Kcnd2

The Invitae Epilepsy Panel analyzes genes that are associated with both syndromic and nonsyndromic causes of epilepsy, a common neurological disease characterized by recurrent, unprovoked seizures These genes were curated based on the available evidence to date in order to provide a comprehensive analysis for inherited epilepsy Given the clinical overlap of different epilepsy conditions.

Kcnd2. The KCND2 gene is associated with autosomal dominant epilepsy and autism spectrum disorder (PMID , Invitae). KCND2 Potassium voltagegated channel subfamily D member 2 Oryctolagus cuniculus (Rabbit) KCND2 gene & protein Voltagegated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in rodent heart. ID KCND2_HUMAN DESCRIPTION RecName Full=Potassium voltagegated channel subfamily D member 2;.

AntiKv42 Antibody from Alomone Labs is a highly specific rabbit polyclonal Ab directed against an epitope of the rat protein Applications ICC, IHC, IP, WB Free samples available Control antigen included Lyophilized Global shipping at room temp Your top supplier for voltagegated potassium channel research!. Functional analysis revealed the likely pathogenicity of this variant in that the pVal404Met construct showed significantly slowed inactivation, consistent with a gainoffunction effect (PMID ). The KCNQ2 gene belongs to a large family of genes that provide instructions for making potassium channels These channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

KCND2 A gene on chromosome 7q31 that encodes a member of the voltagegated, shalrelated subfamily of potassium channels, which form voltageactivated Atype ion channels and are involved in the repolarisation phase of action potentials KCND2 mediates a rapidly inactivating, Atype outward potassium current. A de novo missense variant (pVal404Met) was identified in the KCND2 gene in monozygotic twins affected with autism and severe, intractable seizures;. For example, signals of selective sweeps of NTRK2, CNGA3, ETFA, ISL2, KCND2, and SYN3 were found in human populations, according to geographic locations (Pickrell et al 09) Evidence for positive selection of IRAK3, LLPH, TMBIM4 , BTBD11, GCK, AKAP3, and CISH were reported in African populations ( Granka et al 12 ;.

FUNCTION Poreforming (alpha) subunit of voltagegated rapidly inactivating Atype potassium channels May contribute to I(To) current in heart and I(Sa) current in neurons Channel properties are modulated by interactions with other. A de novo missense variant (pVal404Met) was identified in the KCND2 gene in monozygotic twins affected with autism and severe, intractable seizures;. Kcnd2 Location Chr bp, strand Genetic Position Chr6, 849 cM Mutation origin Germline Transmission Earliest citation of germline transmission J Parent Cell Line R1 (ES Cell) Strain of Origin (129X1/SvJ x 129S1/Sv)F1Kitl Mutation description Allele.

Symbol Kcnd2 Name potassium voltagegated channel subfamily D member 2 RGD ID 693 Description Exhibits Atype (transient outward) potassium channel activity and voltagegated ion channel activity involved in regulation of postsynaptic membrane potential. Potassium voltagegated channel subfamily D member 3 also known as K v 43 is a protein that in humans is encoded by the KCND3 gene It contributes to the cardiac transient outward potassium current (I to1), the main contributing current to the repolarizing phase 1 of the cardiac action potential. AltName Full=Voltagegated potassium channel subunit Kv42;.

AntiKCND2 (Kv42) antibody is validated on mouse tissue and recommended for immunofluorescence labeling, IHC, or western blot of materials from rodent and human tissues Potassium voltagegated channel subfamily D member 2 (KCND2), also known as Kv42, is is a shalrelated voltagegated potassium channel that is encoded by the KCND2 gene in human. Function i Voltagegated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in rodent heart. Upregulation of miR2233p in AMI repressed the expression of KCND2/Kv42 resulting in reduction of Ito density that can cause APD prolongation and promote arrhythmias in AMI, and therefore knockdown of endogenous miR2233p might be considered a new approach for antiarrhythmic therapy of ischemic a.

AntiKv42 Antibody from Alomone Labs is a highly specific rabbit polyclonal Ab directed against an epitope of the rat protein Applications ICC, IHC, IP, WB Free samples available Control antigen included Lyophilized Global shipping at room temp Your top supplier for voltagegated potassium channel research!. KCND2 upregulation is a valuable prognostic biomarker in gastric cancer patients, in terms of overall survival and recurrencefree survival A mutation, V404M, in the Kv42 channel subunit is associated with infantonset epilepsy and autism. GeneCards Summary for KCND2 Gene KCND2 (Potassium VoltageGated Channel Subfamily D Member 2) is a Protein Coding gene Diseases associated with KCND2 include Early Myoclonic Encephalopathy and Long Qt Syndrome Among its related pathways are Neuroscience and Serotonergic synapse.

KCND2 is a voltagegated potassium channel that plays an important role in the transportation of potassium ions across the membrane in accordance with their electrochemical gradient It plays a very important role in the repolarization phase of the action potential through regulating a rapidly inactivating, Atype outward potassium current. Kcnd2 Location Chr bp, strand Genetic Position Chr6, 849 cM Mutation origin Germline Transmission Earliest citation of germline transmission J Parent Cell Line R1 (ES Cell) Strain of Origin (129X1/SvJ x 129S1/Sv)F1Kitl Mutation description Allele. Kcnd2 tm1a(KOMP)Wtsi KO first allele (reportertagged insertion with conditional potential) Targeting vectors, ES Cells The IMPC Newsletter Get highlights of the most important data releases, news and events, delivered straight to your email inbox Subscribe to newsletter.

Functional Associations KCND2 has 3,396 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 79 datasets. Rabbit polyclonal Kv42/KCND2 antibody Tested in Rat Cited in 4 publication(s) Independently reviewed in 2 review(s) Immunogen corresponding to synthetic peptide. AltName Full=Voltagegated potassium channel subunit Kv42;.

KCND2 (potassium voltagegated channel, Shalrelated subfamily, member 2) is a proteincoding gene GO annotations related to this gene include Atype (transient outward) potassium channel activity and voltagegated potassium channel activity An important paralog of this gene is KCNA6 UniProtKB/SwissProt KCND2_HUMAN, Q9NZV8. KCND2 Antibodies Voltagegated potassium (Kv) channels represent the most complex class of voltagegated 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. Potassium voltagegated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene It contributes to the cardiac transient outward potassium current (I to1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

The relative copy number pipeline used varies by cell line For around 1000 lines, Sanger WES data was used, while for around 700 lines, Broad WES data was used The remaining lines use SNP array data as explained in /sSee /7243 for details on how CN source is chosen per line Lines with WES data were processed through GATK using PONs from TCGA without matched. Function i Voltagegated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in rodent heart. Jarvis et al 12 ).

The gene view histogram is a graphical view of mutations across KCND2 These mutations are displayed at the amino acid level across the full length of the gene by default Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. ID KCND2_HUMAN DESCRIPTION RecName Full=Potassium voltagegated channel subfamily D member 2;. Potassium voltagegated channel subfamily D member 3 also known as K v 43 is a protein that in humans is encoded by the KCND3 gene It contributes to the cardiac transient outward potassium current (I to1), the main contributing current to the repolarizing phase 1 of the cardiac action potential.

Symbol Kcnd2 Name potassium voltagegated channel subfamily D member 2 RGD ID 693 Description Exhibits Atype (transient outward) potassium channel activity and voltagegated ion channel activity involved in regulation of postsynaptic membrane potential. The KCND2 protein, when modified by an enzyme, slows the generation of electrical impulses in neurons The researchers found that altering a single base pair in the KCND2 gene enhanced the ability. KCND2 (KIAA1044, Kv42, RK5) protein expression summary Voltagegated potassium (Kv) channels represent the most complex class of voltagegated ion channels from both functiona l and structural standpoints Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and.

The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. Potassium voltagegated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene It contributes to the cardiac transient outward potassium current (I to1), the main contributing current to the repolarizing phase 1 of the cardiac action potential. Cell type atlas Showing single cell type specific RNA data of KCND2 (KIAA1044, Kv42, RK5).

Functional Associations KCND2 has 3,396 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 79 datasets. AntiKCND2 Antibodies Voltagegated potassium (Kv) channels represent the most complex class of voltagegated ion channels from both functional and structural standpoints. GeneCards Summary for KCND2 Gene KCND2 (potassium voltagegated channel, Shalrelated subfamily, member 2) is a proteincoding gene GO annotations related to this gene include Atype (transient outward) potassium channel activity and voltagegated potassium channel activity An important paralog of this gene is KCNA6.

New susceptibility genes recently proposed and awaiting confirmation include the transient receptor potential melastatin protein4 gene (TRPM4, which encodes a calciumactivated nonselective cation channel) and the KCND2 gene (which encodes the voltagegated potassium channel subfamily D, K v 42) 65. FUNCTION Poreforming (alpha) subunit of voltagegated rapidly inactivating Atype potassium channels May contribute to I(To) current in heart and I(Sa) current in neurons Channel properties are modulated by interactions with other. Kv43 encoded by KCN, KCND2, KCND3), is different Hypokalemia speeds rapid inactivation of I Kr 10 and slows reactivation kinetics of I to,11 reducing outward repolarizing current even with moderate hypokalemia12 Hypokalemia also downregulates I Kr expression within hours14 Thus, despite increasing the driving force for K efflux, hypoka.

Potassium voltagegated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene 5 6 7 It contributes to the cardiac transient outward potassium current (I to1 ), the main contributing current to the repolarizing phase 1 of the cardiac action potential. Summary of KCND2 expression in human tissue Strong staining was observed in adrenal cortex Respiratory epithelium, gastrointestinal cells, renal tubules, Leydig cells, follicle cells, subsets of lymphoid cells and cells in granular layer in cerebellum displayed moderate cytoplasmic staining Remaining normal cells were weakly stained or negative. The KCNH2 gene belongs to a large family of genes that provide instructions for making potassium channels These channels, which transport positively charged atoms (ions) of potassium out of cells, play key roles in a cell's ability to generate and transmit electrical signals.

The gene view histogram is a graphical view of mutations across KCND2 These mutations are displayed at the amino acid level across the full length of the gene by default Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. Through genetic studies, we showed that autosomal dominant earlyonset nocturnal paroxysmal AF is caused by pS447R mutation in KCND2, encoding the poreforming (α) subunit of the Kv42 cardiac potassium channel Kv42, along with Kv43, contributes to the cardiac fast transient outward K current, I to. KCND2 Antibodies Voltagegated potassium (Kv) channels represent the most complex class of voltagegated 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.

KCND2 (KIAA1044, Kv42, RK5) protein expression summary Voltagegated potassium (Kv) channels represent the most complex class of voltagegated ion channels from both functiona l and structural standpoints Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and. Kcnd2 ID ZDBGENE Name potassium voltagegated channel, Shalrelated subfamily, member 2 Symbol kcnd2 Nomenclature History Previous Names sidkey24j93;. Invitrogen AntiKV42 (KCND2) Monoclonal (5B11B9), Catalog # MA5317 Tested in Western Blot (WB), Flow Cytometry (Flow) and ELISA (ELISA) applications This antibody reacts with Human samples Supplied as 100 µL purified antibody (1 mg/mL).

ID KCND2_HUMAN DESCRIPTION RecName Full=Potassium voltagegated channel subfamily D member 2;. AltName Full=Voltagegated potassium channel subunit Kv42;. Browse information about KCND2 (ENSG) covering related drugs, protein structure, pathways, genetic associations, orthologs, RNA expression and cancer.

Browse information about KCND2 (ENSG) covering related drugs, protein structure, pathways, genetic associations, orthologs, RNA expression and cancer. Potassium voltagegated channel subfamily D member 2 is a protein that in humans is encoded by the KCND2 gene It contributes to the cardiac transient outward potassium current (I to1), the main contributing current to the repolarizing phase 1 of the cardiac action potential. Functional analysis revealed the likely pathogenicity of this variant in that the pVal404Met construct showed significantly slowed inactivation, consistent with a gainoffunction effect (PMID ).

FUNCTION Poreforming (alpha) subunit of voltagegated rapidly inactivating Atype potassium channels May contribute to I(To) current in heart and I(Sa) current in neurons Channel properties are modulated by interactions with other. KCND2 Potassium voltagegated channel subfamily D member 2 Oryctolagus cuniculus (Rabbit) KCND2 gene & protein Voltagegated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in rodent heart.