Human Gene KCNA2 (uc009wfw.3)
  Description: Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.
RefSeq Summary (NM_004974): Potassium 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, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:111,145,776-111,148,975 Size: 3,200 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:111,145,905-111,147,404 Size: 1,500 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:111,145,776-111,148,975)mRNA (may differ from genome)Protein (499 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDHuman Cortex Gene ExpressionLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNA2_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily A member 2; AltName: Full=NGK1; AltName: Full=Voltage-gated K(+) channel HuKIV; AltName: Full=Voltage-gated potassium channel HBK5; AltName: Full=Voltage-gated potassium channel subunit Kv1.2;
FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient.
SUBUNIT: Heterotetramer of potassium channel proteins. Binds PDZ domains of DLG1, DLG2 and DLG4 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
PTM: Phosphorylated on tyrosine residues by activated PTK2B/PYK2; this regulates ion channel activity (By similarity).
SIMILARITY: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.2/KCNA2 sub-subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNA2
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 32* (1330), undetermined early-onset epileptic encephalopathy* (111), episodic ataxia (9), episodic ataxia/myokymia syndrome (8), benign neonatal seizures (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.02 RPKM in Brain - Cerebellum
Total median expression: 66.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -253.50621-0.408 Picture PostScript Text
3' UTR -30.90129-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003968 - K_chnl_volt-dep_Kv
IPR003972 - K_chnl_volt-dep_Kv1
IPR004049 - K_chnl_volt-dep_Kv1.2
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain
PF07885 - Ion channel

SCOP Domains:
54695 - POZ domain
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on P16389
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005515 protein binding
GO:0015271 outward rectifier potassium channel activity
GO:0019894 kinesin binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0014059 regulation of dopamine secretion
GO:0019228 neuronal action potential
GO:0019233 sensory perception of pain
GO:0021633 optic nerve structural organization
GO:0034765 regulation of ion transmembrane transport
GO:0045188 regulation of circadian sleep/wake cycle, non-REM sleep
GO:0051259 protein oligomerization
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
GO:0030054 cell junction
GO:0030424 axon
GO:0030425 dendrite
GO:0031258 lamellipodium membrane
GO:0032809 neuronal cell body membrane
GO:0033010 paranodal junction
GO:0034705 potassium channel complex
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043204 perikaryon
GO:0043679 axon terminus
GO:0044224 juxtaparanode region of axon
GO:0045202 synapse


-  Descriptions from all associated GenBank mRNAs
  BC043564 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2, mRNA (cDNA clone MGC:50217 IMAGE:5212949), complete cds.
KJ901536 - Synthetic construct Homo sapiens clone ccsbBroadEn_10930 KCNA2 gene, encodes complete protein.
CU692176 - Synthetic construct Homo sapiens gateway clone IMAGE:100021364 5' read KCNA2 mRNA.
AK290061 - Homo sapiens cDNA FLJ77031 complete cds, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), mRNA.
L02752 - Human potassium channel mRNA, complete cds.
AB464665 - Synthetic construct DNA, clone: pF1KB9873, Homo sapiens KCNA2 gene for potassium voltage-gated channel, shaker-related subfamily, member 2, without stop codon, in Flexi system.
JD349130 - Sequence 330154 from Patent EP1572962.
JD345486 - Sequence 326510 from Patent EP1572962.
JD197971 - Sequence 178995 from Patent EP1572962.
JD337471 - Sequence 318495 from Patent EP1572962.
JD521032 - Sequence 502056 from Patent EP1572962.
JD202448 - Sequence 183472 from Patent EP1572962.
JD421316 - Sequence 402340 from Patent EP1572962.
JD208316 - Sequence 189340 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_bArrestin-srcPathway - Roles of ¿-arrestin-dependent Recruitment of Src Kinases in GPCR Signaling
h_bArrestinPathway - ¿-arrestins in GPCR Desensitization
h_barr-mapkPathway - Role of ¿-arrestins in the activation and targeting of MAP kinases

Reactome (by CSHL, EBI, and GO)

Protein P16389 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: KCNA2_HUMAN, NM_004974, NP_004965, P16389, Q86XG6
UCSC ID: uc009wfw.3
RefSeq Accession: NM_004974
Protein: P16389 (aka KCNA2_HUMAN or CIK2_HUMAN)
CCDS: CCDS827.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004974.3
exon count: 3CDS single in 3' UTR: no RNA size: 2267
ORF size: 1500CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2975.50frame shift in genome: no % Coverage: 99.25
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 735# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.