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Kcnc3 Gene Detail
Summary
  • Symbol
    Kcnc3
  • Name
    potassium voltage gated channel, Shaw-related subfamily, member 3
  • Synonyms
    Kcr2-3, KShIIID, Kv3.3
  • Feature Type
    protein coding gene
  • IDs
    MGI:96669
    NCBI Gene: 16504
  • Gene Overview
    MyGene.info: KCNC3
Location & Maps
more
  • Sequence Map
    Chr7:44590664-44604754 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14091 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 28.85 cM
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    KCNC3, potassium voltage-gated channel subfamily C member 3
  • Vertebrate Orthologs
    7
  • Human Ortholog
    KCNC3, potassium voltage-gated channel subfamily C member 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    KSHIIID, KV3.3, SCA13
  • Links
    NCBI Gene ID: 3748
    neXtProt AC: NX_Q14003

  • Chr Location
    19q13.33; chr19:50311942-50333515 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human KCNC3 associations

Human Disease Mouse Models
       Spinocerebellar Ataxia 13; SCA13   OMIM: 605259
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    17 phenotypes from multigenic genotypes
    15 phenotype references
  • All Mutations and Alleles
    4
  • Endonuclease-mediated
    1
  • Gene trapped
    2
  • Targeted
    1
  • Incidental Mutations
Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021883 VEGA Gene Model | MGI Sequence Detail 14091 C57BL/6J ±  kb
transcript OTTMUST00000051948 VEGA | MGI Sequence Detail 5062 Not Applicable  
polypeptide OTTMUSP00000024529 VEGA | MGI Sequence Detail 770 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    89 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000009254 voltage-gated potassium channel KCNC3
  • InterPro Domains
    IPR000210 BTB/POZ domain
    IPR005821 Ion transport domain
    IPR003131 Potassium channel tetramerisation-type BTB domain
    IPR003968 Potassium channel, voltage dependent, Kv
    IPR003974 Potassium channel, voltage dependent, Kv3
    IPR005404 Potassium channel, voltage dependent, Kv3.3
    IPR021105 Potassium channel, voltage dependent, Kv3, inactivation domain
    IPR011333 SKP1/BTB/POZ domain
    IPR027359 Voltage-dependent channel, four helix bundle domain
    IPR028325 Voltage-gated potassium channel
Molecular
Reagents
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  • All nucleic 22
    Genomic 2
    cDNA 19
    Other 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-11573, MGD-MRK-11581
References
more
  • Summaries
    All 44
    Developmental Gene Expression 2
    Gene Ontology 6
    Phenotypes 15
  • Earliest
    J:2312 Ghanshani S, et al., 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. Genomics. 1992 Feb;12(2):190-6
  • Latest
    J:217960 Irie T, et al., Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. J Physiol. 2014 Jan 1;592(Pt 1):229-47

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory