Human Gene KCNB2 (ENST00000523207.2) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily B member 2 (KCNB2), mRNA. (from RefSeq NM_004770)
RefSeq Summary (NM_004770): 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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000523207.2
Gencode Gene: ENSG00000182674.6
Transcript (Including UTRs)
   Position: hg38 chr8:72,537,225-72,938,349 Size: 401,125 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr8:72,567,735-72,938,091 Size: 370,357 Coding Exon Count: 2 

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 (chr8:72,537,225-72,938,349)mRNA (may differ from genome)Protein (911 aa)
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-  Comments and Description Text from UniProtKB
  ID: KCNB2_HUMAN
DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily B member 2; AltName: Full=Voltage-gated potassium channel subunit Kv2.2;
FUNCTION: Mediates the voltage-dependent potassium ion permeability of excitable membranes. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient.
SUBUNIT: Heteromultimer with KCNS1, KCNS2 and KCNS3 (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.
PTM: Phosphorylated (Potential).
SIMILARITY: Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.2/KCNB2 sub-subfamily.
SEQUENCE CAUTION: Sequence=AAB08433.1; Type=Frameshift; Positions=768;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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: KCNB2
Diseases sorted by gene-association score: brugada syndrome (2)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.71 RPKM in Brain - Cortex
Total median expression: 10.73 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 -342.40754-0.454 Picture PostScript Text
3' UTR -40.60258-0.157 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
IPR003973 - K_chnl_volt-dep_Kv2
IPR005826 - K_chnl_volt-dep_Kv2.2
IPR003131 - T1-type_BTB

Pfam Domains:
PF00520 - Ion transport protein
PF02214 - BTB/POZ domain
PF03521 - Kv2 voltage-gated K+ channel

ModBase Predicted Comparative 3D Structure on Q92953
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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 BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment 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:0046982 protein heterodimerization activity

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006940 regulation of smooth muscle contraction
GO:0034765 regulation of ion transmembrane transport
GO:0051260 protein homooligomerization
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0032809 neuronal cell body membrane
GO:0042995 cell projection
GO:0043204 perikaryon


-  Descriptions from all associated GenBank mRNAs
  AF338730 - Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA, complete cds.
AK311263 - Homo sapiens cDNA, FLJ18305.
U69962 - Human delayed rectifier potassium channel protein mRNA, complete cds.
BC140387 - Synthetic construct Homo sapiens clone IMAGE:100014461, MGC:173154 potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2) mRNA, encodes complete protein.
AF450111 - Homo sapiens voltage-gated potassium channel alpha subunit Kv2.2 mRNA, complete cds.
JD463428 - Sequence 444452 from Patent EP1572962.
JD140491 - Sequence 121515 from Patent EP1572962.
JD151703 - Sequence 132727 from Patent EP1572962.
JD184601 - Sequence 165625 from Patent EP1572962.
JD124830 - Sequence 105854 from Patent EP1572962.
JD129053 - Sequence 110077 from Patent EP1572962.
JD343465 - Sequence 324489 from Patent EP1572962.
JD202879 - Sequence 183903 from Patent EP1572962.
JD194046 - Sequence 175070 from Patent EP1572962.
JD546774 - Sequence 527798 from Patent EP1572962.
JD387082 - Sequence 368106 from Patent EP1572962.
JD407960 - Sequence 388984 from Patent EP1572962.
JD168837 - Sequence 149861 from Patent EP1572962.

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

Protein Q92953 (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: ENST00000523207.1, KCNB2_HUMAN, NM_004770, Q7Z7D0, Q92953, Q9BXD3, uc003xzb.1, uc003xzb.2, uc003xzb.3, uc003xzb.4
UCSC ID: ENST00000523207.2
RefSeq Accession: NM_004770
Protein: Q92953 (aka KCNB2_HUMAN or KCB2_HUMAN)
CCDS: CCDS6209.1

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