q4LE77
resolver
uniprot
Q86W09
resolver
uniprot
Q8N1V9
resolver
uniprot
Q96PR0
resolver
uniprot_entry
A0A3B3ISR9_HUMAN
resolver
uniprot_entry
KCNC2_HUMAN
resolver
uniprot_sec
B7Z231
resolver
uniprot_sec
F5H030
resolver
uniprot_sec
J3KPP5
resolver
uniprot_sec
Q4LE77
resolver
uniprot_sec
Q86W09
resolver
uniprot_sec
Q8N1V9
resolver
uniprot_sec
Q96PR0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by Stichodactyla helianthus peptide ShK (PubMed:15709110). Inhibited by millimolar levels of tetraethylammonium (TEA). Contrary to other channels, inhibited only by millimolar levels of 4-aminopyridine (4-AP) (By similarity). {ECO:0000250|UniProtKB:P22462, ECO:0000269|PubMed:15709110, ECO:0000305|PubMed:10414303}.
uniprot
proteins
amino_acid_sequence
MGKIENNERVILNVGGTRHETYRSTLKTLPGTRLALLASSEPPGDCLTTAGDKLQPSPPPLSPPPRAPPLSPGPGGCFEGGAGNCSSRGGRASDHPGGGREFFFDRHPGVFAYVLNYYRTGKLHCPADVCGPLFEEELAFWGIDETDVEPCCWMTYRQHRDAEEALDIFETPDLIGGDPGDDEDLAAKRLGIEDAAGLGGPDGKSGRWRRLQPRMWALFEDPYSSRAARFIAFASLFFILVSITTFCLETHEAFNIVKNKTEPVINGTSVVLQYEIETDPALTYVEGVCVVWFTFEFLVRIVFSPNKLEFIKNLLNIIDFVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVRILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERVGAQPNDPSASEHTQFKNIPIGFWWAVVTMTTLGYGDMYPQTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPRKRKKHIPPAPQASSPTFCKTELNMACNSTQSDTCLGKDNRLLEHNRSVLSGDDSTGSEPPLSPPERLPIRRSSTRDKNRRGETCFLLTTGDYTCASDGGIRKGYEKSRSLNNIAGLAGNALRLSPVTSPYNSPCPLRRSRSPIPSIL
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving KCNC2 has been found in a mother and her two children with varying degrees of neurodevelopmental delay and cerebellar ataxia. One child also exhibits episodes of unresponsiveness suggestive of absence seizures and facial dysmorphism. Deletion at 12q21.1 deletes exons 3-5 of KCNC2. {ECO:0000269|PubMed:23475819}.; DISEASE: Developmental and epileptic encephalopathy 103 (DEE103) [MIM:619913]: A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE103 is an autosomal dominant form characterized by onset of various types of seizures in the first year of life. {ECO:0000269|PubMed:31972370, ECO:0000269|PubMed:32392612, ECO:0000269|PubMed:34448338, ECO:0000269|PubMed:35314505, ECO:0000269|PubMed:36090251}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (Probable) (PubMed:15709110, PubMed:35314505, PubMed:36090251). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed:15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity). {ECO:0000250|UniProtKB:P22462, ECO:0000250|UniProtKB:Q14B80, ECO:0000269|PubMed:15709110, ECO:0000269|PubMed:35314505, ECO:0000269|PubMed:36090251, ECO:0000305|PubMed:10414303, ECO:0000305|PubMed:11506885, ECO:0000305|PubMed:32392612}.
uniprot
proteins
mass_dalton
70226
uniprot
proteins
post_translational_modification
PTM: Phosphorylated by PKA in cortical synaptosomes. cAMP-dependent phosphorylation inhibits channel activity (By similarity). Histamine H2 receptor- and PKA-induced phosphorylation extends action potential spike duration, reduces action potential spike amplitude, sustains maximum firing frequency in hippocampal interneurons; also reduces the incidence of high-frequency oscillations in hippocampal CA3 pyramidal cell layers. {ECO:0000250|UniProtKB:P22462, ECO:0000250|UniProtKB:Q14B80}.
uniprot
proteins
protein_family
C (Shaw) (TC 1.A.1.2) subfamily
uniprot
proteins
protein_family
Kv3.2/KCNC2 sub-subfamily
uniprot
proteins
protein_family
Potassium channel family
uniprot
proteins
pubmed
10414303
uniprot
proteins
pubmed
11506885
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15709110
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
23475819
uniprot
proteins
pubmed
31972370
uniprot
proteins
pubmed
32392612
uniprot
proteins
pubmed
34448338
uniprot
proteins
pubmed
35314505
uniprot
proteins
pubmed
36090251
uniprot
proteins
pubmed
8111118
uniprot
proteins
sequence_length
638
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q14B80}; Multi-pass membrane protein {ECO:0000255}. Membrane {ECO:0000250|UniProtKB:Q14B80}; Multi-pass membrane protein {ECO:0000255}. Perikaryon {ECO:0000250|UniProtKB:Q14B80}. Cell projection, axon {ECO:0000250|UniProtKB:Q14B80}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q14B80}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:Q14B80}. Presynaptic cell membrane {ECO:0000250|UniProtKB:Q14B80}. Synapse, synaptosome {ECO:0000250|UniProtKB:P22462}. Synapse {ECO:0000250|UniProtKB:P22462}. Apical cell membrane {ECO:0000250|UniProtKB:P22462}. Basolateral cell membrane {ECO:0000250|UniProtKB:P22462}. Note=Colocalizes with parvalbumin in globus pallidus neurons. Localizes in thalamocortical axons and synapses. Localizes on the surface of cell somata, proximal dendrites and axonal membranes. Also detected throughout the neuropil. Localized in starburst cell somata and proximal dendrite processes. Colocalized with GABA in presynaptic terminals. Clustered in patches in somatic and proximal dendritic membrane as well as in axons and presnypatic terminals of GABAergic interneurons; some of these patches are found near postsynaptic sites. {ECO:0000250|UniProtKB:P22462, ECO:0000250|UniProtKB:Q14B80}.
uniprot
proteins
transmembrane_region
TRANSMEM 230..250; /note="Helical; Name=Segment S1"; /evidence="ECO:0000255"; TRANSMEM 284..303; /note="Helical; Name=Segment S2"; /evidence="ECO:0000255"; TRANSMEM 314..334; /note="Helical; Name=Segment S3"; /evidence="ECO:0000255"; TRANSMEM 346..368; /note="Helical; Voltage-sensor; Name=Segment S4"; /evidence="ECO:0000255"; TRANSMEM 382..402; /note="Helical; Name=Segment S5"; /evidence="ECO:0000255"; TRANSMEM 453..473; /note="Helical; Name=Segment S6"; /evidence="ECO:0000255
uniprot
proteins