KCNC3

Protein-coding gene in the species Homo sapiens

KCNC3

Identifiers

KCNC3 , KSHIIID, KV3.3, SCA13, potassium voltage-gated channel subfamily C member 3

External IDs

OMIM: 176264; MGI: 96669; HomoloGene: 3650; GeneCards: KCNC3; OMA:KCNC3 - orthologs

Gene location (Human)
Chromosome 19 (human)
Chr.	Chromosome 19 (human) ^[1]
Chromosome 19 (human) Genomic location for KCNC3 Genomic location for KCNC3
Band	19q13.33	Start	50,311,937 bp ^[1]
Band	19q13.33	End	50,333,515 bp ^[1]

Gene location (Mouse)
Chromosome 7 (mouse)
Chr.	Chromosome 7 (mouse)^[2]
Chromosome 7 (mouse) Genomic location for KCNC3 Genomic location for KCNC3
Band	7 B3\|7 28.85 cM	Start	44,590,664 bp ^[2]
Band	7 B3\|7 28.85 cM	End	44,604,754 bp ^[2]

RNA expression pattern

Bgee

Human	Mouse (ortholog)
Top expressed in right uterine tube cerebellar vermis right hemisphere of cerebellum left lobe of thyroid gland right lobe of thyroid gland vena cava lateral nuclear group of thalamus pons inferior ganglion of vagus nerve external globus pallidus	Top expressed in cerebellar cortex dentate gyrus of hippocampal formation granule cell superior frontal gyrus aortic arch pontine nuclei cerebellar vermis primary visual cortex lobe of cerebellum deep cerebellar nuclei lumbar subsegment of spinal cord
More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	voltage-gated potassium channel activity ion channel activity potassium channel activity voltage-gated ion channel activity delayed rectifier potassium channel activity
Cellular component	integral component of membrane voltage-gated potassium channel complex plasma membrane membrane cytoplasm cytoskeleton cell cortex cell junction axon dendrite dendritic spine membrane presynaptic membrane cell projection perikaryon synapse dendrite membrane neuronal cell body membrane soma
Biological process	potassium ion transport regulation of ion transmembrane transport protein homooligomerization ion transport protein tetramerization transmembrane transport potassium ion transmembrane transport
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


3748


16504

Ensembl


ENSG00000131398


ENSMUSG00000062785

UniProt


Q14003


Q63959

RefSeq (mRNA)

NM_004977
NM_001372305

NM_001290682
NM_008422

RefSeq (protein)

NP_004968
NP_001359234

NP_001277611 NP_001372554 NP_001372555 NP_001372556 NP_001372557
NP_001372558 NP_001372559 NP_001372560 NP_001372561 NP_001372562 NP_001372563 NP_001372564 NP_001372565 NP_001372566 NP_032448

Location (UCSC)

Chr 19: 50.31 – 50.33 Mb

Chr 7: 44.59 – 44.6 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human View/Edit Mouse

Potassium voltage-gated channel, Shaw-related subfamily, member 3 also known as KCNC3 or K_v3.3 is a protein that in humans is encoded by the KCNC3.^[5]

Function

[edit ]

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and comprises 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.^[6]^[7]^[8]

Clinical significance

[edit ]

KCNC3 is associated with spinocerebellar ataxia type 13.^[9]

References

[edit ]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000131398 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000062785 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Ghanshani S, Pak M, McPherson JD, Strong M, Dethlefs B, Wasmuth JJ, Salkoff L, Gutman GA, Chandy KG (February 1992). "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. 12 (2): 190–6. doi:10.1016/0888-7543(92)90365-Y. PMID 1740329.
^ "Entrez Gene: potassium voltage-gated channel".
^ Haas M, Ward DC, Lee J, Roses AD, Clarke V, D'Eustachio P, Lau D, Vega-Saenz de Miera E, Rudy B (December 1993). "Localization of Shaw-related K+ channel genes on mouse and human chromosomes". Mamm. Genome. 4 (12): 711–5. doi:10.1007/BF00357794. PMID 8111118. S2CID 24121259.
^ Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, et al. (December 2005). "International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels". Pharmacol. Rev. 57 (4): 473–508. doi:10.1124/pr.57.4.10. PMID 16382104. S2CID 219195192.
^ Waters MF, Pulst SM (2008). "Sca13". Cerebellum. 7 (2): 165–9. doi:10.1007/s12311-008-0039-7. PMID 18592334. S2CID 62781954.

External links

[edit ]

GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 13

Wang D, Youngson C, Wong V, Yeger H, Dinauer MC, Vega-Saenz Miera E, Rudy B, Cutz E (1996). "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". Proc. Natl. Acad. Sci. U.S.A. 93 (23): 13182–7. Bibcode:1996PNAS...9313182W. doi:10.1073/pnas.93.23.13182 . PMC 24067 . PMID 8917565.
Rae JL, Shepard AR (2000). "Kv3.3 potassium channels in lens epithelium and corneal endothelium". Exp. Eye Res. 70 (3): 339–48. doi:10.1006/exer.1999.0796. PMID 10712820.
Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM (2006). "Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes". Nat. Genet. 38 (4): 447–51. doi:10.1038/ng1758. PMID 16501573. S2CID 16790821.
Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F (2004). "Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families". Arch. Neurol. 61 (5): 727–33. doi:10.1001/archneur.61.5.727 . PMID 15148151.
Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Dürr A, Brice A (2000). "Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation". Am. J. Hum. Genet. 67 (1): 229–35. doi:10.1086/302958. PMC 1287081 . PMID 10820125.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺: Proton channel	HVCN1
M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm: Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

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KCNC3

Function

Clinical significance

See also

References

External links

Further reading