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Aliases for KCNC3 Gene

Aliases for KCNC3 Gene

  • Potassium Voltage-Gated Channel Subfamily C Member 3 2 3 3 5
  • Potassium Channel, Voltage Gated Shaw Related Subfamily C, Member 3 2 3
  • Potassium Voltage-Gated Channel, Shaw-Related Subfamily, Member 3 2 3
  • Voltage-Gated Potassium Channel Subunit Kv3.3 3 4
  • KSHIIID 3 4
  • Shaw-Related Voltage-Gated Potassium Channel Protein 3 3
  • Voltage-Gated Potassium Channel Protein KV3.3 3
  • Spinocerebellar Ataxia 13 2
  • KV3.3 3
  • SCA13 3

External Ids for KCNC3 Gene

Previous HGNC Symbols for KCNC3 Gene

  • SCA13

Previous GeneCards Identifiers for KCNC3 Gene

  • GC19M051447
  • GC19M051180
  • GC19M055494
  • GC19M055510
  • GC19M050815
  • GC19M047156

Summaries for KCNC3 Gene

Entrez Gene Summary for KCNC3 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. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for KCNC3 Gene

KCNC3 (Potassium Voltage-Gated Channel Subfamily C Member 3) is a Protein Coding gene. Diseases associated with KCNC3 include Spinocerebellar Ataxia 13 and Cerebral Palsy, Ataxic, Autosomal Recessive. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Potassium Channels. Gene Ontology (GO) annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNC1.

UniProtKB/Swiss-Prot for KCNC3 Gene

  • Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:26997484, PubMed:22289912, PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484).

Tocris Summary for KCNC3 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 KCNC3 Gene

Additional gene information for KCNC3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNC3 Gene

Genomics for KCNC3 Gene

GeneHancer (GH) Regulatory Elements for KCNC3 Gene

Promoters and enhancers for KCNC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J050328 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.5 +1.9 1912 5.9 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 KCNC3 NR1H2 LOC105372437 NUP62 PRR12 POLD1 ENSG00000268047 PTOV1-AS2 SNORD35A CTU1
GH19J050346 Enhancer 1.1 Ensembl ENCODE 22.8 -14.5 -14514 3.9 PKNOX1 FOXA2 SMAD1 ARID4B DMAP1 IRF4 ZNF48 ZNF143 ATF7 RUNX3 NAPSB KCNC3 NAPSA POLD1 JOSD2 ASPDH EMC10 FAM71E1 KLK2 LOC105372437
GH19J050356 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -25.0 -24976 3 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 E2F8 NAPSB POLD1 NUP62 ENSG00000268047 KCNC3 SNORD35A PTOV1-AS2 PNKP IRF3 SNORD35B
GH19J050695 Enhancer 0.8 FANTOM5 14.8 -361.9 -361859 0.4 MXI1 ZNF777 ZSCAN4 SIN3A ZNF48 POLR2A VEZF1 CREM SP3 NRF1 ASPDH SYT3 KCNC3 LRRC4B SPACA6P-AS FUZ SHANK1 KLK6 PIR41386
GH19J050324 Enhancer 1.3 Ensembl ENCODE dbSUPER 8.6 +7.7 7745 2.3 SIN3A ZNF48 ETS1 SLC30A9 ELK1 ZNF143 ATF7 NFKBIZ SP3 SP5 NAPSB KCNC3 NR1H2 GC19M050323
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNC3 gene promoter:
  • TBP
  • COMP1
  • c-Ets-1
  • AP-2gamma
  • MIF-1
  • Arnt
  • AhR
  • Pax-2a
  • RREB-1

Genomic Locations for KCNC3 Gene

Genomic Locations for KCNC3 Gene
chr19:50,311,937-50,333,515
(GRCh38/hg38)
Size:
21,579 bases
Orientation:
Minus strand
chr19:50,815,194-50,836,772
(GRCh37/hg19)
Size:
21,579 bases
Orientation:
Minus strand

Genomic View for KCNC3 Gene

Genes around KCNC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNC3 Gene

Proteins for KCNC3 Gene

  • Protein details for KCNC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14003-KCNC3_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily C member 3
    Protein Accession:
    Q14003

    Protein attributes for KCNC3 Gene

    Size:
    757 amino acids
    Molecular mass:
    80578 Da
    Quaternary structure:
    • Homotetramer. Heterotetramer with KCNC1 (PubMed:23734863). Interacts (via C-terminus) with HAX1 (PubMed:26997484). Identified in a complex with ACTR3, a subunit of the Arp2/3 complex; this interaction is indirect and depends on the presence of HAX1 (PubMed:26997484). Interaction with HAX1 modulates channel gating (PubMed:26997484).

neXtProt entry for KCNC3 Gene

Post-translational modifications for KCNC3 Gene

Other Protein References for KCNC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNC3 Gene

Domains & Families for KCNC3 Gene

Gene Families for KCNC3 Gene

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

Suggested Antigen Peptide Sequences for KCNC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14003

UniProtKB/Swiss-Prot:

KCNC3_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • The cytoplasmic N-terminus mediates N-type inactivation.
  • The C-terminal cytoplasmic tail contributes to the regulation of channel inactivation and to the interaction with HAX1 and the Arp2/3 complex.
Family:
  • Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.3/KCNC3 sub-subfamily.
genes like me logo Genes that share domains with KCNC3: view

Function for KCNC3 Gene

Molecular function for KCNC3 Gene

UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that plays an important role in the rapid repolarization of fast-firing brain neurons. The channel opens in response to the voltage difference across the membrane, forming a potassium-selective channel through which potassium ions pass in accordance with their electrochemical gradient. The channel displays rapid activation and inactivation kinetics (PubMed:10712820, PubMed:26997484, PubMed:22289912, PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). It plays a role in the regulation of the frequency, shape and duration of action potentials in Purkinje cells. Required for normal survival of cerebellar neurons, probably via its role in regulating the duration and frequency of action potentials that in turn regulate the activity of voltage-gated Ca(2+) channels and cellular Ca(2+) homeostasis (By similarity). Required for normal motor function (PubMed:23734863, PubMed:16501573, PubMed:19953606, PubMed:21479265, PubMed:25756792). Plays a role in the reorganization of the cortical actin cytoskeleton and the formation of actin veil structures in neuronal growth cones via its interaction with HAX1 and the Arp2/3 complex (PubMed:26997484).
GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 3 (mouse Kv3.3 homolog)

Phenotypes From GWAS Catalog for KCNC3 Gene

Gene Ontology (GO) - Molecular Function for KCNC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IMP 19953606
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005267 potassium channel activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with KCNC3: view
genes like me logo Genes that share phenotypes with KCNC3: view

Human Phenotype Ontology for KCNC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNC3 Gene

MGI Knock Outs for KCNC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNC3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNC3 Gene

Localization for KCNC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNC3 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse, presynaptic cell membrane; Multi-pass membrane protein. Perikaryon. Cell projection, axon. Cell projection, dendrite. Cell projection, dendritic spine membrane; Multi-pass membrane protein. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Note=Detected on Purkinje cell dendritic spines (By similarity). Detected at presynaptic calices of Held (By similarity). Colocalizes with the cortical actin cytoskeleton and the Arp2/3 complex (PubMed:26997484). {ECO:0000250 UniProtKB:Q01956, ECO:0000250 UniProtKB:Q63959, ECO:0000269 PubMed:26997484}.

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 KCNC3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS --
GO:0005938 cell cortex IEA --
GO:0008076 voltage-gated potassium channel complex IDA 23734863
genes like me logo Genes that share ontologies with KCNC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNC3 Gene

Pathways & Interactions for KCNC3 Gene

genes like me logo Genes that share pathways with KCNC3: view

Pathways by source for KCNC3 Gene

1 Qiagen pathway for KCNC3 Gene

Gene Ontology (GO) - Biological Process for KCNC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
GO:0051262 protein tetramerization IDA 23734863
genes like me logo Genes that share ontologies with KCNC3: view

No data available for SIGNOR curated interactions for KCNC3 Gene

Drugs & Compounds for KCNC3 Gene

(7) Drugs for KCNC3 Gene - From: DrugBank, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Potassium Approved, Investigational Pharma 0
4-Aminopyridine Approved Pharma Pore Blocker, Inhibitor, Antagonist, Target, antagonist potassium channel-blocking agent 73
tetraethylammonium Experimental, Investigational Pharma Inhibitor, Pore Blocker, Inhibition, Antagonist 1
Chromanol 293B Pharma Antagonist, Pore Blocker IKs blocker. Also blocks ICFTR 0
Flupirtine maleate Pharma KV7 channel activator 0

(4) Tocris Compounds for KCNC3 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 KCNC3: view

Transcripts for KCNC3 Gene

mRNA/cDNA for KCNC3 Gene

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

Unigene Clusters for KCNC3 Gene

Potassium voltage-gated channel, Shaw-related subfamily, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNC3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNC3 Gene

No ASD Table

Relevant External Links for KCNC3 Gene

GeneLoc Exon Structure for
KCNC3
ECgene alternative splicing isoforms for
KCNC3

Expression for KCNC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNC3 Gene

This gene is overexpressed in Brain - Cerebellum (x6.6), Thyroid (x5.5), and Brain - Cerebellar Hemisphere (x5.3).

Protein differential expression in normal tissues from HIPED for KCNC3 Gene

This gene is overexpressed in Adipocyte (40.3), Pancreatic juice (18.8), and Frontal cortex (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KCNC3 Gene



Protein tissue co-expression partners for KCNC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNC3 Gene:

KCNC3

SOURCE GeneReport for Unigene cluster for KCNC3 Gene:

Hs.467146

Evidence on tissue expression from TISSUES for KCNC3 Gene

  • Eye(4)
  • Nervous system(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNC3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • head
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with KCNC3: view

No data available for mRNA Expression by UniProt/SwissProt for KCNC3 Gene

Orthologs for KCNC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KCNC3 34 33
  • 91.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnc3 16 34 33
  • 87.28 (n)
rat
(Rattus norvegicus)
Mammalia Kcnc3 33
  • 86.49 (n)
lizard
(Anolis carolinensis)
Reptilia KCNC3 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497714 33
  • 70.47 (n)
African clawed frog
(Xenopus laevis)
Amphibia kcnc3-A 33
zebrafish
(Danio rerio)
Actinopterygii kcnc3b 34 33
  • 72.68 (n)
OneToMany
kcnc3a 34
  • 68 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Shaw 35
  • 47 (a)
CG4450 35
  • 43 (a)
worm
(Caenorhabditis elegans)
Secernentea shw-3 35
  • 44 (a)
Species where no ortholog for KCNC3 was found in the sources mined by GeneCards:
  • 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 KCNC3 Gene

ENSEMBL:
Gene Tree for KCNC3 (if available)
TreeFam:
Gene Tree for KCNC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KCNC3: view image

Paralogs for KCNC3 Gene

(7) SIMAP similar genes for KCNC3 Gene using alignment to 4 proteins:

  • KCNC3_HUMAN
  • E7ETH1_HUMAN
  • E9PQY4_HUMAN
  • Q6ZSE9_HUMAN
genes like me logo Genes that share paralogs with KCNC3: view

Variants for KCNC3 Gene

Sequence variations from dbSNP and Humsavar for KCNC3 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs104894699 pathogenic, Spinocerebellar ataxia 13, Spinocerebellar ataxia 13 (SCA13) [MIM:605259] 50,323,694(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs104894700 pathogenic, Spinocerebellar ataxia 13, Spinocerebellar ataxia 13 (SCA13) [MIM:605259] 50,323,609(-) G/T coding_sequence_variant, intron_variant, missense_variant
rs148033381 uncertain-significance, not specified, Spinocerebellar ataxia 13 (SCA13) [MIM:605259] 50,323,524(-) C/T coding_sequence_variant, intron_variant, missense_variant
rs549394447 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] 50,323,182(-) T/C coding_sequence_variant, intron_variant, missense_variant
rs769502387 Spinocerebellar ataxia 13 (SCA13) [MIM:605259] 50,323,856(-) C/T coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for KCNC3 Gene

Variant ID Type Subtype PubMed ID
nsv953603 CNV deletion 24416366
nsv523948 CNV gain 19592680
nsv1152956 OTHER inversion 26484159
nsv1140251 OTHER inversion 24896259
nsv1133010 OTHER inversion 24896259
nsv1066389 CNV gain 25217958
esv2673553 CNV deletion 23128226

Variation tolerance for KCNC3 Gene

Residual Variation Intolerance Score: 7.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KCNC3 Gene

Human Gene Mutation Database (HGMD)
KCNC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNC3 Gene

Disorders for KCNC3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for KCNC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KCNC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNC3_HUMAN
  • Spinocerebellar ataxia 13 (SCA13) [MIM:605259]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA13 is an autosomal dominant cerebellar ataxia (ADCA) characterized by slow progression and variable age at onset, ranging from childhood to late adulthood. Mental retardation can be present in some patients. {ECO:0000269 PubMed:16501573, ECO:0000269 PubMed:19953606, ECO:0000269 PubMed:21479265, ECO:0000269 PubMed:22289912, ECO:0000269 PubMed:23734863, ECO:0000269 PubMed:25152487, ECO:0000269 PubMed:25756792}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KCNC3

genes like me logo Genes that share disorders with KCNC3: view

No data available for Genatlas for KCNC3 Gene

Publications for KCNC3 Gene

  1. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. (PMID: 19953606) Figueroa KP … Pulst SM (Human mutation 2010) 3 4 22 58
  2. Kv3.3 potassium channels in lens epithelium and corneal endothelium. (PMID: 10712820) Rae JL … Shepard AR (Experimental eye research 2000) 3 4 22 58
  3. 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 22 58
  4. Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1. (PMID: 1740329) Ghanshani S … Chandy KG (Genomics 1992) 2 3 22 58
  5. Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating. (PMID: 26997484) Zhang Y … Kaczmarek LK (Cell 2016) 3 4 58

Products for KCNC3 Gene

Sources for KCNC3 Gene

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