Human Gene KCNC2 (ENST00000298972.5) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily C member 2 (KCNC2), transcript variant 1, mRNA. (from RefSeq NM_139136)
RefSeq Summary (NM_139136): 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
Gencode Transcript: ENST00000298972.5
Gencode Gene: ENSG00000166006.14
Transcript (Including UTRs)
   Position: hg38 chr12:75,040,080-75,209,748 Size: 169,669 Total Exon Count: 6 Strand: -
Coding Region
   Position: hg38 chr12:75,042,313-75,207,983 Size: 165,671 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:75,040,080-75,209,748)mRNA (may differ from genome)Protein (613 aa)
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-  Comments and Description Text from UniProtKB
  ID: KCNC2_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily C member 2; AltName: Full=Voltage-gated potassium channel Kv3.2;
FUNCTION: 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. Channel properties are modulated by subunit assembly (By similarity).
SUBUNIT: The potassium channel is probably composed of a homo- or heterotetrameric complex of pore-forming subunits that can associate with modulating accessory subunits. Interacts with KCNC1, KCNE1, KCNE2 and KCNE3 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
DOMAIN: The tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
SIMILARITY: Belongs to the potassium channel family. C (Shaw) (TC 1.A.1.2) subfamily. Kv3.2/KCNC2 sub-subfamily.
SEQUENCE CAUTION: Sequence=BAE06076.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: KCNC2
Diseases sorted by gene-association score: spinocerebellar ataxia 13 (10)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.91 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 78.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -246.40561-0.439 Picture PostScript Text
3' UTR -255.301160-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR005821 - Ion_trans_dom
IPR003091 - K_chnl
IPR003968 - K_chnl_volt-dep_Kv
IPR003974 - K_chnl_volt-dep_Kv3
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain

ModBase Predicted Comparative 3D Structure on Q96PR1
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGD  WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0044325 ion channel binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0009636 response to toxic substance
GO:0009642 response to light intensity
GO:0014070 response to organic cyclic compound
GO:0014075 response to amine
GO:0021759 globus pallidus development
GO:0032026 response to magnesium ion
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0038060 nitric oxide-cGMP-mediated signaling pathway
GO:0045471 response to ethanol
GO:0050796 regulation of insulin secretion
GO:0051260 protein homooligomerization
GO:0051291 protein heterooligomerization
GO:0055085 transmembrane transport
GO:0071242 cellular response to ammonium ion
GO:0071732 cellular response to nitric oxide
GO:0071805 potassium ion transmembrane transport
GO:0097237 cellular response to toxic substance
GO:1901381 positive regulation of potassium ion transmembrane transport
GO:1903818 positive regulation of voltage-gated potassium channel activity
GO:1990089 response to nerve growth factor

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0016324 apical plasma membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0030425 dendrite
GO:0030673 axolemma
GO:0031982 vesicle
GO:0032809 neuronal cell body membrane
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0043195 terminal bouton
GO:0043204 perikaryon
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AF268897 - Homo sapiens voltage gated potassium channel Kv3.2a mRNA, complete cds; alternatively spliced.
AY243473 - Homo sapiens Kv3.2d voltage gated potassium channel (KCNC2) mRNA, complete cds; alternatively spliced.
AB209994 - Homo sapiens mRNA for KCNC2 variant protein, clone: bh00196.
AK094720 - Homo sapiens cDNA FLJ37401 fis, clone BRAMY2027717, highly similar to VOLTAGE-GATED POTASSIUM CHANNEL PROTEIN KV3.2.
BC093635 - Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2, mRNA (cDNA clone MGC:120670 IMAGE:7939480), complete cds.
BC111991 - Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2, transcript variant 3, mRNA (cDNA clone MGC:138196 IMAGE:8327459), complete cds.
AK294269 - Homo sapiens cDNA FLJ57844 complete cds, highly similar to Potassium voltage-gated channel subfamily C member 2.
AF268896 - Homo sapiens voltage gated potassium channel Kv3.2b mRNA, complete cds.
AY118169 - Homo sapiens potassium voltage-gated potassium channel subfamily C member 2 (KCNC2) mRNA, complete cds.
AB384715 - Synthetic construct DNA, clone: pF1KB2501, Homo sapiens KCNC2 gene for Shaw-related voltage-gated potassium channel protein 2 isoform KV3, complete cds, without stop codon, in Flexi system.
AK309245 - Homo sapiens cDNA, FLJ99286.
AK126235 - Homo sapiens cDNA FLJ44247 fis, clone TKIDN2002318.
JD234873 - Sequence 215897 from Patent EP1572962.
JD359843 - Sequence 340867 from Patent EP1572962.
JD235330 - Sequence 216354 from Patent EP1572962.
JD237307 - Sequence 218331 from Patent EP1572962.
JD089136 - Sequence 70160 from Patent EP1572962.
JD271960 - Sequence 252984 from Patent EP1572962.
JD039911 - Sequence 20935 from Patent EP1572962.
JD306847 - Sequence 287871 from Patent EP1572962.
JD495620 - Sequence 476644 from Patent EP1572962.
JD120742 - Sequence 101766 from Patent EP1572962.
JD271363 - Sequence 252387 from Patent EP1572962.
JD155053 - Sequence 136077 from Patent EP1572962.
JD541860 - Sequence 522884 from Patent EP1572962.
JD489798 - Sequence 470822 from Patent EP1572962.
JD207313 - Sequence 188337 from Patent EP1572962.
JD141878 - Sequence 122902 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96PR1 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-381676 Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
R-HSA-422356 Regulation of insulin secretion
R-HSA-163685 Energy Metabolism
R-HSA-1430728 Metabolism
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000298972.1, ENST00000298972.2, ENST00000298972.3, ENST00000298972.4, KCNC2_HUMAN, NM_139136, Q4LE77, Q86W09, Q8N1V9, Q96PR0, Q96PR1, uc001sxe.1, uc001sxe.2, uc001sxe.3, uc001sxe.4, uc001sxe.5
UCSC ID: ENST00000298972.5
RefSeq Accession: NM_139136
Protein: Q96PR1 (aka KCNC2_HUMAN)
CCDS: CCDS58257.1, CCDS9005.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.