Human Gene KCND2 (ENST00000331113.9) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily D member 2 (KCND2), mRNA. (from RefSeq NM_012281)
RefSeq Summary (NM_012281): Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000331113.9
Gencode Gene: ENSG00000184408.10
Transcript (Including UTRs)
   Position: hg38 chr7:120,273,175-120,750,337 Size: 477,163 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chr7:120,274,633-120,747,858 Size: 473,226 Coding Exon Count: 6 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:120,273,175-120,750,337)mRNA (may differ from genome)Protein (630 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KCND2_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily D member 2; AltName: Full=Voltage-gated potassium channel subunit Kv4.2;
FUNCTION: Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in heart and I(Sa) current in neurons. Channel properties are modulated by interactions with other alpha subunits and with regulatory subunits.
SUBUNIT: Homotetramer or heterotetramer with KCND1 and/or KCND3. Interacts with DPP6, DLG4 and NCS1/FREQ (By similarity). Interacts with DLG1. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4. Probably part of a complex consisting of KCNIP1, KCNIP2 isoform 3 and KCND2. The KCND2-KCNIP2 channel complex contains four KCND2 and four KCNIP2 subunits. Interacts with FLNA, FLNC and DPP10.
INTERACTION: Q9NZI2:KCNIP1; NbExp=4; IntAct=EBI-1646745, EBI-2120635; Q9NS61-3:KCNIP2; NbExp=3; IntAct=EBI-1646745, EBI-1053010;
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell projection, dendrite. Note=Detected in dendrites in cultured hippocampal neurons. Association with KCNIP2 probably enhances cell surface expression.
TISSUE SPECIFICITY: Highly expressed throughout the brain. Expression is very low or absent in other tissues.
DOMAIN: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
PTM: Phosphorylated on serine and threonine residues (By similarity).
SIMILARITY: Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.2/KCND2 sub-subfamily.
SEQUENCE CAUTION: Sequence=BAA82996.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: KCND2
Diseases sorted by gene-association score: cycloplegia (11), gastrointestinal lymphoma (7), long qt syndrome (7), pervasive developmental disorder (6), eye accommodation disease (5)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.80 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 107.12 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 -588.801458-0.404 Picture PostScript Text
3' UTR -544.402479-0.220 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
IPR003975 - K_chnl_volt-dep_Kv4
IPR004055 - K_chnl_volt-dep_Kv4.2
IPR024587 - K_chnl_volt-dep_Kv4_C
IPR021645 - Shal-type
IPR003131 - T1-type_BTB

Pfam Domains:
PF11879 - Domain of unknown function (DUF3399)
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain
PF11601 - Shal-type voltage-gated potassium channels, N-terminal

ModBase Predicted Comparative 3D Structure on Q9NZV8
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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 BrowserNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein Sequence Protein Sequence   
Alignment 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:0005250 A-type (transient outward) potassium channel activity
GO:0005267 potassium channel activity
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0001508 action potential
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007268 chemical synaptic transmission
GO:0019228 neuronal action potential
GO:0019233 sensory perception of pain
GO:0034765 regulation of ion transmembrane transport
GO:0045475 locomotor rhythm
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071456 cellular response to hypoxia
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:0030054 cell junction
GO:0030425 dendrite
GO:0031226 intrinsic component of plasma membrane
GO:0032809 neuronal cell body membrane
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0043204 perikaryon
GO:0044853 plasma membrane raft
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  AB028967 - Homo sapiens KIAA1044 mRNA for KIAA1044 protein.
BC110449 - Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2, mRNA (cDNA clone MGC:119702 IMAGE:40012007), complete cds.
BC110450 - Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2, mRNA (cDNA clone MGC:119703 IMAGE:40012009), complete cds.
AJ010969 - Homo sapiens mRNA for potassium channel Kv4.2.
KJ891499 - Synthetic construct Homo sapiens clone ccsbBroadEn_00893 KCND2 gene, encodes complete protein.
AB384090 - Synthetic construct DNA, clone: pF1KSDA1044, Homo sapiens KCND2 gene for potassium voltage-gated channel subfamily D member 2, complete cds, without stop codon, in Flexi system.
AF121104 - Homo sapiens potassium channel KV4.2 (KCND2) mRNA, complete cds.
AK307139 - Homo sapiens cDNA, FLJ97087.
JD151864 - Sequence 132888 from Patent EP1572962.
JD465688 - Sequence 446712 from Patent EP1572962.
JD478310 - Sequence 459334 from Patent EP1572962.
JD150753 - Sequence 131777 from Patent EP1572962.
JD338361 - Sequence 319385 from Patent EP1572962.
JD155712 - Sequence 136736 from Patent EP1572962.
JD078141 - Sequence 59165 from Patent EP1572962.
JD396377 - Sequence 377401 from Patent EP1572962.
JD142772 - Sequence 123796 from Patent EP1572962.
JD351221 - Sequence 332245 from Patent EP1572962.
JD504991 - Sequence 486015 from Patent EP1572962.
JD336000 - Sequence 317024 from Patent EP1572962.
JD068252 - Sequence 49276 from Patent EP1572962.
JD054557 - Sequence 35581 from Patent EP1572962.
JD444073 - Sequence 425097 from Patent EP1572962.
JD241102 - Sequence 222126 from Patent EP1572962.
JD459534 - Sequence 440558 from Patent EP1572962.
JD335152 - Sequence 316176 from Patent EP1572962.
JD439991 - Sequence 421015 from Patent EP1572962.
JD057297 - Sequence 38321 from Patent EP1572962.
JD491181 - Sequence 472205 from Patent EP1572962.
JD393270 - Sequence 374294 from Patent EP1572962.
JD067042 - Sequence 48066 from Patent EP1572962.
JD171187 - Sequence 152211 from Patent EP1572962.
JD282807 - Sequence 263831 from Patent EP1572962.
JD301753 - Sequence 282777 from Patent EP1572962.
JD151574 - Sequence 132598 from Patent EP1572962.
JD347670 - Sequence 328694 from Patent EP1572962.
JD491454 - Sequence 472478 from Patent EP1572962.
JD060973 - Sequence 41997 from Patent EP1572962.
JD065211 - Sequence 46235 from Patent EP1572962.
JD345091 - Sequence 326115 from Patent EP1572962.
JD146912 - Sequence 127936 from Patent EP1572962.
JD553690 - Sequence 534714 from Patent EP1572962.
JD449056 - Sequence 430080 from Patent EP1572962.
JD235833 - Sequence 216857 from Patent EP1572962.
JD312938 - Sequence 293962 from Patent EP1572962.

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

Protein Q9NZV8 (Reactome details) participates in the following event(s):

R-HSA-5577234 KCND tetramer:KCNIP tetramer transport K+ from cytosol to extrqcellular region
R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-5576894 Phase 1 - inactivation of fast Na+ channels
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-5576891 Cardiac conduction
R-HSA-1296071 Potassium Channels
R-HSA-397014 Muscle contraction
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000331113.1, ENST00000331113.2, ENST00000331113.3, ENST00000331113.4, ENST00000331113.5, ENST00000331113.6, ENST00000331113.7, ENST00000331113.8, KCND2_HUMAN, KIAA1044, NM_012281, O95012, O95021, Q2TBD3, Q9NZV8, Q9UBY7, Q9UN98, Q9UNH9, uc003vjj.1, uc003vjj.2, uc003vjj.3
UCSC ID: ENST00000331113.9
RefSeq Accession: NM_012281
Protein: Q9NZV8 (aka KCND2_HUMAN or KCD2_HUMAN)
CCDS: CCDS5776.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KCND2:
brugada (Brugada Syndrome)

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