Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNA2 Gene

Aliases for KCNA2 Gene

  • Potassium Voltage-Gated Channel Subfamily A Member 2 2 3
  • Potassium Channel, Voltage Gated Shaker Related Subfamily A, Member 2 3 5
  • Potassium Voltage-Gated Channel, Shaker-Related Subfamily, Member 2 2 3
  • Voltage-Gated Potassium Channel Subunit Kv1.2 3 4
  • Voltage-Gated Potassium Channel HBK5 3 4
  • Voltage-Gated K(+) Channel HuKIV 3 4
  • NGK1 3 4
  • Voltage-Gated Potassium Channel Protein Kv1.2 3
  • EC 3.6.1.27 63
  • EC 6.1.1 63
  • EIEE32 3
  • HUKIV 3
  • KV1.2 3
  • HBK5 3
  • RBK2 3
  • HK4 3
  • MK2 3

External Ids for KCNA2 Gene

Previous GeneCards Identifiers for KCNA2 Gene

  • GC01M111562
  • GC01M110012
  • GC01M110238
  • GC01M110434
  • GC01M110848
  • GC01M110947
  • GC01M111137
  • GC01M109017

Summaries for KCNA2 Gene

Entrez Gene Summary for KCNA2 Gene

  • 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]

GeneCards Summary for KCNA2 Gene

KCNA2 (Potassium Voltage-Gated Channel Subfamily A Member 2) is a Protein Coding gene. Diseases associated with KCNA2 include Epileptic Encephalopathy, Early Infantile, 32 and Lymphogranuloma Venereum. Among its related pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCNA2 Gene

  • Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium-selective 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 (PubMed:19912772, PubMed:8495559, PubMed:11211111, PubMed:23769686). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559, PubMed:20220134). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA2 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:23769686). In contrast, a heteromultimer formed by KCNA2 and KCNA4 shows rapid inactivation (PubMed:8495559). Regulates neuronal excitability and plays a role as pacemaker in the regulation of neuronal action potentials (By similarity). KCNA2-containing channels play a presynaptic role and prevent hyperexcitability and aberrant action potential firing (By similarity). Response to toxins that are selective for KCNA2-containing potassium channels suggests that in Purkinje cells, dendritic subthreshold KCNA2-containing potassium channels prevent random spontaneous calcium spikes, suppressing dendritic hyperexcitability without hindering the generation of somatic action potentials, and thereby play an important role in motor coordination (By similarity). Plays a role in the induction of long-term potentiation of neuron excitability in the CA3 layer of the hippocampus (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) (By similarity). Contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Reduced KCNA2 expression plays a role in the perception of neuropathic pain after peripheral nerve injury, but not acute pain (By similarity). Plays a role in the regulation of the time spent in non-rapid eye movement (NREM) sleep (By similarity).

Tocris Summary for KCNA2 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNA2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNA2 Gene

Genomics for KCNA2 Gene

Regulatory Elements for KCNA2 Gene

Enhancers for KCNA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KCNA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNA2 Gene

Chromosome:
1
Start:
110,593,580 bp from pter
End:
110,631,514 bp from pter
Size:
37,935 bases
Orientation:
Minus strand

Genomic View for KCNA2 Gene

Genes around KCNA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNA2 Gene

Proteins for KCNA2 Gene

  • Protein details for KCNA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16389-KCNA2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily A member 2
    Protein Accession:
    P16389
    Secondary Accessions:
    • A0A024R0D3
    • A8K1Z6
    • Q86XG6

    Protein attributes for KCNA2 Gene

    Size:
    499 amino acids
    Molecular mass:
    56717 Da
    Quaternary structure:
    • Homotetramer and heterotetramer with other channel-forming alpha subunits, such as KCNA1, KCNA4, KCNA5, KCNA6 and KCNA7. Channel activity is regulated by interaction with the beta subunits, including KCNAB1 and KCNAB2. Identified in a complex with KCNA1 and KCNAB2 (PubMed:11086297). Identified in a complex with KCNA5 and KCNAB1 (By similarity). Identified in a complex with KCNA4 and FYN (By similarity). Interacts with the beta subunit KCNAB1 (PubMed:19713757). Interacts with PTK2B (By similarity). Interacts (via C-terminus) with CTTN (By similarity). Interacts (via N-terminal cytoplasmic domain) with RHOA (GTP-bound form); this regulates channel activity by reducing location at the cell surface in response to CHRM1 activation (By similarity). Interacts with DRD2 (By similarity). Interacts with SIGMAR1; cocaine consumption leads to increased interaction (By similarity). Interacts with ADAM22 (By similarity). Interacts (via C-terminus) with the PDZ domains of DLG1, DLG2 and DLG4 (By similarity). Interacts with CNTNAP2 (PubMed:10624965).
    Miscellaneous:
    • The delay or D-type current observed in hippocampus pyramidal neurons is probably mediated by potassium channels containing KCNA2 plus KCNA1 or other family members. It is activated at about -50 mV, i.e. below the action potential threshold, and is characterized by slow inactivation, extremely slow recovery from inactivation, sensitivity to dendrotoxin (DTX) and to 4-aminopyridine (4-AP).

    Alternative splice isoforms for KCNA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNA2 Gene

Proteomics data for KCNA2 Gene at MOPED

Selected DME Specific Peptides for KCNA2 Gene

Post-translational modifications for KCNA2 Gene

  • N-glycosylated, with complex, sialylated N-glycans.
  • Phosphorylated on tyrosine residues; phosphorylation increases in response to ischemia (By similarity). Phosphorylated on tyrosine residues by activated PTK2B/PYK2 (By similarity). Phosphorylation on tyrosine residues suppresses ion channel activity (By similarity). Phosphorylated on tyrosine residues in response to CHRM1 activation; this abolishes interaction with CTTN. This is probably due to endocytosis of the phosphorylated channnel subunits (By similarity). Phosphorylated on serine residues in response to increased cAMP levels; phosphorylation is apparently not catalyzed by PKA (By similarity).
  • Glycosylation at Asn 207
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNA2 Gene

Domains & Families for KCNA2 Gene

Gene Families for KCNA2 Gene

Suggested Antigen Peptide Sequences for KCNA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16389

UniProtKB/Swiss-Prot:

KCNA2_HUMAN :
  • The cytoplasmic N-terminus is important for tetramerization. Interactions between the different subunits modulate the gating characteristics (By similarity). Besides, the cytoplasmic N-terminal domain mediates interaction with RHOA and thus is required for RHOA-mediated endocytosis (By similarity).
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.2/KCNA2 sub-subfamily.
Domain:
  • The cytoplasmic N-terminus is important for tetramerization. Interactions between the different subunits modulate the gating characteristics (By similarity). Besides, the cytoplasmic N-terminal domain mediates interaction with RHOA and thus is required for RHOA-mediated endocytosis (By similarity).
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
Family:
  • Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.2/KCNA2 sub-subfamily.
genes like me logo Genes that share domains with KCNA2: view

Function for KCNA2 Gene

Molecular function for KCNA2 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila shaker-related subfamily,member 2 (mouse Kv1.2 homolog),localized in terminal and juxtaparanodal regions of neurons
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Homotetrameric channels activate rapidly, i.e within a few msec, but inactivation is very slow, with only a marginal decrease in conductance over several seconds. The voltage- dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system, post-translational modifications and the presence or absence of ancillary subunits. For the activation of homotetrameric channels expressed in xenopus oocytes, the threshold is at about -30 mV and the midpoint at about -5 mV. {ECO:0000269 PubMed:19912772};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 4-aminopyridine (4-AP) and charybdotoxin (CTX), but not by tetraethylammonium (TEA) (PubMed:19912772). Inhibited by dendrotoxin (DTX) (By similarity). Inhibited by tityustoxin-K alpha (TsTX-Kalpha), a toxin that is highly specific for KCNA2 (By similarity). Inhibited by maurotoxin (By similarity). Inhibited by kappaM conotoxins kappaM-RIIIJ and kappaM-RIIIK; kappaM-RIIIJ has much higher affinity for channels containing KCNA2 than kappaM-RIIIK, with the exception of heterodimers formed by KCNA2 and KCNA7 where the opposite is true (PubMed:20220134).
UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium-selective 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 (PubMed:19912772, PubMed:8495559, PubMed:11211111, PubMed:23769686). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:8495559, PubMed:20220134). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA2 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:23769686). In contrast, a heteromultimer formed by KCNA2 and KCNA4 shows rapid inactivation (PubMed:8495559). Regulates neuronal excitability and plays a role as pacemaker in the regulation of neuronal action potentials (By similarity). KCNA2-containing channels play a presynaptic role and prevent hyperexcitability and aberrant action potential firing (By similarity). Response to toxins that are selective for KCNA2-containing potassium channels suggests that in Purkinje cells, dendritic subthreshold KCNA2-containing potassium channels prevent random spontaneous calcium spikes, suppressing dendritic hyperexcitability without hindering the generation of somatic action potentials, and thereby play an important role in motor coordination (By similarity). Plays a role in the induction of long-term potentiation of neuron excitability in the CA3 layer of the hippocampus (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) (By similarity). Contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Reduced KCNA2 expression plays a role in the perception of neuropathic pain after peripheral nerve injury, but not acute pain (By similarity). Plays a role in the regulation of the time spent in non-rapid eye movement (NREM) sleep (By similarity).

Enzyme Numbers (IUBMB) for KCNA2 Gene

genes like me logo Genes that share phenotypes with KCNA2: view

Human Phenotype Ontology for KCNA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNA2 Gene

MGI Knock Outs for KCNA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNA2

miRNA for KCNA2 Gene

miRTarBase miRNAs that target KCNA2

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for KCNA2 Gene

Localization for KCNA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNA2 Gene

Cell membrane; Multi-pass membrane protein. Membrane. Cell projection, axon. Cell junction, synapse. Endoplasmic reticulum membrane. Cell projection, lamellipodium membrane. Cell junction, synapse, synaptosome. Cell junction, synapse, presynaptic cell membrane. Cell projection, dendrite. Note=KCNA2 by itself is detected both at the endoplasmic reticulum and at the cell membrane. Coexpression with KCNA4 or with beta subunits promotes expression at the cell membrane. Coexpression with KCNA1 inhibits cell surface expression. {ECO:0000250 UniProtKB:P63142}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNA2 Gene COMPARTMENTS Subcellular localization image for KCNA2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 4
nucleus 3
cytoskeleton 2
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for KCNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IDA 11086297
GO:0030425 dendrite ISS --
GO:0043204 perikaryon ISS --
genes like me logo Genes that share ontologies with KCNA2: view

Pathways & Interactions for KCNA2 Gene

genes like me logo Genes that share pathways with KCNA2: view

Pathways by source for KCNA2 Gene

1 Qiagen pathway for KCNA2 Gene

Gene Ontology (GO) - Biological Process for KCNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS 2251283
genes like me logo Genes that share ontologies with KCNA2: view

No data available for SIGNOR curated interactions for KCNA2 Gene

Drugs & Compounds for KCNA2 Gene

(8) Drugs for KCNA2 Gene - From: DrugBank, DGIdb, IUPHAR, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalfampridine Approved Pharma Pore Blocker, Target, antagonist 65
margatoxin Pharma Inhibitor 0
Anandamide Pharma Antagonist, Pore Blocker 0
Flupirtine maleate Pharma KV7 channel activator 0

(12) Additional Compounds for KCNA2 Gene - From: IUPHAR, Tocris, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
alpha-dendrotoxin
Inhibitor
noxiustoxin
Inhibitor
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7

(5) Tocris Compounds for KCNA2 Gene

Compound Action Cas Number
Flupirtine maleate KV7 channel activator 75507-68-5
L-364,373 KV7.1 channel activator, activates IKs 103342-82-1
NS 1643 KV11.1 (hERG) channel activator; antiarrhythmic 448895-37-2
NS 5806 KV4.3 channel activator 426834-69-7
PD 118057 Selective KV11.1 (hERG) channel activator 313674-97-4
genes like me logo Genes that share compounds with KCNA2: view

Transcripts for KCNA2 Gene

mRNA/cDNA for KCNA2 Gene

(7) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNA2 Gene

Potassium voltage-gated channel, shaker-related subfamily, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNA2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7
SP1: - -
SP2: -
SP3:

Relevant External Links for KCNA2 Gene

GeneLoc Exon Structure for
KCNA2
ECgene alternative splicing isoforms for
KCNA2

Expression for KCNA2 Gene

mRNA expression in normal human tissues for KCNA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNA2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.8), Brain - Cerebellar Hemisphere (x6.0), Brain - Cortex (x6.0), Brain - Cerebellum (x5.4), and Brain - Anterior cingulate cortex (BA24) (x4.6).

Protein differential expression in normal tissues from HIPED for KCNA2 Gene

This gene is overexpressed in Frontal cortex (42.2), Spinal cord (19.7), and Platelet (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for KCNA2 Gene



SOURCE GeneReport for Unigene cluster for KCNA2 Gene Hs.248139

mRNA Expression by UniProt/SwissProt for KCNA2 Gene

P16389-KCNA2_HUMAN
Tissue specificity: Detected in brain cortex (PubMed:16473933). Detected in peroneal nerve in the juxtaparanodal regions of the node of Ranvier; expression is decreased in patients with diabetes mellitus that suffer from axonal neuropathy (PubMed:22649228). Detected in paranodal and juxtanodal zones in myelinated spinal cord (at protein level) (PubMed:11086297).
genes like me logo Genes that share expression patterns with KCNA2: view

Protein tissue co-expression partners for KCNA2 Gene

- Elite partner

Primer Products

Orthologs for KCNA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNA2 35
  • 94.79 (n)
  • 99.8 (a)
KCNA2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNA2 35
  • 93.19 (n)
  • 98.8 (a)
KCNA2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcna2 35
  • 93.92 (n)
  • 99.4 (a)
Kcna2 16
Kcna2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KCNA2 35
  • 99.8 (n)
  • 100 (a)
KCNA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcna2 35
  • 93.99 (n)
  • 99.4 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNA2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNA2 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves KCNA2 35
  • 83.57 (n)
  • 97.8 (a)
KCNA2 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNA2 36
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcna2 35
  • 77.89 (n)
  • 93.99 (a)
African clawed frog
(Xenopus laevis)
Amphibia kcna2-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii kcna2b 35
  • 76.97 (n)
  • 92.73 (a)
KCNA2 (1 of 2) 36
  • 89 (a)
OneToMany
kcna2b 36
  • 93 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Sh 37
  • 72 (a)
Species with no ortholog for KCNA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNA2 Gene

ENSEMBL:
Gene Tree for KCNA2 (if available)
TreeFam:
Gene Tree for KCNA2 (if available)

Paralogs for KCNA2 Gene

(20) SIMAP similar genes for KCNA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNA2: view

Variants for KCNA2 Gene

Sequence variations from dbSNP and Humsavar for KCNA2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_073704 Epileptic encephalopathy, early infantile, 32 (EIEE32)
VAR_073705 Epileptic encephalopathy, early infantile, 32 (EIEE32)
VAR_073706 Epileptic encephalopathy, early infantile, 32 (EIEE32)
VAR_073707 Epileptic encephalopathy, early infantile, 32 (EIEE32)
rs734376 -- 110,606,136(+) AAGCA(A/C)CCCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNA2 Gene

Variant ID Type Subtype PubMed ID
nsv522839 CNV Gain 19592680
nsv520458 CNV Loss 19592680

Variation tolerance for KCNA2 Gene

Residual Variation Intolerance Score: 13.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNA2 Gene

Human Gene Mutation Database (HGMD)
KCNA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNA2 Gene

Disorders for KCNA2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KCNA2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 32
  • eiee32
lymphogranuloma venereum
  • climatic or tropical bubo
episodic ataxia
  • isaacs syndrome
cystoisosporiasis
  • infection by isospora belli and isospora hominis
undetermined early-onset epileptic encephalopathy
  • undetermined eoee
- elite association - COSMIC cancer census association via MalaCards
Search KCNA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNA2_HUMAN
  • Epileptic encephalopathy, early infantile, 32 (EIEE32) [MIM:616366]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. {ECO:0000269 PubMed:25477152, ECO:0000269 PubMed:25751627}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNA2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNA2
genes like me logo Genes that share disorders with KCNA2: view

No data available for Genatlas for KCNA2 Gene

Publications for KCNA2 Gene

  1. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. (PMID: 25751627) Syrbe S. … Lemke J.R. (Nat. Genet. 2015) 3 4 67
  2. Distinct modulation of Kv1.2 channel gating by wild type, but not open form, of syntaxin-1A. (PMID: 17234891) Neshatian L. … Diamant N.E. (Am. J. Physiol. Gastrointest. Liver Physiol. 2007) 3 23
  3. MK2 controls the level of negative feedback in the NF-kappaB pathway and is essential for vascular permeability and airway inflammation. (PMID: 17576778) Gorska M.M. … Alam R. (J. Exp. Med. 2007) 3 23
  4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  5. Cell type-specific inhibition of the ETS transcription factor ER81 by mitogen-activated protein kinase-activated protein kinase 2. (PMID: 11551945) Janknecht R. (J. Biol. Chem. 2001) 3 23

Products for KCNA2 Gene

Sources for KCNA2 Gene

Content