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KCNB2 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily B Member 2

GCID:
GC08P072532
GIFtS:
50
Genes Participants
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Aliases for KCNB2 Gene

Aliases for KCNB2 Gene

  • Potassium Voltage-Gated Channel Subfamily B Member 2 2 3 5
  • Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 2 2 3
  • Voltage-Gated Potassium Channel Subunit Kv2.2 3 4
  • Potassium Channel, Voltage Gated Shab Related Subfamily B, Member 2 3
  • 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. Gene Ontology (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

Additional gene information for KCNB2 Gene

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

Genomics for KCNB2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KCNB2 Gene

Promoters and enhancers for KCNB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08I072536 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 -0.2 -178 1 MXI1 KLF1 ZBTB6 MZF1 ZNF76 ZIC2 ZNF2 ZNF335 ZFHX2 GATA3 KCNB2 LOC105375897
GH08I072537 Enhancer 0.7 ENCODE 550.8 +0.6 610 0.2 ZBTB10 MXI1 MAZ ZNF189 MZF1 ZNF76 ZBTB8A ZIC2 ZNF335 GLIS2 KCNB2 GC08M072619
GH08I072538 Enhancer 0.6 ENCODE 550.8 +0.8 830 0.1 ZNF335 MXI1 ZNF76 ZNF600 ZBTB8A EZH2 ZBTB20 ZBTB17 KCNB2 GC08M072619
GH08I072693 Enhancer 0.2 FANTOM5 11.7 +155.8 155835 0.1 KCNB2 TERF1 LOC100419613 LOC101926908
GH08I072607 Enhancer 0.3 FANTOM5 7.7 +70.2 70162 0.4 EZH2 KCNB2 GC08M072619
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNB2 gene promoter:

Genomic Locations for KCNB2 Gene

Genomic Locations for KCNB2 Gene
chr8:72,537,391-72,938,349
(GRCh38/hg38)
Size:
400,959 bases
Orientation:
Plus strand
chr8:73,449,626-73,850,584
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for KCNB2 Gene

Proteins for KCNB2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for KCNB2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNB2 Gene

Other Protein References for KCNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNB2 Gene

Domains & Families for KCNB2 Gene

Gene Families for KCNB2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Predicted membrane proteins
  • Voltage-gated ion channels

Protein Domains for KCNB2 Gene

InterPro:
Blocks:
ProtoNet:

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

Products:

  1. Animal Model
  2. CRISPR
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  4. Inhibitory RNA
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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.

Phenotypes From GWAS Catalog for KCNB2 Gene

Gene Ontology (GO) - Molecular Function for KCNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IBA --
GO:0005251 delayed rectifier potassium channel activity TAS,ISS --
GO:0005267 potassium channel activity IEA --
GO:0046982 protein heterodimerization activity ISS --
genes like me logo Genes that share ontologies with KCNB2: view
genes like me logo Genes that share phenotypes with KCNB2: view

Animal Models for KCNB2 Gene

MGI Knock Outs for KCNB2:

Animal Model Products

CRISPR Products

miRNA for KCNB2 Gene

miRTarBase miRNAs that target KCNB2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNB2 gene
Compartment Confidence
plasma membrane 5
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Midbody (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KCNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IBA --
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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport TAS,ISS --
GO:0006940 regulation of smooth muscle contraction TAS 9612272
GO:0034765 regulation of ion transmembrane transport IEA --
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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
4-Aminopyridine Approved Pharma Pore Blocker, Target, antagonist potassium channel-blocking agent 73
Quinine Approved Pharma Pore Blocker, blocker 47
tetraethylammonium Experimental, Investigational Pharma Inhibitor 1
fampridine Pharma 0
GXTX-1E Pharma 0

(1) Additional Compounds for KCNB2 Gene - From:

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(4) Tocris Compounds for KCNB2 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNB2: view

Transcripts for KCNB2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KCNB2 Gene

(3) 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:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNB2 Gene

mRNA expression in normal human tissues for KCNB2 Gene
mRNA expression by BioGPS for KCNB2 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for KCNB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KCNB2 Gene:

KCNB2

SOURCE GeneReport for Unigene cluster for KCNB2 Gene:

Hs.661102

Evidence on tissue expression from TISSUES for KCNB2 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with KCNB2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.63 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNB2 34
  • 92 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Kcnb2 33
  • 87.84 (n)
mouse
(Mus musculus)
 Mammalia Kcnb2 33 16 34
  • 87.06 (n)
cow
(Bos Taurus)
 Mammalia KCNB2 33 34
  • 86.07 (n)
dog
(Canis familiaris)
 Mammalia KCNB2 33 34
  • 83.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNB2 34
  • 82 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNB2 33 34
  • 77.92 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNB2 34
  • 80 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnb2 33
  • 69.67 (n)
African clawed frog
(Xenopus laevis)
 Amphibia kcnb2-B 33
zebrafish
(Danio rerio)
 Actinopterygii KCNB2 (2 of 2) 34
  • 73 (a)
 OneToMany
kcnb2 34
  • 65 (a)
 OneToMany
LOC566883 33
  • 64.89 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Shab 35 34
  • 68 (a)
worm
(Caenorhabditis elegans)
 Secernentea exp-2 35
  • 38 (a)
Y48A6B.6 35
  • 37 (a)
C32C4.1 35
  • 34 (a)
F44A2.2 35
  • 34 (a)
Y55F3C.3 35
  • 31 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 71 (a)
 OneToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.14250 33
Species where no ortholog for KCNB2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs770305852 A colorectal cancer sample 72,936,703(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000003398 -- 72,727,347(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000039841 -- 72,546,860(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000045124 -- 72,849,442(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000056585 -- 72,611,192(+) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv12199n54 CNV gain 21841781
dgv12200n54 CNV gain 21841781
dgv186e180 CNV deletion 20482838
dgv2090e212 CNV gain 25503493
dgv3841n106 CNV deletion 24896259
dgv4171e59 CNV tandem duplication 20981092
dgv7239n100 CNV gain 25217958
esv1010570 CNV insertion 20482838
esv1014824 CNV insertion 17803354
esv1664475 CNV deletion 17803354
esv2272208 CNV deletion 18987734
esv2497261 CNV deletion 19546169
esv2673987 CNV deletion 23128226
esv2737154 CNV deletion 23290073
esv2737160 CNV deletion 23290073
esv275110 CNV gain+loss 21479260
esv2762750 CNV gain 21179565
esv3271718 CNV deletion 24192839
esv3302986 CNV tandem duplication 20981092
esv33601 CNV gain 17666407
esv33951 CNV gain 17666407
esv3421886 CNV insertion 20981092
esv3422015 CNV duplication 20981092
esv3422051 CNV insertion 20981092
esv3543649 CNV deletion 23714750
esv3617617 CNV gain 21293372
esv3617618 CNV loss 21293372
esv3617620 CNV loss 21293372
esv3617621 CNV gain 21293372
esv3617624 CNV loss 21293372
esv4538 CNV loss 18987735
esv994308 CNV loss 20482838
nsv1025110 CNV gain 25217958
nsv1075145 CNV deletion 25765185
nsv1075559 CNV deletion 25765185
nsv1119559 CNV insertion 24896259
nsv1125949 CNV tandem duplication 24896259
nsv1143210 CNV tandem duplication 24896259
nsv1147863 CNV deletion 26484159
nsv396083 CNV insertion 16902084
nsv398337 CNV deletion 16902084
nsv436585 CNV deletion 17901297
nsv438065 CNV loss 16468122
nsv465714 CNV gain 19166990
nsv465715 CNV gain 19166990
nsv472967 CNV novel sequence insertion 20440878
nsv499484 CNV loss 21111241
nsv512053 CNV loss 21212237
nsv526000 CNV gain 19592680
nsv527962 CNV gain 19592680
nsv611535 CNV gain 21841781
nsv611538 CNV gain 21841781
nsv6253 CNV insertion 18451855
nsv6255 CNV deletion 18451855
nsv831354 CNV gain 17160897
nsv951443 CNV duplication 24416366
nsv957666 CNV deletion 24416366

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)

Additional Variant Information for KCNB2 Gene

Human Gene Mutation Database (HGMD)
KCNB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • bangungut
- elite association - COSMIC cancer census association via MalaCards
Search KCNB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KCNB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The American journal of physiology 1998) 2 3 4 22 58
  2. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt DR … Palotie A (Human molecular genetics 2008) 3 22 44 58
  3. Common genetic variation and performance on standardized cognitive tests. (PMID: 20125193) Cirulli ET … Goldstein DB (European journal of human genetics : EJHG 2010) 3 44 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PMID: 19010793) Baranzini SE … Oksenberg JR (Human molecular genetics 2009) 3 44 58

Products for KCNB2 Gene

Sources for KCNB2 Gene

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