KCND2
A-type voltage-gated potassium channel KCND2
Also known as: KCND2_HUMAN, KIAA1044, Kv4.2, RK5
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NZV8
- Gene
- KCND2
- Ensembl
- ENSG00000184408
- Chromosome
- 7
- Canonical length
- 630 aa
- Protein class
- Disease related genes, FDA approved drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
630 residues, UniProt reviewed canonical sequence.
>Q9NZV8|KCND2
1 MAAGVAAWLP FARAAAIGWM PVASGPMPAP PRQERKRTQD ALIVLNVSGT RFQTWQDTLE
61 RYPDTLLGSS ERDFFYHPET QQYFFDRDPD IFRHILNFYR TGKLHYPRHE CISAYDEELA
121 FFGLIPEIIG DCCYEEYKDR RRENAERLQD DADTDTAGES ALPTMTARQR VWRAFENPHT
181 STMALVFYYV TGFFIAVSVI ANVVETVPCG SSPGHIKELP CGERYAVAFF CLDTACVMIF
241 TVEYLLRLAA APSRYRFVRS VMSIIDVVAI LPYYIGLVMT DNEDVSGAFV TLRVFRVFRI
301 FKFSRHSQGL RILGYTLKSC ASELGFLLFS LTMAIIIFAT VMFYAEKGSS ASKFTSIPAA
361 FWYTIVTMTT LGYGDMVPKT IAGKIFGSIC SLSGVLVIAL PVPVIVSNFS RIYHQNQRAD
421 KRRAQKKARL ARIRAAKSGS ANAYMQSKRN GLLSNQLQSS EDEQAFVSKS GSSFETQHHH
481 LLHCLEKTTN HEFVDEQVFE ESCMEVATVN RPSSHSPSLS SQQGVTSTCC SRRHKKTFRI
541 PNANVSGSHQ GSIQELSTIQ IRCVERTPLS NSRSSLNAKM EECVKLNCEQ PYVTTAIISI
601 PTPPVTTPEG DDRPESPEYS GGNIVRVSALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KCND2 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
- 32 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 32 nTPM
- cerebral cortex: 11 nTPM
- basal ganglia: 5.9 nTPM
- hypothalamus: 5.5 nTPM
- midbrain: 4.1 nTPM
- gallbladder: 4 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 2,969 nCPM
- lactotrophs: 2,549 nCPM
- brain excitatory neurons: 2,156 nCPM
- bergmann glia: 1,842 nCPM
- brain inhibitory neurons: 1,746 nCPM
- corticotrophs: 1,617 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
- cerebellum: 115 nTPM
- pons: 77 nTPM
- thalamus: 57 nTPM
- midbrain: 49 nTPM
- medulla oblongata: 44 nTPM
- basal ganglia: 38 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KCND2.
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 483 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Early Myoclonic Encephalopathy
- Inborn genetic diseases
- KCND2-related neurodevelopmental disorder
- Neurodevelopmental disorder
- KCND2-related neurodevelopmental disorder with or without seizures
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)
- 0.57
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 3.51
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 hypoxia
- chemical synaptic transmission
- locomotor rhythm
- membrane repolarization
- muscle contraction
- neuronal action potential
- potassium ion transmembrane transport
- protein homooligomerization
- regulation of heart contraction
- sensory perception of pain
Molecular functions
- A-type (transient outward) potassium channel activity
- metal ion binding
- voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic 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, Kv4
- Ion transport domain
- SKP1/BTB/POZ domain superfamily
- Shal-type voltage-gated potassium channels, N-terminal
- Potassium channel, voltage dependent, Kv4, C-terminal
- Voltage-dependent channel domain superfamily
- Voltage-gated potassium channel
- Ion transport protein
- BTB/POZ domain
- Shal-type voltage-gated potassium channels, N-terminal
- Domain of unknown function (DUF3399)
- Potassium channel, voltage dependent, Kv4.2
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KCND2 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 KCND2 as an antibody target. Whether an autoantibody or antibody against KCND2 could matter depends on whether native KCND2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KCND2 is annotated at the cell surface, where native KCND2 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 KCND2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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