KCNC3 potassium voltage-gated channel, Shaw-related subfamily, member 3 [Homo sapiens] - Gene

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Summary

Official Symbol: KCNC3provided by HGNC
Official Full Name: potassium voltage-gated channel, Shaw-related subfamily, member 3provided by HGNC
Primary source: HGNC:6235
See related: Ensembl:ENSG00000131398; HPRD:08886; MIM:176264; Vega:OTTHUMG00000044580
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KV3.3; SCA13; KSHIIID
Summary: 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. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 19q13.33

Sequence :: Chromosome: 19; NC_000019.9 (50818765..50832634, complement)

See KCNC3 in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The KCNC3 mutation casued Spinocerebellar ataxia 13.
Title: Spinocerebellar ataxia 13 and 25.
The spinocerebellar ataxia type 13 mutation of the KV3.3 gene specifically suppresses the excitability of Kv3.3-expressing, fast-spiking neurons in zebrafish
Title: Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish.
Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%.
Title: Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
The p.Arg420His mutation, which results in a nonfunctional channel subunit, was recurrent and associated with late-onset progressive ataxia.
Title: KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
Mutations in the voltage-gated potassium channel KCNC3 are causative for spinocerebellar ataxia 13.
Title: Sca13.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases
Title: Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

In the two families described to date, the spinocerebellar ataxia type 13 (SCA13) phenotype has ranged from slowly progressive childhood-onset cerebellar gait ataxia associated with cerebellar dysarthria and often accompanied by mild mental retardation and occasional seizures to adult-onset progressive ataxia. Life span is not shortened and many persons live beyond age 70 years.

Diagnosis Testing

Diagnosis is based on clinical findings and molecular genetic testing of KCNC3 (also known as KV3.3), the only gene known to be associated with SCA13. Such testing is available on a clinical basis.

Genetic Counseling

SCA13 is inherited in an autosomal dominant manner. Too little data are available to estimate of the proportion of cases resulting from a new mutation. Each child of an individual with SCA13 has a 50% chance of inheriting the mutation. Prenatal diagnosis for SCA13 may be available through laboratories offering custom prenatal testing.

References

PMID: 20301404

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Interactions

Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:109950	BioGRID:113188	SUMO1		BioGRID	PubMed	Affinity Capture-MS

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General gene information

Markers

D19S553 (e-PCR)
- UniSTS:149250

RH27338 (e-PCR)
- UniSTS:85691

D19S219 (e-PCR), detects polymorphism
- UniSTS:57818

Genotypes

See KCNC3 SNP Geneview Report
See KCNC3 SNP Genotype Report
See KCNC3 SNP Variation Viewer Report

Homology

Homologs of the KCNC3 gene: The KCNC3 gene is conserved in cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)

Pathways from BioSystems

Neuronal System, organism-specific biosystem (from REACTOME)
Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
Potassium Channels, organism-specific biosystem (from REACTOME)
Potassium Channels, organism-specific biosystemPotassium channels are tetrameric ion channels that are widely distributed and are found in all cell types. Potassium channels control resting membrane potential in neurons, contribute to regulation ...
Voltage gated Potassium channels, organism-specific biosystem (from REACTOME)
Voltage gated Potassium channels, organism-specific biosystemVoltage-gated K+ channels (Kv) determine the excitability of heart, brain and skeletal muscle cells. Kv form octameric channel with alpha subunits that forms the pore of the channel and associated be...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
voltage-gated ion channel activity	IEA Inferred from Electronic Annotation more info
voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell death	IEA Inferred from Electronic Annotation more info
ion transport	IEA Inferred from Electronic Annotation more info
potassium ion transport	IEA Inferred from Electronic Annotation more info
regulation of neurotransmitter secretion	IEA Inferred from Electronic Annotation more info
synaptic transmission	TAS Traceable Author Statement more info
transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
axolemma	IEA Inferred from Electronic Annotation more info
axon terminus	IEA Inferred from Electronic Annotation more info
dendrite membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
neuromuscular junction	IEA Inferred from Electronic Annotation more info
neuronal cell body membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
voltage-gated potassium channel complex	IEA Inferred from Electronic Annotation more info

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General protein information

Preferred Names: potassium voltage-gated channel subfamily C member 3

Names: potassium voltage-gated channel subfamily C member 3; voltage-gated potassium channel protein KV3.3; voltage-gated potassium channel subunit Kv3.3; Shaw-related voltage-gated potassium channel protein 3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008134.1 RefSeqGene

Range

5001..18870

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004977.2 → NP_004968.2 potassium voltage-gated channel subfamily C member 3

Status: REVIEWED

Source sequence(s)

AF055989

Consensus CDS

CCDS12793.1

UniProtKB/Swiss-Prot

Q14003

Related

ENSP00000434241, OTTHUMP00000232123, ENST00000477616, OTTHUMT00000314288

Conserved Domains (3) summary

pfam00520
Location:350 – 538
Blast Score: 200

Ion_trans; Ion transport protein

cl02518
Location:90 – 184
Blast Score: 334

BTB; BTB/POZ domain

cl11596
Location:493 – 516
Blast Score: 100

Ion_trans_2; Ion channel

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p5 Primary Assembly

Range

50818765..50832634, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

47156998..47170888, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC008655.7 (34801..48670)	None
genomic	CH471135.1	EAW71844.1
genomic	Z11585.1	CAA77671.1
mRNA	AB208930.1	BAD92167.1
mRNA	AF055989.1	AAC24118.1
mRNA	AK127492.1	BAC87004.1
other-genetic	BC156302.1	AAI56303.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q14003.3	GenPept	UniProtKB/Swiss-Prot:Q14003
Q59H29	GenPept	UniProtKB/TrEMBL:Q59H29
Q6ZSE9	GenPept	UniProtKB/TrEMBL:Q6ZSE9