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Aliases for KCNB2 Gene

Aliases for KCNB2 Gene

  • Potassium Voltage-Gated Channel Subfamily B Member 2 2 3
  • Potassium Channel, Voltage Gated Shab Related Subfamily B, Member 2 3 5
  • Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 2 2 3
  • Voltage-Gated Potassium Channel Subunit Kv2.2 3 4
  • Delayed Rectifier Potassium Channel Protein 3
  • Potassium Channel Kv2.2 3
  • KV2.2 3

External Ids for KCNB2 Gene

Previous GeneCards Identifiers for KCNB2 Gene

  • GC08P073420
  • GC08P073172
  • GC08P073499
  • GC08P073612
  • GC08P068946

Summaries for KCNB2 Gene

Entrez Gene Summary for KCNB2 Gene

  • 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]

GeneCards Summary for KCNB2 Gene

KCNB2 (Potassium Voltage-Gated Channel Subfamily B Member 2) is a Protein Coding gene. Diseases associated with KCNB2 include brugada syndrome. Among its related pathways are Transmission across Chemical Synapses and Potassium Channels. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNB1.

UniProtKB/Swiss-Prot for KCNB2 Gene

  • Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells.

Tocris Summary for KCNB2 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNB2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNB2 Gene

Genomics for KCNB2 Gene

Regulatory Elements for KCNB2 Gene

Promoters for KCNB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around KCNB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNB2 Gene

Chromosome:
8
Start:
72,537,391 bp from pter
End:
72,938,349 bp from pter
Size:
400,959 bases
Orientation:
Plus strand

Genomic View for KCNB2 Gene

Genes around KCNB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNB2 Gene

Proteins for KCNB2 Gene

  • Protein details for KCNB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92953-KCNB2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily B member 2
    Protein Accession:
    Q92953
    Secondary Accessions:
    • Q7Z7D0
    • Q9BXD3

    Protein attributes for KCNB2 Gene

    Size:
    911 amino acids
    Molecular mass:
    102563 Da
    Quaternary structure:
    • Homotetramer or heterotetramer with KCNB1. Heterotetramer with KCNS1 and KCNS2.
    SequenceCaution:
    • Sequence=AAB08433.1; Type=Frameshift; Positions=768; Evidence={ECO:0000305};

neXtProt entry for KCNB2 Gene

Proteomics data for KCNB2 Gene at MOPED

Post-translational modifications for KCNB2 Gene

Other Protein References for KCNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for KCNB2 (Potassium Channel Kv2.2)

No data available for DME Specific Peptides for KCNB2 Gene

Domains & Families for KCNB2 Gene

Gene Families for KCNB2 Gene

Suggested Antigen Peptide Sequences for KCNB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92953

UniProtKB/Swiss-Prot:

KCNB2_HUMAN :
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
  • Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.2/KCNB2 sub-subfamily.
Domain:
  • The transmembrane segment S4 functions as voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Channel opening and closing is effected by a conformation change that affects the position and orientation of the voltage-sensor paddle formed by S3 and S4 within the membrane. A transmembrane electric field that is positive inside would push the positively charged S4 segment outwards, thereby opening the pore, while a field that is negative inside would pull the S4 segment inwards and close the pore. Changes in the position and orientation of S4 are then transmitted to the activation gate formed by the inner helix bundle via the S4-S5 linker region.
Family:
  • Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.2/KCNB2 sub-subfamily.
genes like me logo Genes that share domains with KCNB2: view

Function for KCNB2 Gene

Molecular function for KCNB2 Gene

GENATLAS Biochemistry:
potassium voltage-gated channel,Drosophila Shab-related subfamily,member 2,expressed in (canine) gastrointestinal smooth muscles
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Homotetrameric channels expressed in xenopus oocytes or in mammalian non-neuronal cells display delayed-rectifier voltage- dependent potassium currents which are activated during membrane depolarization, i.e within a risetime of about 20 msec. After that, inactivate very slowly. Their activation requires low threshold potentials of about -20 to -30 mV, with a midpoint activation at about 10 mV. For inactivation, the voltage at half-maximal amplitude is about -30 mV. Channels have an unitary conductance of about 14 pS. The voltage-dependence of activation and inactivation and other channel characteristics vary depending on the experimental conditions, the expression system and post-translational modifications. {ECO:0000250 UniProtKB:Q63099, ECO:0000305 PubMed:10414301};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by quinine at micromolar levels. Modestly sensitive to millimolar levels of tetraethylammonium (TEA) and 4-aminopyridine (4-AP).
UniProtKB/Swiss-Prot Function:
Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and smooth muscle cells. Channels open or close in response to the voltage difference across the membrane, letting potassium ions pass in accordance with their electrochemical gradient. Homotetrameric channels mediate a delayed-rectifier voltage-dependent outward potassium current that display rapid activation and slow inactivation in response to membrane depolarization. Can form functional homotetrameric and heterotetrameric channels that contain variable proportions of KCNB1; channel properties depend on the type of alpha subunits that are part of the channel. Can also form functional heterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creating a functionally diverse range of channel complexes. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Contributes to the delayed-rectifier voltage-gated potassium current in cortical pyramidal neurons and smooth muscle cells.
genes like me logo Genes that share phenotypes with KCNB2: view

Animal Models for KCNB2 Gene

MGI Knock Outs for KCNB2:

Animal Model Products

miRNA for KCNB2 Gene

miRTarBase miRNAs that target KCNB2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KCNB2 Gene

Localization for KCNB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNB2 Gene

Cell membrane; Multi-pass membrane protein. Perikaryon. Cell projection, dendrite. Note=Localized uniformly throughout cell bodies and dendrites. Colocalizes with KCNB1 to high-density somatodendritic clusters on cortical pyramidal neurons. {ECO:0000250 UniProtKB:Q63099}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNB2 Gene COMPARTMENTS Subcellular localization image for KCNB2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular ISS --
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA,ISS --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with KCNB2: view

Pathways & Interactions for KCNB2 Gene

genes like me logo Genes that share pathways with KCNB2: view

Pathways by source for KCNB2 Gene

1 Qiagen pathway for KCNB2 Gene

Gene Ontology (GO) - Biological Process for KCNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006940 regulation of smooth muscle contraction TAS 9612272
GO:0072661 protein targeting to plasma membrane ISS --
genes like me logo Genes that share ontologies with KCNB2: view

No data available for SIGNOR curated interactions for KCNB2 Gene

Drugs & Compounds for KCNB2 Gene

(7) Drugs for KCNB2 Gene - From: DGIdb, Tocris, IUPHAR, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dalfampridine Approved Pharma Pore Blocker, Target, antagonist 62
Quinine Approved Pharma Pore Blocker, blocker 41
tetraethylammonium Experimental Pharma Inhibitor 1
fampridine Pharma 0
GXTX-1E Pharma 0

(4) Additional Compounds for KCNB2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4
genes like me logo Genes that share compounds with KCNB2: view

Transcripts for KCNB2 Gene

mRNA/cDNA for KCNB2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNB2 Gene

Potassium voltage-gated channel, Shab-related subfamily, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNB2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5
SP1:
SP2: - - -

Relevant External Links for KCNB2 Gene

GeneLoc Exon Structure for
KCNB2
ECgene alternative splicing isoforms for
KCNB2

Expression for KCNB2 Gene

mRNA expression in normal human tissues for KCNB2 Gene

mRNA differential expression in normal tissues according to GTEx for KCNB2 Gene

This gene is overexpressed in Brain - Cortex (x7.9), Brain - Frontal Cortex (BA9) (x7.6), Brain - Anterior cingulate cortex (BA24) (x6.4), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for KCNB2 Gene

This gene is overexpressed in Liver (64.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNB2 Gene



SOURCE GeneReport for Unigene cluster for KCNB2 Gene Hs.661102

genes like me logo Genes that share expression patterns with KCNB2: view

Protein tissue co-expression partners for KCNB2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for KCNB2 Gene

Orthologs for KCNB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNB2 36
  • 100 (a)
OneToOne
KCNB2 35
  • 99.63 (n)
  • 99.89 (a)
cow
(Bos Taurus)
Mammalia KCNB2 35
  • 86.07 (n)
  • 92.52 (a)
KCNB2 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNB2 36
  • 90 (a)
OneToOne
KCNB2 35
  • 83.58 (n)
  • 90.62 (a)
mouse
(Mus musculus)
Mammalia Kcnb2 16
Kcnb2 35
  • 87.06 (n)
  • 93.05 (a)
Kcnb2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNB2 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNB2 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnb2 35
  • 87.84 (n)
  • 93.72 (a)
chicken
(Gallus gallus)
Aves KCNB2 35
  • 77.92 (n)
  • 82.4 (a)
KCNB2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNB2 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia kcnb2-B 35
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnb2 35
  • 69.67 (n)
  • 76.4 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC566883 35
  • 64.89 (n)
  • 69.77 (a)
kcnb2 36
  • 65 (a)
OneToMany
KCNB2 (2 of 2) 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Shab 37
  • 68 (a)
Shab 36
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32C4.1 37
  • 34 (a)
exp-2 37
  • 38 (a)
F44A2.2 37
  • 34 (a)
Y48A6B.6 37
  • 37 (a)
Y55F3C.3 37
  • 31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14250 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 71 (a)
OneToMany
Species with no ortholog for KCNB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNB2 Gene

ENSEMBL:
Gene Tree for KCNB2 (if available)
TreeFam:
Gene Tree for KCNB2 (if available)

Paralogs for KCNB2 Gene

Paralogs for KCNB2 Gene

(23) SIMAP similar genes for KCNB2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNB2: view

Variants for KCNB2 Gene

Sequence variations from dbSNP and Humsavar for KCNB2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs16938507 - 72,937,325(+) CAGAG(A/G)GAAAG reference, missense
VAR_035774 A colorectal cancer sample
rs349335 -- 72,576,736(-) CCAGG(A/G)GACAC intron-variant
rs349336 -- 72,535,818(-) gtgat(A/G)ttccc upstream-variant-2KB
rs349346 -- 72,560,636(-) TATGA(C/T)GGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNB2 Gene

Variant ID Type Subtype PubMed ID
esv2737154 CNV Deletion 23290073
nsv891008 CNV Loss 21882294
nsv891009 CNV Loss 21882294
nsv6253 CNV Insertion 18451855
esv259960 OTHER Complex 20981092
nsv526000 CNV Gain 19592680
esv33951 CNV Gain 17666407
esv33601 CNV Gain 17666407
nsv527962 CNV Gain 19592680
nsv465714 CNV Gain 19166990
nsv438065 CNV Loss 16468122
nsv891010 CNV Gain 21882294
nsv465715 CNV Gain 19166990
esv2673987 CNV Deletion 23128226
esv269210 CNV Insertion 20981092
esv274654 CNV Insertion 20981092
esv259445 OTHER Complex 20981092
esv259684 OTHER Complex 20981092
esv1010570 CNV Insertion 20482838
esv1014824 CNV Insertion 17803354
nsv396083 CNV Insertion 16902084
nsv6255 CNV Loss 18451855
esv2497261 CNV Deletion 19546169
nsv436585 CNV Deletion 17901297
nsv512053 CNV Loss 21212237
esv2272208 CNV Deletion 18987734
dgv186e180 CNV Deletion 20482838
esv2737160 CNV Deletion 23290073
esv4538 CNV Deletion 18987735
nsv499484 CNV Loss 21111241
nsv398337 CNV Loss 16902084
esv1664475 CNV Deletion 17803354
nsv831354 CNV Gain 17160897
esv275110 CNV Gain+Loss 21479260
esv994308 CNV Loss 20482838

Variation tolerance for KCNB2 Gene

Residual Variation Intolerance Score: 6.26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNB2 Gene

HapMap Linkage Disequilibrium report
KCNB2
Human Gene Mutation Database (HGMD)
KCNB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNB2 Gene

Disorders for KCNB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KCNB2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
brugada syndrome
  • sudden unexpected nocturnal death syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KCNB2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KCNB2

Genetic Association Database (GAD)
KCNB2
Human Genome Epidemiology (HuGE) Navigator
KCNB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNB2
genes like me logo Genes that share disorders with KCNB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KCNB2 Gene

Publications for KCNB2 Gene

  1. Molecular identification of a component of delayed rectifier current in gastrointestinal smooth muscles. (PMID: 9612272) Schmalz F. … Horowitz B. (Am. J. Physiol. 1998) 2 3 4 23 67
  2. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt D.R. … Palotie A. (Hum. Mol. Genet. 2008) 3 23
  3. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  4. Disease-Targeted Sequencing of Ion Channel Genes identifies de novo mutations in Patients with Non-Familial Brugada Syndrome. (PMID: 25339316) Juang J.M. … Lin J.L. (Sci Rep 2014) 3
  5. Genome-wide association studies of maximum number of drinks. (PMID: 23953852) Pan Y. … Wang K.S. (J Psychiatr Res 2013) 3

Products for KCNB2 Gene

Sources for KCNB2 Gene

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