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Aliases for KCND2 Gene

Aliases for KCND2 Gene

  • Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 2 2 3
  • Potassium Voltage-Gated Channel, Shal-Related Subfamily, Member 2 2 3
  • Voltage-Gated Potassium Channel Subunit Kv4.2 3 4
  • KIAA1044 4 6
  • Potassium Voltage-Gated Channel Subfamily D Member 2 3
  • Voltage-Sensitive Potassium Channel 3
  • KV4.2 3
  • RK5 3

External Ids for KCND2 Gene

Summaries for KCND2 Gene

Entrez Gene Summary for KCND2 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]

GeneCards Summary for KCND2 Gene

KCND2 (Potassium Channel, Voltage Gated Shal Related Subfamily D, Member 2) is a Protein Coding gene. Diseases associated with KCND2 include long qt syndrome. Among its related pathways are Circadian entrainment and Transmission across Chemical Synapses. GO annotations related to this gene include voltage-gated potassium channel activity and A-type (transient outward) potassium channel activity. An important paralog of this gene is KCNA10.

UniProtKB/Swiss-Prot for KCND2 Gene

  • Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhytm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity (By similarity). Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5 (By similarity). Mediates the transient outward current I(to) in rodent heart left ventricle apex cells, but not in human heart, where this current is mediated by another family member. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:10551270, PubMed:15454437, PubMed:14695263, PubMed:14623880, PubMed:14980201, PubMed:16934482, PubMed:24811166, PubMed:24501278). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:11507158). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCND2 and KCND3; channel properties depend on the type of pore-forming alpha subunits that are part of the channel. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes. Interaction with specific isoforms of the regulatory subunits KCNIP1, KCNIP2, KCNIP3 or KCNIP4 strongly increases expression at the cell surface and thereby increases channel activity; it modulates the kinetics of channel activation and inactivation, shifts the threshold for channel activation to more negative voltage values, shifts the threshold for inactivation to less negative voltages and accelerates recovery after inactivation (PubMed:15454437, PubMed:14623880, PubMed:14980201, PubMed:19171772, PubMed:24501278, PubMed:24811166). Likewise, interaction with DPP6 or DPP10 promotes expression at the cell membrane and regulates both channel characteristics and activity (By similarity).

Tocris Summary for KCND2 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 pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCND2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCND2 Gene

Genomics for KCND2 Gene

Genomic Location for KCND2 Gene

Start:
120,273,635 bp from pter
End:
120,750,333 bp from pter
Size:
476,699 bases
Orientation:
Plus strand

Genomic View for KCND2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCND2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCND2 Gene

Regulatory Elements for KCND2 Gene

Proteins for KCND2 Gene

  • Protein details for KCND2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZV8-KCND2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily D member 2
    Protein Accession:
    Q9NZV8
    Secondary Accessions:
    • O95012
    • O95021
    • Q2TBD3
    • Q9UBY7
    • Q9UN98
    • Q9UNH9

    Protein attributes for KCND2 Gene

    Size:
    630 amino acids
    Molecular mass:
    70537 Da
    Quaternary structure:
    • Homotetramer or heterotetramer with KCND1 or KCND3 (PubMed:14980201, PubMed:16934482, PubMed:24811166). Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4 (PubMed:10676964, PubMed:11287421, PubMed:11847232, PubMed:12451113, PubMed:15358149, PubMed:14623880, PubMed:14980201, PubMed:14980207, PubMed:24811166). In vivo, probably exists as heteromeric complex containing variable proportions of KCND1, KCND2, KCND3, KCNIP1, KCNIP2, KCNIP3, KCNIP4, DPP6 and DPP10 (PubMed:19171772). The tetrameric channel can associate with up to four regulatory subunits, such as KCNIP2 or KCNIP4 (PubMed:14623880, PubMed:14980201, PubMed:24811166). Interaction with four KCNIP4 chains does not reduce interaction with DPP10 (PubMed:24811166). Interacts with DLG4 and NCS1/FREQ (By similarity). Interacts with DLG1 (PubMed:19213956). Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2 (PubMed:15358149). Interacts with FLNA, FLNC, DPP6 and DPP10 (PubMed:11102480, PubMed:15454437, PubMed:24811166).
    Miscellaneous:
    • The transient neuronal A-type potassium current called I(SA) is triggered at membrane potentials that are below the threshold for action potentials. It inactivates rapidly and recovers rapidly from inactivation. It regulates the firing of action potentials and plays a role in synaptic integration and plasticity. Potassium channels containing KCND2 account for about 80% of the neuronal A-type potassium current. In contrast, the potassium channel responsible for the cardiac I(to) current differs between species; it is mediated by KCND2 in rodents. In human and other non-rodents KCND3 may play an equivalent role.
    SequenceCaution:
    • Sequence=BAA82996.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for KCND2 Gene

Proteomics data for KCND2 Gene at MOPED

Post-translational modifications for KCND2 Gene

  • Phosphorylation at Ser-438 in response to MAPK activation is increased in stimulated dendrites. Interaction with KCNIP2 and DPP6 propomtes phosphorylation by PKA at Ser-552. Phosphorylation at Ser-552 has no effect on interaction with KCNIP3, but is required for the regulation of channel activity by KCNIP3. Phosphorylation at Ser-552 leads to KCND2 internalization (By similarity). Phosphorylated by MAPK in response to signaling via the metabotropic glutamate receptor GRM5 (By similarity). Phosphorylation at Ser-616 is required for the down-regulation of neuronal A-type currents in response to signaling via GRM5 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCND2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCND2 Gene

Domains for KCND2 Gene

Gene Families for KCND2 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

UniProtKB/Swiss-Prot:

KCND2_HUMAN
Domain:
  • 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.:
    • Q9NZV8
  • The N-terminal cytoplasmic region can mediate N-type inactivation by physically blocking the channel (PubMed:14695263). This probably does not happen in vivo, where the N-terminal region mediates interaction with regulatory subunits, such as KCNIP1 and KCNIP2 (PubMed:15358149). The zinc binding sites in the N-terminal domain are important for tetramerization and assembly of a functional channel complex (By similarity). Most likely, the channel undergoes closed-state inactivation, where a subtle conformation change would render the protein less sensitive to activation.:
    • Q9NZV8
  • The C-terminal cytoplasmic region is important for normal expression at the cell membrane and modulates the voltage-dependence of channel activation and inactivation (PubMed:16934482). It is required for interaction with KCNIP2, and probably other family members as well (By similarity).:
    • Q9NZV8
Family:
  • Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.2/KCND2 sub-subfamily.:
    • Q9NZV8
genes like me logo Genes that share domains with KCND2: view

Function for KCND2 Gene

Molecular function for KCND2 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,Shal-related family member 2,expressed in brain but not in heart,mediating a rapidly-inactivating transient voltage-sensitive K+,current,rat Kv4.2 homolog
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: Note=Homotetrameric channels activate rapidly, i.e within a few msec. After that, they inactivate rapidly, i.e within about 50- 100 msec. The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system and the presence or absence of ancillary subunits. Homotetrameric channels have a unitary conductance of about 4 pS when expressed in a heterologous system. For the activation of homotetrameric channels expressed in xenopus oocytes, the voltage at half- maximal amplitude is about -10 mV. The time constant for inactivation is about 20 msec. For inactivation, the voltage at half-maximal amplitude is -62 mV. The time constant for recovery after inactivation is about 70 msec. {ECO:0000305 PubMed:11507158, ECO:0000305 PubMed:17917103};
UniProtKB/Swiss-Prot Function: Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Mediates the major part of the dendritic A-type current I(SA) in brain neurons (By similarity). This current is activated at membrane potentials that are below the threshold for action potentials. It regulates neuronal excitability, prolongs the latency before the first spike in a series of action potentials, regulates the frequency of repetitive action potential firing, shortens the duration of action potentials and regulates the back-propagation of action potentials from the neuronal cell body to the dendrites. Contributes to the regulation of the circadian rhytm of action potential firing in suprachiasmatic nucleus neurons, which regulates the circadian rhythm of locomotor activity (By similarity). Functions downstream of the metabotropic glutamate receptor GRM5 and plays a role in neuronal excitability and in nociception mediated by activation of GRM5 (By similarity). Mediates the transient outward current I(to) in rodent heart left ventricle apex cells, but not in human heart, where this current is mediated by another family member. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient (PubMed:10551270, PubMed:15454437, PubMed:14695263, PubMed:14623880, PubMed:14980201, PubMed:16934482, PubMed:24811166, PubMed:24501278). The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:11507158). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCND2 and KCND3; channel properties depend on the type of pore-forming alpha subunits that are part of the channel. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes. Interaction with specific isoforms of the regulatory subunits KCNIP1, KCNIP2, KCNIP3 or KCNIP4 strongly increases expression at the cell surface and thereby increases channel activity; it modulates the kinetics of channel activation and inactivation, shifts the threshold for channel activation to more negative voltage values, shifts the threshold for inactivation to less negative voltages and accelerates recovery after inactivation (PubMed:15454437, PubMed:14623880, PubMed:14980201, PubMed:19171772, PubMed:24501278, PubMed:24811166). Likewise, interaction with DPP6 or DPP10 promotes expression at the cell membrane and regulates both channel characteristics and activity (By similarity).

Gene Ontology (GO) - Molecular Function for KCND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity NAS 11102480
GO:0005250 A-type (transient outward) potassium channel activity ISS --
GO:0005251 NOT delayed rectifier potassium channel activity IBA --
GO:0005515 protein binding IPI 11287421
genes like me logo Genes that share ontologies with KCND2: view
genes like me logo Genes that share phenotypes with KCND2: view

Animal Models for KCND2 Gene

MGI Knock Outs for KCND2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for KCND2 Gene

Localization for KCND2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCND2 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Cell junction, synapse. Perikaryon. Cell junction, synapse, postsynaptic cell membrane. Cell projection, dendritic spine. Cell junction. Note=In neurons, primarily detected on dendrites, dendritic spines and on the neuron cell body, but not on axons. Localized preferentially at the dendrites of pyramidal cells in the hippocampus CA1 layer. Detected at GABAergic synapses. Detected at cell junctions that are distinct from synaptic cell contacts. Detected in lipid rafts. Detected primarily at the endoplasmic reticulum or Golgi when expressed by itself (PubMed:15454437). Interaction with KCNIP1, KCNIP2, KCNIP3 or KCNIP4 promotes expression at the cell membrane (PubMed:15454437, PubMed:24811166). Interaction with DPP6 or DPP10 promotes expression at the cell membrane (By similarity). Internalized from the cell membrane by clathrin-dependent endocytosis in response to activation of AMPA-selective glutamate receptors and PKA-mediated phosphorylation at Ser-552. Redistributed from dendritic spines to the main dendritic shaft in response to activation of AMPA-selective glutamate receptors and activation of PKA (By similarity). {ECO:0000250 UniProtKB:Q63881, ECO:0000250 UniProtKB:Q9Z0V2, ECO:0000269 PubMed:15454437, ECO:0000269 PubMed:24811166}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCND2 Gene COMPARTMENTS Subcellular localization image for KCND2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for KCND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 24811166
GO:0008076 voltage-gated potassium channel complex IDA 15454437
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with KCND2: view

Pathways for KCND2 Gene

genes like me logo Genes that share pathways with KCND2: view

Pathways by source for KCND2 Gene

1 Qiagen pathway for KCND2 Gene
1 KEGG pathway for KCND2 Gene

Gene Ontology (GO) - Biological Process for KCND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001508 action potential TAS 11102480
GO:0006811 ion transport --
GO:0007268 synaptic transmission TAS 11102480
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
genes like me logo Genes that share ontologies with KCND2: view

Compounds for KCND2 Gene

(5) Tocris Compounds for KCND2 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]

(1) HMDB Compounds for KCND2 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(4) Drugbank Compounds for KCND2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Amitriptyline
  • Amitriprolidine
50-48-6 target inhibitor
Dalfampridine
  • 4-Aminopyridine
504-24-5 target antagonist
Disopyramide
  • Disopiramida [INN-Spanish]
3737-09-5 target inhibitor
Imipramine
50-49-7 target inhibitor

(2) Novoseek inferred chemical compound relationships for KCND2 Gene

Compound -log(P) Hits PubMed IDs
potassium 60.1 8
flecainide 53.5 2
genes like me logo Genes that share compounds with KCND2: view

Transcripts for KCND2 Gene

mRNA/cDNA for KCND2 Gene

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

Unigene Clusters for KCND2 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KCND2 Gene

No ASD Table

Relevant External Links for KCND2 Gene

GeneLoc Exon Structure for
KCND2
ECgene alternative splicing isoforms for
KCND2

Expression for KCND2 Gene

mRNA expression in normal human tissues for KCND2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCND2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (12.4) and Brain - Cerebellum (8.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCND2 Gene

SOURCE GeneReport for Unigene cluster for KCND2 Gene Hs.654739

mRNA Expression by UniProt/SwissProt for KCND2 Gene

Q9NZV8-KCND2_HUMAN
Tissue specificity: Detected in ovary, in corpus luteum and in granulosa and theca cells in the follicle (at protein level) (PubMed:15991246). Highly expressed throughout the brain (PubMed:10551270, PubMed:10729221). Detected in amygdala, caudate nucleus, cerebellum, hippocampus, substantia nigra and thalamus (PubMed:10551270, PubMed:10729221). Expression is not detectable or very low in heart, kidney, liver, lung, pancreas and skeletal muscle (PubMed:10551270, PubMed:10729221). Not detectable in human heart atrium (PubMed:12395204).
genes like me logo Genes that share expressions with KCND2: view

Orthologs for KCND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCND2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCND2 36
  • 99.74 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia KCND2 36
  • 91.69 (n)
  • 99.21 (a)
KCND2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 98 (a)
OneToMany
-- 37
  • 95 (a)
OneToMany
-- 37
  • 95 (a)
OneToMany
KCND2 36
  • 86.72 (n)
  • 97.94 (a)
mouse
(Mus musculus)
Mammalia Kcnd2 36
  • 88.89 (n)
  • 99.05 (a)
Kcnd2 16
Kcnd2 37
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCND2 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCND2 37
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnd2 36
  • 89.05 (n)
  • 99.21 (a)
chicken
(Gallus gallus)
Aves KCND2 36
  • 82.59 (n)
  • 93.81 (a)
KCND2 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCND2 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnd2 36
  • 74.08 (n)
  • 84.8 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnd2 36
  • 71.51 (n)
  • 81.31 (a)
kcnd2 37
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007046 36
  • 66.13 (n)
  • 74.04 (a)
fruit fly
(Drosophila melanogaster)
Insecta Shal 36
  • 64.03 (n)
  • 69.62 (a)
Shal 37
  • 66 (a)
OneToMany
Shal 38
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea shl-1 36
  • 60.15 (n)
  • 67.01 (a)
shl-1 37
  • 60 (a)
OneToMany
Y73B6BL.19 38
  • 64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9633 37
  • 47 (a)
OneToMany
Species with no ortholog for KCND2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)

Evolution for KCND2 Gene

ENSEMBL:
Gene Tree for KCND2 (if available)
TreeFam:
Gene Tree for KCND2 (if available)

Paralogs for KCND2 Gene

Selected SIMAP similar genes for KCND2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with KCND2: view

Variants for KCND2 Gene

Sequence variations from dbSNP and Humsavar for KCND2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs140867 -- 120,676,998(+) TTAAA(-/TAAA)CATTC intron-variant
rs702414 -- 120,496,914(+) ACCTA(C/G)TACAA intron-variant
rs702415 -- 120,514,098(+) GATAT(A/G)CTGAT intron-variant
rs702416 -- 120,515,216(+) TTCTG(C/T)TTTTC intron-variant
rs718805 -- 120,379,107(+) ATGAA(A/T)GGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCND2 Gene

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
esv272066 CNV Insertion 20981092
esv274478 CNV Insertion 20981092
esv2672567 CNV Deletion 23128226
esv2663514 CNV Deletion 23128226
nsv5928 CNV Insertion 18451855
nsv516686 CNV Loss 19592680
esv2660098 CNV Deletion 23128226
esv271739 CNV Insertion 20981092
nsv889116 CNV Loss 21882294
esv268561 CNV Insertion 20981092
nsv889117 CNV Loss 21882294
esv2735077 CNV Deletion 23290073
esv2671021 CNV Deletion 23128226
esv2666660 CNV Deletion 23128226
nsv517677 CNV Loss 19592680
nsv818550 CNV Loss 17921354
nsv524688 CNV Loss 19592680
dgv1237e199 CNV Deletion 23128226

Relevant External Links for KCND2 Gene

HapMap Linkage Disequilibrium report
KCND2
Human Gene Mutation Database (HGMD)
KCND2

Disorders for KCND2 Gene

UniProtKB/Swiss-Prot

KCND2_HUMAN
  • Note=KNCD2 mutations have been found in a family with autism and epilepsy and may play a role in disease pathogenesis. Autism is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Epilepsy is characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO:0000269 PubMed:24501278}.
  • Note=A KCND2 mutation leading to the production of a C-terminally truncated protein has been identified in a patient with epilepsy. Epilepsy is characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO:0000269 PubMed:16934482}.

(1) MalaCards Diseases for KCND2 Gene

Search for KCND2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for KCND2 Gene

(2) Novoseek inferred disease relationships for KCND2 Gene

Disease -log(P) Hits PubMed IDs
long qt syndrome 44.4 3
arrhythmia 37.4 2

Relevant External Links for KCND2

Genetic Association Database (GAD)
KCND2
Human Genome Epidemiology (HuGE) Navigator
KCND2
genes like me logo Genes that share disorders with KCND2: view

Publications for KCND2 Gene

  1. Characterization of human Kv4.2 mediating a rapidly-inactivating transient voltage-sensitive K+ current. (PMID: 10551270) Zhu X.-R. … Pongs O. (Recept. Channels 1999) 2 3 4 23
  2. Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA). (PMID: 10729221) Isbrandt D. … Pongs O. (Genomics 2000) 3 4 23
  3. Modulation of Kv4.2 channel expression and gating by dipeptidyl peptidase 10 (DPP10). (PMID: 15454437) Jerng H.H. … Pfaffinger P.J. (Biophys. J. 2004) 3 4 23
  4. Mutations in the genes KCND2 and KCND3 encoding the ion channels Kv4.2 and Kv4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of long QT syndrome. (PMID: 15563876) Frank-Hansen R. … Christiansen M. (Clin. Chim. Acta 2005) 3 23 49
  5. Ito channels are octameric complexes with four subunits of each Kv4.2 and K+ channel-interacting protein 2. (PMID: 14623880) Kim L.A. … Goldstein S.A. (J. Biol. Chem. 2004) 3 4 23

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