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Aliases & Descriptions for KCNC3
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| KSHIIID 2, 3 | | KV3.3 2 | | Kv3.3 1 | | SCA13 2, 5 |
| | | Descriptions |
|---|
| Shaw-related voltage-gated potassium channel protein 3 2 | | Voltage-gated potassium channel subunit Kv3.3 3 | potassium voltage-gated channel, Shaw-related subfamily, member 3 2 | | spinocerebellar ataxia 13 1 | | voltage-gated potassium channel protein KV3.3 2 |
|
| | Search outside databases for aliases for KCNC3 genePrevious GC identifers: GC19M051447 GC19M051180 GC19M055494 |
Summaries for KCNC3(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for KCNC3: 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] UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003Function: This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient |
Genomic Location for KCNC3
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the KCNC3 gene 
Entrez Gene cytogenetic band: 19q13.3-q13.4 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.33KCNC3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M055510:
(about GC identifiers)
Start:
|
55,507,006 bp from pter |
End:
|
55,524,446 bp from pter |
Size:
|
17,441 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000019.8 NT_011109.15
| Proteins for KCNC3
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003 (See
protein sequence)Recommended Name: Potassium voltage-gated channel subfamily C member 3 Size: 757 amino acids; 80578 Da
Subunit: Heterotetramer of potassium channel proteins (By similarity)
Subcellular location: Membrane; Multi-pass membrane proteinPost-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004968.2
ENSEMBL proteins: ENSP00000375694 ENSP00000366158 ENSP00000303282
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for KCNC3: Assays for KCNC3: | Protein
Domains/ Families for KCNC3(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q14003
ProtoNet protein and cluster: Q14003 4 Blocks protein families: IPB000210 BTB/POZ domain IPB003091 Potassium channel signature IPB003974 Shaw voltage-gated K+ channel family signature IPB005404 Kv3.3 voltage-gated K+ channel signature
UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third positionDomain: The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartmentsSimilarity: Belongs to the potassium channel family. C (Shaw) subfamily | Gene Function for KCNC3
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004977
Applied Biosystems Silencer® siRNAs for KCNC3
Sigma-Aldrich siRNA and siRNA Panels for KCNC3  Sigma-Aldrich shRNA Panels and shRNA for KCNC3  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_004977                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004977                                  untagged cDNA clone in CMV expression vector: NM_004977 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_004977
UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003Function: This protein mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradientGenatlas biochemistry entry for KCNC3:potassium voltage-gated channel,Drosophila Shaw-related subfamily,member 3 (mouse Kv3.3 homolog)4 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Kcnc3):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for KCNC3
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/50 Interacting proteins for KCNC3 (ENSP000003032823) via UniProtKB, MINT, and/or STRING (see all 50
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for KCNC3(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for KCNC3 available from Tocris Bioscience About this table
1 Novoseek chemical compound relationship for KCNC3 gene
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| potassium |
51.79 |
3 |
1740329 (1), 18448641 (1) |
About this table
|
Transcripts for KCNC3(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004977
Sigma-Aldrich siRNA and siRNA Panels for KCNC3  Sigma-Aldrich shRNA Panels and shRNA for KCNC3  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_004977 REFSEQ mRNAs for KCNC3 gene: NM_004977.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004977               OriGene GFP tagged cDNA clone in CMV expression vector: NM_004977                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_004977                                  untagged cDNA clone in CMV expression vector: NM_004977  Additional cDNA sequence: AB208930.1 AF055989.1 AK127492.1 3 DOTS entries: DT.121420498 DT.401973 DT.92009059 21 AceView cDNA sequences:NM_004977 AW512445 AW148990 AI014603 AI796491 AW297613 BE552476 AW173117 AK127492 AF055989 BI087729 AI346263 AI365599 CD244420 BG991639 AA767342 AA860973 BM474777 H16352 BU101932 CB152030
highest scoring ESTs for KCNC3:AF055989 AI796491 AK127492 AW297613 NM_004977 AA767342 AA860973 AB208930 AI346263 AI365599 Unigene Cluster for KCNC3: Potassium voltage-gated channel, Shaw-related subfamily, member 3 Hs.467146 [show with all ESTs]Unigene Representative Sequence: AB208930
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000391818
ENST00000376959
ENST00000305523
|
Expression for KCNC3
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KCNC3 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KCNC3
1 / 2 / 3 8 probe-sets matching KCNC3 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCCCCTTCCC
SOURCE GeneReport for Unigene cluster: Hs.467146
|
Orthologs for KCNC3
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for KCNC3 gene from 5/6 species (see all 6
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
rat (Rattus norvegicus) |
Kcnc31 |
-- |
potassium voltage gated channel, Shaw-related subfamily, more |
88.09(n) 95.98(a) |
117101 NM_053997.3 NP_446449.2 |
mouse (Mus musculus) |
Kcnc31, 5 |
7 (23.00 cM)5
|
potassium voltage gated channel, Shaw-related subfamily, more1, 5 |
88.55(n)1 95.84(a)1 |
165041 NM_008422.21 NP_032448.21 AI8495315 AW4940565 (see all 11) |
zebrafish (Danio rerio) |
LOC5590961 |
-- |
similar to Kv3.3 potassium channel subunit |
72.64(n) 76.1(a) |
559096 XM_682403.2 XP_687495.2 |
fruit fly (Drosophila melanogaster) |
Shaw3 |
24C1--2 |
potassium ion transport voltage-gated potassium more |
47(a) (best of 2) |
-- |
worm (Caenorhabditis elegans) |
shw-33 |
V(12975999-12978929) |
potassium channel protein |
44(a) |
-- |
About this table Species with no ortholog for KCNC3
ENSEMBL Gene Tree for KCNC3 | Paralogs for KCNC3(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for KCNC3 gene
- KCNC22 KCNC42 KCNC12
|
SNPs/Variants for KCNC3(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for KCNC3 (up to first 250kb)
|
Disorders & Mutations for KCNC3
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 176264 disorders: 605259 UniProtKB/Swiss-Prot: KCNC3_HUMAN, Q14003
Defects in KCNC3 are the cause of spinocerebellar ataxia type 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 patientsGeneTests: KCNC3 Spinocerebellar Ataxia Type13 Human Gene Mutation Database: KCNC3 Human Genome Epidemiology Navigator: KCNC3 (1 document)
|
Medical News for KCNC3(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for KCNC3 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/12 PubMed articles for KCNC3 gene (see all 12
):- 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. (PubMed id 1740329)1, 2, 3 Ghanshani S....Chandy K.G. (1992)
- Localization of Shaw-related K+ channel genes on mouse and human chromosomes. (PubMed id 8111118)1, 2, 3 Haas M....Rudy B. (1993)
- Kv3.3 potassium channels in lens epithelium and corneal endothelium. (PubMed id 10712820)1, 3, 4 Rae J.L. and Shepard A.R. (2000)
- Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. (PubMed id 16501573)3, 4 Waters M.F.... Pulst S.M. (2006)
- International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)2, 3 Gutman G.A....Wang X. (2005)
- Sca13. (PubMed id 18592334)3 Waters M.F. and Pulst S.M. (2008)
- Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)3 Brusco A....Taroni F. (2004)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)4 Grimwood J.... Lucas S.M. (2004)
- Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. (PubMed id 10820125)3 Herman-Bert A....Brice A. (2000)
- NADPH-oxidase and a hydrogen peroxide-sensitive K+ channel may function as an oxygen sensor complex in airway chemoreceptors and small cell lung carcinoma cell lines. (PubMed id 8917565)3 Wang D....Cutz E. (1996)
|
Search for KCNC3
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KCNC3
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KCNC3
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNC3(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=KCNC3 |
|
| | | About This Section
| --
| Services for KCNC3(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for KCNC3:

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| | | | Tocris compounds for KCNC3 |
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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