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Aliases for KCNC2 Gene

Aliases for KCNC2 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 2 2 3 5
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 2 2 3
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 2 2 3
  • Voltage-Gated Potassium Channel Kv3.2 3 4
  • Shaw-Like Potassium Channel 3 4
  • KV3.2 3

External Ids for KCNC2 Gene

Previous GeneCards Identifiers for KCNC2 Gene

  • GC12P074022
  • GC12M075342
  • GC12M075150
  • GC12M073720
  • GC12M075433
  • GC12M072483

Summaries for KCNC2 Gene

Entrez Gene Summary for KCNC2 Gene

  • The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

GeneCards Summary for KCNC2 Gene

KCNC2 (Potassium Voltage-Gated Channel Subfamily C Member 2) is a Protein Coding gene. Diseases associated with KCNC2 include Spinocerebellar Ataxia 13. Among its related pathways are Metabolism and Aquaporin-mediated transport. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNC4.

UniProtKB/Swiss-Prot for KCNC2 Gene

  • Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric 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:15709110). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed:15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity).

Tocris Summary for KCNC2 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 KCNC2 Gene

Additional gene information for KCNC2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNC2 Gene

Genomics for KCNC2 Gene

Regulatory Elements for KCNC2 Gene

Enhancers for KCNC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H075177 1.3 FANTOM5 Ensembl ENCODE 11.8 +31.8 31835 1.4 JUN ZEB1 HIC1 ZNF366 POLR2A FOSL2 FOS SMARCE1 CEBPB DPF2 KCNC2 GC12M075050
GH12H075508 1.7 FANTOM5 ENCODE dbSUPER 8.8 -300.9 -300855 4.9 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ZNF207 KRR1 ENSG00000257497 GLIPR1L2 GLIPR1L1 GLIPR1 CAPS2 PHLDA1 KCNC2
GH12H075130 0.7 ENCODE 10.1 +78.8 78823 0.2 PKNOX1 ZEB1 CTBP1 GATA3 POLR2A FOS SMARCE1 RFX1 DPF2 KLF4 KCNC2 GC12M075050
GH12H075507 0.8 FANTOM5 dbSUPER 8.8 -297.5 -297514 0.5 ATF7 ATF2 KRR1 GLIPR1L1 GLIPR1 CAPS2 GLIPR1L2 PHLDA1 KCNC2 ENSG00000257497
GH12H075505 0.8 ENCODE dbSUPER 8.8 -296.2 -296197 0.9 CTCF ZNF654 POLR2A ZBTB11 SMC3 ZNF143 RAD21 GLIPR1L2 GLIPR1L1 GLIPR1 CAPS2 PHLDA1 KCNC2 KRR1 ENSG00000257497
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNC2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KCNC2 Gene

Genomic Locations for KCNC2 Gene
chr12:75,040,077-75,209,868
(GRCh38/hg38)
Size:
169,792 bases
Orientation:
Minus strand
chr12:75,433,857-75,603,648
(GRCh37/hg19)

Genomic View for KCNC2 Gene

Genes around KCNC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC2 Gene

Proteins for KCNC2 Gene

  • Protein details for KCNC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PR1-KCNC2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily C member 2
    Protein Accession:
    Q96PR1
    Secondary Accessions:
    • B7Z231
    • F5H030
    • J3KPP5
    • Q4LE77
    • Q86W09
    • Q8N1V9
    • Q96PR0

    Protein attributes for KCNC2 Gene

    Size:
    638 amino acids
    Molecular mass:
    70226 Da
    Quaternary structure:
    • Homotetramer and heterotetramer with other channel-forming alpha subunits, such as KCNC1. Interacts with KCNC1. Homotetramer or heterotetramer channel activity is regulated by association with modulating ancillary subunits such as KCNE1, KCNE2 and KCNE3, creating a functionally diverse range of channel complexes. Interacts with KCNE1, KCNE2 and KCNE3.
    SequenceCaution:
    • Sequence=BAE06076.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNC2 Gene

neXtProt entry for KCNC2 Gene

Post-translational modifications for KCNC2 Gene

  • Phosphorylated by PKA in cortical synaptosomes. cAMP-dependent phosphorylation inhibits channel activity (By similarity). Histamine H2 receptor- and PKA-induced phosphorylation extends action potential spike duration, reduces action potential spike amplitude, sustains maximum firing frequency in hippocampal interneurons; also reduces the incidence of high-frequency oscillations in hippocampal CA3 pyramidal cell layers.
  • Glycosylation at posLast=259259 and isoforms=2, 3, 4, 5, 6266
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KCNC2 Gene

Domains & Families for KCNC2 Gene

Gene Families for KCNC2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for KCNC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96PR1

UniProtKB/Swiss-Prot:

KCNC2_HUMAN :
  • 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.
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.2/KCNC2 sub-subfamily.
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.
Family:
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.2/KCNC2 sub-subfamily.
genes like me logo Genes that share domains with KCNC2: view

Function for KCNC2 Gene

Molecular function for KCNC2 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 2 (mouse Kv3.2 homolog)
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Homotetrameric channels expressed in xenopus oocytes or in mammalian non-neuronal cells display delayed-rectifier voltage- dependent potassium currents, that are rapidly activated during membrane depolarization, i.e within a risetime of a few msec. After that, inactivates very slowly, i.e within about >800 msec. Their activation requires a threshold potential at about -10 mV, with a midpoint activation at about 12.1 mV and a steepness parameter of about 8.4 mV. The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system, the presence or absence of ancillary subunits and post- translational modifications. {ECO:0000250 UniProtKB:P22462, ECO:0000269 PubMed:15709110, ECO:0000305 PubMed:10414303};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Stichodactyla helianthus peptide ShK (PubMed:15709110). Inhibited by millimolar levels of tetraethylammonium (TEA). Contrary to other channels, inhibited only by millimolar levels of 4-aminopyridine (4-AP) (By similarity).
UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain. Contributes to the regulation of the fast action potential repolarization and in sustained high-frequency firing in neurons of the central nervous system. Homotetramer channels mediate delayed-rectifier voltage-dependent potassium currents that activate rapidly at high-threshold voltages and inactivate slowly. Forms tetrameric 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:15709110). Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNC1, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel. Channel properties may be modulated either by the association with ancillary subunits, such as KCNE1, KCNE2 or KCNE3 or indirectly by nitric oxide (NO) through a cGMP- and PKG-mediated signaling cascade, slowing channel activation and deactivation of delayed rectifier potassium channels (By similarity). Contributes to fire sustained trains of very brief action potentials at high frequency in retinal ganglion cells, thalamocortical and suprachiasmatic nucleus (SCN) neurons and in hippocampal and neocortical interneurons (PubMed:15709110). Sustained maximal action potential firing frequency in inhibitory hippocampal interneurons is negatively modulated by histamine H2 receptor activation in a cAMP- and protein kinase (PKA) phosphorylation-dependent manner. Plays a role in maintaining the fidelity of synaptic transmission in neocortical GABAergic interneurons by generating action potential (AP) repolarization at nerve terminals, thus reducing spike-evoked calcium influx and GABA neurotransmitter release. Required for long-range synchronization of gamma oscillations over distance in the neocortex. Contributes to the modulation of the circadian rhythm of spontaneous action potential firing in suprachiasmatic nucleus (SCN) neurons in a light-dependent manner (By similarity).

Phenotypes From GWAS Catalog for KCNC2 Gene

Gene Ontology (GO) - Molecular Function for KCNC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity ISS --
GO:0005251 delayed rectifier potassium channel activity ISS --
GO:0005267 potassium channel activity IEA --
GO:0044325 ion channel binding IEA --
genes like me logo Genes that share ontologies with KCNC2: view
genes like me logo Genes that share phenotypes with KCNC2: view

Animal Models for KCNC2 Gene

MGI Knock Outs for KCNC2:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNC2 Gene

Localization for KCNC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC2 Gene

Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Perikaryon. Cell projection, axon. Cell projection, dendrite. Cell junction, synapse, postsynaptic cell membrane. Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse, synaptosome. Cell junction, synapse. Apical cell membrane. Basolateral cell membrane. Note=Colocalizes with parvalbumin in globus pallidus neurons. Localizes in thalamocortical axons and synapses. Localizes on the surface of cell somata, proximal dendrites and axonal membranes. Also detected throughout the neuropil. Localized in starburst cell somata and proximal dendrite processes. Colocalized with GABA in presynaptic terminals. Clustered in patches in somatic and proximal dendritic membrane as well as in axons and presnypatic terminals of GABAergic interneurons; some of these patches are found near postsynaptic sites. {ECO:0000250 UniProtKB:P22462, ECO:0000250 UniProtKB:Q14B80}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNC2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0008076 voltage-gated potassium channel complex ISS --
GO:0016020 membrane ISS --
genes like me logo Genes that share ontologies with KCNC2: view

Pathways & Interactions for KCNC2 Gene

genes like me logo Genes that share pathways with KCNC2: view

Gene Ontology (GO) - Biological Process for KCNC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0009636 response to toxic substance IEA --
GO:0009642 response to light intensity IEA --
genes like me logo Genes that share ontologies with KCNC2: view

No data available for SIGNOR curated interactions for KCNC2 Gene

Drugs & Compounds for KCNC2 Gene

(6) Drugs for KCNC2 Gene - From: DrugBank, DGIdb, and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, Target, antagonist potassium channel-blocking agent 71
tetraethylammonium Experimental Pharma Inhibitor 1
ShK Toxin Pharma Pore Blocker 0

(1) Additional Compounds for KCNC2 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNC2 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNC2: view

Transcripts for KCNC2 Gene

Unigene Clusters for KCNC2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNC2 Gene

No ASD Table

Relevant External Links for KCNC2 Gene

GeneLoc Exon Structure for
KCNC2
ECgene alternative splicing isoforms for
KCNC2

Expression for KCNC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNC2 Gene

mRNA differential expression in normal tissues according to GTEx for KCNC2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x12.6), Brain - Anterior cingulate cortex (BA24) (x12.3), Brain - Cortex (x8.5), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for KCNC2 Gene

This gene is overexpressed in Frontal cortex (32.9), Adipocyte (22.5), and Retina (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNC2 Gene



Protein tissue co-expression partners for KCNC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNC2 Gene:

KCNC2

SOURCE GeneReport for Unigene cluster for KCNC2 Gene:

Hs.27214

Evidence on tissue expression from TISSUES for KCNC2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with KCNC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNC2 Gene

Orthologs for KCNC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNC2 33 34
  • 99.17 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNC2 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNC2 33 34
  • 91.67 (n)
rat
(Rattus norvegicus)
Mammalia Kcnc2 33
  • 90.28 (n)
mouse
(Mus musculus)
Mammalia Kcnc2 33 16 34
  • 89.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 84 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves KCNC2 33 34
  • 85.49 (n)
lizard
(Anolis carolinensis)
Reptilia KCNC2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnc2 33
  • 78.27 (n)
zebrafish
(Danio rerio)
Actinopterygii kcnc2 33 34
  • 70.09 (n)
fruit fly
(Drosophila melanogaster)
Insecta Shaw 35 33
  • 60.12 (n)
CG4450 35
  • 48 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008200 33
  • 58.39 (n)
worm
(Caenorhabditis elegans)
Secernentea shw-1 33
  • 54.36 (n)
shw-3 35
  • 42 (a)
Species where no ortholog for KCNC2 was found in the sources mined by GeneCards:
  • 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)
  • cow (Bos Taurus)
  • 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)

Evolution for KCNC2 Gene

ENSEMBL:
Gene Tree for KCNC2 (if available)
TreeFam:
Gene Tree for KCNC2 (if available)

Paralogs for KCNC2 Gene

(15) SIMAP similar genes for KCNC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNC2: view

Variants for KCNC2 Gene

Sequence variations from dbSNP and Humsavar for KCNC2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000005562 -- 75,132,152(+) ATATA(A/C)CCCTC intron-variant
rs1000021708 -- 75,140,693(+) GATAT(A/T)TAATG intron-variant
rs1000032531 -- 75,104,058(+) ATCAT(C/G/T)GAGCC intron-variant
rs1000058093 -- 75,060,104(+) ATTTA(C/T)ACTTG intron-variant
rs1000076528 -- 75,081,031(+) GAGGA(A/T)AAAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNC2 Gene

Variant ID Type Subtype PubMed ID
nsv832462 CNV gain 17160897
nsv559421 CNV gain 21841781
nsv559420 CNV loss 21841781
nsv522290 CNV gain 19592680
nsv519821 CNV loss 19592680
nsv1134241 CNV deletion 24896259
esv3630007 CNV loss 21293372

Variation tolerance for KCNC2 Gene

Residual Variation Intolerance Score: 30.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNC2 Gene

Human Gene Mutation Database (HGMD)
KCNC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNC2 Gene

Disorders for KCNC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNC2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 13
  • spinocerebellar ataxia type 13
- elite association - COSMIC cancer census association via MalaCards
Search KCNC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNC2
genes like me logo Genes that share disorders with KCNC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNC2 Gene

Publications for KCNC2 Gene

  1. Localization of Shaw-related K+ channel genes on mouse and human chromosomes. (PMID: 8111118) Haas M … Rudy B (Mammalian genome : official journal of the International Mammalian Genome Society 1993) 2 3 4 22 60
  2. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman GA … Wang X (Pharmacological reviews 2005) 2 3 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. Kv3.1-containing K(+) channels are reduced in untreated schizophrenia and normalized with antipsychotic drugs. (PMID: 23628987) Yanagi M … Tamminga CA (Molecular psychiatry 2014) 3 60
  5. Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia. (PMID: 23475819) Rajakulendran S … Stewart H (Journal of neurology, neurosurgery, and psychiatry 2013) 3 60

Products for KCNC2 Gene

Sources for KCNC2 Gene

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