KCNC2
Voltage-gated potassium channel KCNC2
Also known as: KCNC2_HUMAN, Kv3.2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96PR1
- Gene
- KCNC2
- Ensembl
- ENSG00000166006
- Chromosome
- 12
- Canonical length
- 638 aa
- Protein class
- Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Voltage-gated ion channels
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
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 encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Canonical amino-acid sequenceUniProt
638 residues, UniProt reviewed canonical sequence.
>Q96PR1|KCNC2
1 MGKIENNERV ILNVGGTRHE TYRSTLKTLP GTRLALLASS EPPGDCLTTA GDKLQPSPPP
61 LSPPPRAPPL SPGPGGCFEG GAGNCSSRGG RASDHPGGGR EFFFDRHPGV FAYVLNYYRT
121 GKLHCPADVC GPLFEEELAF WGIDETDVEP CCWMTYRQHR DAEEALDIFE TPDLIGGDPG
181 DDEDLAAKRL GIEDAAGLGG PDGKSGRWRR LQPRMWALFE DPYSSRAARF IAFASLFFIL
241 VSITTFCLET HEAFNIVKNK TEPVINGTSV VLQYEIETDP ALTYVEGVCV VWFTFEFLVR
301 IVFSPNKLEF IKNLLNIIDF VAILPFYLEV GLSGLSSKAA KDVLGFLRVV RFVRILRIFK
361 LTRHFVGLRV LGHTLRASTN EFLLLIIFLA LGVLIFATMI YYAERVGAQP NDPSASEHTQ
421 FKNIPIGFWW AVVTMTTLGY GDMYPQTWSG MLVGALCALA GVLTIAMPVP VIVNNFGMYY
481 SLAMAKQKLP RKRKKHIPPA PQASSPTFCK TELNMACNST QSDTCLGKDN RLLEHNRSVL
541 SGDDSTGSEP PLSPPERLPI RRSSTRDKNR RGETCFLLTT GDYTCASDGG IRKGYEKSRS
601 LNNIAGLAGN ALRLSPVTSP YNSPCPLRRS RSPIPSILLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCNC2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.46
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 34 nTPM
- hypothalamus: 12 nTPM
- amygdala: 11 nTPM
- hippocampal formation: 10 nTPM
- retina: 8.3 nTPM
- pituitary gland: 6.3 nTPM
Single-cell type
- retinal ganglion cells: 1,159 nCPM
- thyrotrophs: 522 nCPM
- retinal amacrine cells: 519 nCPM
- other brain neurons: 465 nCPM
- lactotrophs: 449 nCPM
- brain inhibitory neurons: 448 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 157 nTPM
- thalamus: 149 nTPM
- pons: 103 nTPM
- hypothalamus: 75 nTPM
- white matter: 72 nTPM
- midbrain: 70 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCNC2.
Disease | AllUniProt
Conditions KCNC2 is implicated in, by any mechanism.
- Developmental and epileptic encephalopathy 103 (DEE103) MIM:619913
Disease | GeneticClinVar
17 pathogenic / likely-pathogenic of 158 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Developmental and epileptic encephalopathy 103
- Developmental and epileptic encephalopathy
- Neurodevelopmental delay
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.53
- gnomAD pLI
- 0.19
- gnomAD missense Z
- 2.98
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- action potential
- cellular response to ammonium ion
- cellular response to nitric oxide
- cellular response to toxic substance
- globus pallidus development
- membrane hyperpolarization
- nitric oxide-cGMP-mediated signaling
- optic nerve development
- positive regulation of potassium ion transmembrane transport
- potassium ion transmembrane transport
- potassium ion transport
- protein heterooligomerization
- protein homooligomerization
- regulation of action potential firing rate
- response to amine
- response to ethanol
- response to kainic acid
- response to light intensity
- response to magnesium ion
- response to nerve growth factor
Molecular functions
- delayed rectifier potassium channel activity
- metal ion binding
- transmembrane transporter binding
- voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential
- voltage-gated potassium channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BTB/POZ domain
- Potassium channel tetramerisation-type BTB domain
- Potassium channel, voltage dependent, Kv
- Potassium channel, voltage dependent, Kv3
- Ion transport domain
- SKP1/BTB/POZ domain superfamily
- Voltage-dependent channel domain superfamily
- Voltage-gated potassium channel
- Ion transport protein
- BTB/POZ domain
KeywordsUniProt
- Cell membrane
- Cell projection
- Chromosomal rearrangement
- Epilepsy
- Glycoprotein
- Intellectual disability
- Ion channel
- Ion transport
- Membrane
- Metal-binding
- Phosphoprotein
- Postsynaptic cell membrane
- Potassium
- Potassium channel
- Potassium transport
- Synapse
- Synaptosome
- Transmembrane
- Transmembrane helix
- Transport
- Voltage-gated channel
- Zinc
InteractionsUniProt · HPA
Protein binding partners of KCNC2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KCNC2 as an antibody target. Whether an autoantibody or antibody against KCNC2 could matter depends on whether native KCNC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCNC2 is annotated at the cell surface, where native KCNC2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label KCNC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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