Human Gene KCNAB2 (ENST00000378083.8) from GENCODE V44
  Description: Homo sapiens potassium voltage-gated channel subfamily A regulatory beta subunit 2 (KCNAB2), transcript variant 5, mRNA. (from RefSeq NM_001199862)
RefSeq Summary (NM_001199862): 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, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010].
Gencode Transcript: ENST00000378083.8
Gencode Gene: ENSG00000069424.16
Transcript (Including UTRs)
   Position: hg38 chr1:6,045,888-6,101,180 Size: 55,293 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr1:6,051,537-6,098,574 Size: 47,038 Coding Exon Count: 15 

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 (chr1:6,045,888-6,101,180)mRNA (may differ from genome)Protein (415 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Voltage-gated potassium channel subunit beta-2; AltName: Full=K(+) channel subunit beta-2; AltName: Full=Kv-beta-2; Short=hKvbeta2;
FUNCTION: Accessory potassium channel protein which modulates the activity of the pore-forming alpha subunit. Alters functional properties of Kv1.4.
SUBUNIT: Forms heteromultimeric complex with alpha subunits. Forms a ternary complex with SQSTM1 and PRKCZ (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (Potential).
DOMAIN: Alteration of functional properties of alpha subunit is mediated through N-terminal domain of beta subunit (Probable).
PTM: Phosphorylated by PRKCZ; may be regulated by incorporation in a complex composed of PRKCZ and SQSTM1 (By similarity).
SIMILARITY: Belongs to the shaker potassium channel beta subunit family.

-  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: KCNAB2
Diseases sorted by gene-association score: chromosome 1p36 deletion syndrome* (31)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C400184 1-palmitoyl-2-(5-oxovaleroyl)-sn-glycero-3-phosphorylcholine
  • C500238 1-palmitoyl-2-(epoxycyclopentenone)-sn-glycero-3-phosphocholine
  • C500237 1-palmitoyl-2-(epoxyisoprostane-E2)-sn-glycero-3-phosphocholine
  • C468114 1-palmitoyl-2-arachidonyl-3-phosphorylcholine
  • C547126 AZM551248
  • D000643 Ammonium Chloride
  • D002330 Carmustine
  • D002762 Cholecalciferol
  • D002794 Choline
  • D004051 Diethylhexyl Phthalate
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 78.54 RPKM in Brain - Cortex
Total median expression: 702.09 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 -89.40322-0.278 Picture PostScript Text
3' UTR -1162.402606-0.446 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
IPR001395 - Aldo/ket_red
IPR005983 - K_chnl_volt-dep_bsu_KCNAB
IPR005399 - K_chnl_volt-dep_bsu_KCNAB-rel
IPR005401 - K_chnl_volt-dep_bsu_KCNAB2
IPR023210 - NADP_OxRdtase_dom

Pfam Domains:
PF00248 - Aldo/keto reductase family

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1ZSX - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q13303
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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein SequenceProtein Sequence   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004033 aldo-keto reductase (NADP) activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0015459 potassium channel regulator activity
GO:0016491 oxidoreductase activity

Biological Process:
GO:0002244 hematopoietic progenitor cell differentiation
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0034220 ion transmembrane transport
GO:0034765 regulation of ion transmembrane transport
GO:0043312 neutrophil degranulation
GO:0050905 neuromuscular process
GO:0055114 oxidation-reduction process
GO:0070995 NADPH oxidation
GO:0071805 potassium ion transmembrane transport
GO:1901379 regulation of potassium ion transmembrane transport
GO:2000008 regulation of protein localization to cell surface

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0014069 postsynaptic density
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030424 axon
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane
GO:0035579 specific granule membrane
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043679 axon terminus
GO:0044224 juxtaparanode region of axon
GO:0045202 synapse
GO:0070821 tertiary granule membrane
GO:1990031 pinceau fiber
GO:0005874 microtubule

-  Descriptions from all associated GenBank mRNAs
  AK289819 - Homo sapiens cDNA FLJ78464 complete cds, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 1, mRNA.
AK315811 - Homo sapiens cDNA, FLJ79460 complete cds, highly similar to Voltage-gated potassium channel subunitbeta-2.
AK312395 - Homo sapiens cDNA, FLJ92727, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 1, mRNA.
AK290044 - Homo sapiens cDNA FLJ77679 complete cds, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 1, mRNA.
BC110351 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2, mRNA (cDNA clone MGC:117289 IMAGE:5214271), complete cds.
AK312871 - Homo sapiens cDNA, FLJ93315, highly similar to Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 2, mRNA.
BC126424 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2, mRNA (cDNA clone MGC:161702 IMAGE:8992140), complete cds.
BC130413 - Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2, mRNA (cDNA clone MGC:163285 IMAGE:40146444), complete cds.
AK124696 - Homo sapiens cDNA FLJ42706 fis, clone BRAMY3006761, highly similar to Voltage-gated potassium channel subunit beta-2.
U33429 - human K+ channel beta 2 subunit mRNA, complete cds.
HQ258222 - Synthetic construct Homo sapiens clone IMAGE:100072531 potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 1 (KCNAB2) gene, encodes complete protein.
KJ901882 - Synthetic construct Homo sapiens clone ccsbBroadEn_11276 KCNAB2 gene, encodes complete protein.
KJ897857 - Synthetic construct Homo sapiens clone ccsbBroadEn_07251 KCNAB2 gene, encodes complete protein.
AB384870 - Synthetic construct DNA, clone: pF1KB3870, Homo sapiens KCNAB2 gene for voltage-gated potassium channel subunit beta-2, complete cds, without stop codon, in Flexi system.
CR542287 - Homo sapiens full open reading frame cDNA clone RZPDo834B0227D for gene KCNAB2, potassium voltage-gated channel, shaker-related subfamily, beta member 2; complete cds, without stopcodon.
AF029749 - Homo sapiens potassium channel beta 2 subunit (HKvbeta2.1) mRNA, complete cds.
AF044253 - Homo sapiens potassium channel beta 2 subunit (HKvbeta2.2) mRNA, alternatively spliced, complete cds.
CR542264 - Homo sapiens full open reading frame cDNA clone RZPDo834G0126D for gene KCNAB2, potassium voltage-gated channel, shaker-related subfamily, beta member 2; complete cds, incl. stopcodon.
AK131252 - Homo sapiens cDNA FLJ16180 fis, clone BRHIP3000240, highly similar to Homo sapiens potassium channel beta 2 subunit (HKvbeta2.2) mRNA.
AK315858 - Homo sapiens cDNA, FLJ79507 complete cds, highly similar to Voltage-gated potassium channel subunitbeta-2.
DQ574586 - Homo sapiens piRNA piR-42698, complete sequence.
JD081806 - Sequence 62830 from Patent EP1572962.
JD311008 - Sequence 292032 from Patent EP1572962.
JD054013 - Sequence 35037 from Patent EP1572962.
JD208949 - Sequence 189973 from Patent EP1572962.
JD194587 - Sequence 175611 from Patent EP1572962.
JD544842 - Sequence 525866 from Patent EP1572962.
JD383802 - Sequence 364826 from Patent EP1572962.
JD522597 - Sequence 503621 from Patent EP1572962.
JD253001 - Sequence 234025 from Patent EP1572962.
JD183595 - Sequence 164619 from Patent EP1572962.
JD508643 - Sequence 489667 from Patent EP1572962.
JD415373 - Sequence 396397 from Patent EP1572962.
JD527790 - Sequence 508814 from Patent EP1572962.
JD508734 - Sequence 489758 from Patent EP1572962.
JD452395 - Sequence 433419 from Patent EP1572962.
JD474611 - Sequence 455635 from Patent EP1572962.
JD302048 - Sequence 283072 from Patent EP1572962.
JD397372 - Sequence 378396 from Patent EP1572962.
JD051217 - Sequence 32241 from Patent EP1572962.
JD318296 - Sequence 299320 from Patent EP1572962.
JD425510 - Sequence 406534 from Patent EP1572962.
JD368978 - Sequence 350002 from Patent EP1572962.
JD190403 - Sequence 171427 from Patent EP1572962.
JD214565 - Sequence 195589 from Patent EP1572962.
JD392807 - Sequence 373831 from Patent EP1572962.
JD037533 - Sequence 18557 from Patent EP1572962.
JD484079 - Sequence 465103 from Patent EP1572962.
JD389620 - Sequence 370644 from Patent EP1572962.
JD248780 - Sequence 229804 from Patent EP1572962.

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

Protein Q13303 (Reactome details) participates in the following event(s):

R-HSA-6799350 Exocytosis of specific granule membrane proteins
R-HSA-6798747 Exocytosis of tertiary granule membrane proteins
R-HSA-1296127 Activation of voltage gated Potassium channels
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-1296072 Voltage gated Potassium channels
R-HSA-168256 Immune System
R-HSA-1296071 Potassium Channels
R-HSA-112316 Neuronal System

-  Other Names for This Gene
  Alternate Gene Symbols: A0AVM9, A8K1A4, B0AZR7, ENST00000378083.1, ENST00000378083.2, ENST00000378083.3, ENST00000378083.4, ENST00000378083.5, ENST00000378083.6, ENST00000378083.7, KCAB2_HUMAN, KCNA2B, KCNK2, NM_001199862, O43659, Q13303, Q5TG82, Q5TG83, Q6ZNE4, Q99411, uc001aly.1, uc001aly.2, uc001aly.3, uc001aly.4
UCSC ID: ENST00000378083.8
RefSeq Accession: NM_001199862
Protein: Q13303 (aka KCAB2_HUMAN or KVB2_HUMAN)

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