Human Gene KCNA4 (ENST00000328224.7_7) from GENCODE V47lift37
  Description: potassium voltage-gated channel subfamily A member 4 (from RefSeq NM_002233.4)
Gencode Transcript: ENST00000328224.7_7
Gencode Gene: ENSG00000182255.7_9
Transcript (Including UTRs)
   Position: hg19 chr11:30,031,277-30,038,577 Size: 7,301 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr11:30,032,264-30,034,225 Size: 1,962 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:30,031,277-30,038,577)mRNA (may differ from genome)Protein (653 aa)
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ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCNA4_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily A member 4; AltName: Full=HPCN2; AltName: Full=Voltage-gated K(+) channel HuKII; AltName: Full=Voltage-gated potassium channel HBK4; AltName: Full=Voltage-gated potassium channel HK1; AltName: Full=Voltage-gated potassium channel subunit Kv1.4;
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.
SUBUNIT: Heterotetramer of potassium channel proteins. Binds PDZ domains of DLG1, DLG2 and DLG4. Interacts with SIGMAR1 (By similarity). Part of a complex containing KCNA1, KCNAB1 and LGI1 (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
DOMAIN: The N-terminus may be important in determining the rate of inactivation of the channel while the tail may play a role in modulation of channel activity and/or targeting of the channel to specific subcellular compartments.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
SIMILARITY: Belongs to the potassium channel family. A (Shaker) (TC 1.A.1.2) subfamily. Kv1.4/KCNA4 sub-subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KCNA4
Diseases sorted by gene-association score: episodic ataxia (8), episodic ataxia/myokymia syndrome (6), extrinsic cardiomyopathy (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.88 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 25.86 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 -394.101241-0.318 Picture PostScript Text
3' UTR -218.60987-0.221 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
IPR003972 - K_chnl_volt-dep_Kv1
IPR020467 - K_chnl_volt-dep_Kv1.4
IPR012897 - K_chnl_volt-dep_Kv1.4_TID
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain
PF07885 - Ion channel
PF07941 - Potassium channel Kv1.4 tandem inactivation domain

SCOP Domains:
54695 - POZ domain
81324 - Voltage-gated potassium channels

ModBase Predicted Comparative 3D Structure on P22459
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  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:0005267 potassium channel activity
GO:0005515 protein binding
GO:0030955 potassium ion binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport

Cellular Component:
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:0030424 axon
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  JD238732 - Sequence 219756 from Patent EP1572962.
JD296349 - Sequence 277373 from Patent EP1572962.
JD451344 - Sequence 432368 from Patent EP1572962.
M55514 - Human potassium channel (HPCN2) mRNA, complete cds.
JD261966 - Sequence 242990 from Patent EP1572962.
M60450 - Human voltage-gated potassium channel (HK1) mRNA, complete cds.
JD296434 - Sequence 277458 from Patent EP1572962.
L02751 - Human potassium channel mRNA, complete cds.
AK313662 - Homo sapiens cDNA, FLJ94242.
BC166685 - Synthetic construct Homo sapiens clone IMAGE:100066411, MGC:195548 potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4) mRNA, encodes complete protein.
JD556695 - Sequence 537719 from Patent EP1572962.
JD262845 - Sequence 243869 from Patent EP1572962.
JD300488 - Sequence 281512 from Patent EP1572962.
AK311228 - Homo sapiens cDNA, FLJ18270.
JD530827 - Sequence 511851 from Patent EP1572962.
JD501144 - Sequence 482168 from Patent EP1572962.
JD419745 - Sequence 400769 from Patent EP1572962.
JD553028 - Sequence 534052 from Patent EP1572962.
JD186666 - Sequence 167690 from Patent EP1572962.
JD535247 - Sequence 516271 from Patent EP1572962.
JD171747 - Sequence 152771 from Patent EP1572962.
JD049473 - Sequence 30497 from Patent EP1572962.
JD298201 - Sequence 279225 from Patent EP1572962.
JD327962 - Sequence 308986 from Patent EP1572962.
JD092681 - Sequence 73705 from Patent EP1572962.
JD377078 - Sequence 358102 from Patent EP1572962.
JD564712 - Sequence 545736 from Patent EP1572962.
JD157866 - Sequence 138890 from Patent EP1572962.
JD087553 - Sequence 68577 from Patent EP1572962.
JD560489 - Sequence 541513 from Patent EP1572962.
JD417996 - Sequence 399020 from Patent EP1572962.
JD373739 - Sequence 354763 from Patent EP1572962.
JD397439 - Sequence 378463 from Patent EP1572962.
JD376548 - Sequence 357572 from Patent EP1572962.
JD249228 - Sequence 230252 from Patent EP1572962.
JD132002 - Sequence 113026 from Patent EP1572962.
JD321673 - Sequence 302697 from Patent EP1572962.
JD403029 - Sequence 384053 from Patent EP1572962.
JD530089 - Sequence 511113 from Patent EP1572962.
JD118574 - Sequence 99598 from Patent EP1572962.
JD069647 - Sequence 50671 from Patent EP1572962.
JD144286 - Sequence 125310 from Patent EP1572962.
JD074361 - Sequence 55385 from Patent EP1572962.
JD229396 - Sequence 210420 from Patent EP1572962.
JD368682 - Sequence 349706 from Patent EP1572962.
JD154875 - Sequence 135899 from Patent EP1572962.
JD403751 - Sequence 384775 from Patent EP1572962.
JD267587 - Sequence 248611 from Patent EP1572962.

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

Protein P22459 (Reactome details) participates in the following event(s):

R-HSA-1296127 Activation of voltage gated Potassium channels
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: ENST00000328224.1, ENST00000328224.2, ENST00000328224.3, ENST00000328224.4, ENST00000328224.5, ENST00000328224.6, KCNA4L, KCNA4_HUMAN, NM_002233, P22459, uc317slm.1, uc317slm.2
UCSC ID: ENST00000328224.7_7
RefSeq Accession: NM_002233.4
Protein: P22459 (aka KCNA4_HUMAN or CIK4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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