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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KCNB2 Gene

protein-coding   GIFtS: 62
GCID: GC08P073499

Potassium Voltage-Gated Channel, Shab-Related Subfamily,...
  5 related diseases
at
MalaCards
 

Aliases
for KCNB2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
Potassium Voltage-Gated Channel, Shab-Related Subfamily, Member 21 2
Voltage-Gated Potassium Channel Subunit Kv2.22 3
KV2.22 5
Delayed Rectifier Potassium Channel Protein2
Potassium Channel Kv2.22
Potassium Voltage-Gated Channel Subfamily B Member 22

External Ids:    HGNC: 62321   Entrez Gene: 93122   Ensembl: ENSG000001826747   OMIM: 6077385   UniProtKB: Q929533   

Export aliases for KCNB2 gene to outside databases

Previous GC identifers: GC08P072532 GC08P073420 GC08P073172 GC08P073612 GC08P068946


Summaries
for KCNB2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
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, Shab-related subfamily, member 2) is a protein-coding gene. Diseases associated with KCNB2 include migraine, and crohn's disease, and among its related super-pathways are Potassium Channels and Transmission across Chemical Synapses. GO annotations related to this gene include delayed rectifier potassium channel activity. An important paralog of this gene is KCNF1.

UniProtKB/Swiss-Prot: KCNB2_HUMAN, Q92953
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

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 pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNB2 Gene


Genomic Views
for KCNB2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KCNB2 gene promoter:
         AhR   E2F-4   E2F-3a   E2F-5   GATA-3   E2F-2   RORalpha2   Arnt   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KCNB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for KCNB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNB2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q13.2   Ensembl cytogenetic band:  8q13.3   HGNC cytogenetic band: 8q13.2

KCNB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNB2 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P073499:  view genomic region     (about GC identifiers)

Start:
 73,449,626 bp from pter      End:
 73,850,584 bp from pter
Size:
 400,959 bases      Orientation:
 plus strand

Proteins
for KCNB2 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: KCNB2_HUMAN, Q92953 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily B member 2  
Size: 911 amino acids; 102563 Da
Subunit: Heteromultimer with KCNS1, KCNS2 and KCNS3 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAB08433.1; Type=Frameshift; Positions=768;
Secondary accessions: Q7Z7D0 Q9BXD3

Explore the universe of human proteins at neXtProt for KCNB2: NX_Q92953

Explore proteomics data for KCNB2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated (Potential)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92953

    • KCNB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KCNB2 Protein Expression
    REFSEQ proteins: NP_004761.2  
    ENSEMBL proteins: 
     ENSP00000430846  
    Reactome Protein details: Q92953
    Human Recombinant Protein Products for KCNB2: 
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    Cloud-Clone Corp. Proteins for KCNB2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----

    KCNB2 for ontologies           About GeneDecksing



    KCNB2 Antibody Products: 
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    Abcam antibodies for KCNB2
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    Cloud-Clone Corp. ELISAs for KCNB2 
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    Protein Domains /
    Families
    for KCNB2 gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    		 HGNC Gene Families: 
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv2.2 
    Voltage-gated potassium channels

    5/8 InterPro protein domains (see all 8):
     IPR005821 Ion_trans_dom
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR003973 K_chnl_volt-dep_Kv2
     IPR005826 K_chnl_volt-dep_Kv2.2

    Graphical View of Domain Structure for InterPro Entry Q92953

    ProtoNet protein and cluster: Q92953

    3 Blocks protein domains:
    IPB000210 BTB/POZ domain
    IPB003091 Potassium channel signature
    IPB005826 Kv2.2 voltage-gated K+ channel signature


    UniProtKB/Swiss-Prot: KCNB2_HUMAN, Q92953
    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
    Similarity: Belongs to the potassium channel family. B (Shab) (TC 1.A.1.2) subfamily. Kv2.2/KCNB2 sub-subfamily


    KCNB2 for domains           About GeneDecksing


    Function
    for KCNB2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNB2_HUMAN, Q92953
    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

         Genatlas biochemistry entry for KCNB2:
    potassium voltage-gated channel,Drosophila Shab-related subfamily,member 2,expressed in (canine) gastrointestinal
    smooth muscles

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity ----
    GO:0005251delayed rectifier potassium channel activity TAS9612272
    GO:0005515protein binding ----
         
    KCNB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Kcnb2):
     behavior/neurological 

    KCNB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Kcnb2tm1Lex for KCNB2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNB2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNB2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KCNB2 

    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate KCNB2 (see all 9):
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    SwitchGear 3'UTR luciferase reporter plasmid: KCNB2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Pathways & Interactions
    for KCNB2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KCNB2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Potassium Channels
    		Potassium Channels0.43
    		Potassium transporters: outward current0.42
    		Voltage gated Potassium channels0.43
    2Transmission across Chemical Synapses
    		Neuronal System0.67
    3Dopamine-DARPP32 Feedback onto cAMP Pathway
    		Dopamine-DARPP32 Feedback onto cAMP Pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KCNB2
        Potassium transporters- outward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNB2
        Dopamine-DARPP32 Feedback onto cAMP Pathway

    3        Reactome Pathways for KCNB2
        Potassium Channels
    Neuronal System
    Voltage gated Potassium channels



    KCNB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KCNB2

    2 Interacting proteins for KCNB2 (Q929533) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933I2D: score=1 
    KCNV1Q6PIU13I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport TAS9612272
    GO:0006940regulation of smooth muscle contraction TAS9612272
    GO:0007268synaptic transmission TAS--
    GO:0051260protein homooligomerization IEA--

    KCNB2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KCNB2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for KCNB2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]

    3 IUPHAR Ligands for KCNB2 (Kv2.2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    quinine
    		Pore BlockerNone4.99612272
    4-aminopyridine
    		Pore BlockerNone2.89612272
    tetraethylammonium
    		Pore BlockerNone2.69612272

    Search CenterWatch for drugs/clinical trials and news about KCNB2

    Transcripts
    for KCNB2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KCNB2 gene: 
    NM_004770.2  

    Unigene Cluster for KCNB2:

    Potassium voltage-gated channel, Shab-related subfamily, member 2
    Hs.661102  [show with all ESTs]
    Unigene Representative Sequence: AF338730
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000523207(uc003xzb.3)
    miRNA
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    hsa-miR-1206 hsa-miR-3140-3p hsa-miR-520d-5p hsa-miR-137 hsa-miR-491-3p hsa-miR-3658 hsa-miR-1208 hsa-miR-3143
    SwitchGear 3'UTR luciferase reporter plasmid: KCNB2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF338730.1 AF450111.1 AK311263.1 U69962.1 

    1 DOTS entry:

    DT.92033542 

    5 AceView cDNA sequences:

    AF338730 NM_004770 AF450111 U69962 CK004440 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for KCNB2    About this scheme

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


    ECgene alternative splicing isoforms for KCNB2

    Expression
    for KCNB2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KCNB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACAGTTTAG
    KCNB2 Expression
    About this image


    See KCNB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KCNB2

    SOURCE GeneReport for Unigene cluster: Hs.661102
        SABiosciences Expression via Pathway-Focused PCR Array including KCNB2: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    Orthologs
    for KCNB2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KCNB2 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Kcnb21 , 5 potassium voltage gated channel, Shab-related subfamily, more1, 5 87.06(n)1
    93.05(a)1    		   1 (4.50 cM)5
    987411  NM_001098528.21  NP_001091998.11 
     152872595 
    chicken
    (Gallus gallus)    		 Aves KCNB21 potassium voltage-gated channel, Shab-related subfamily, more 77.92(n)
    82.4(a)    		   431181  XM_003640825.1  XP_003640873.1 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    		 --
    		 82(a)
    81(a)
    		 possible ortholog
    possible ortholog
    		 4(146785839-146787137)
    4(33183548-33358294)
    African clawed frog
    (Xenopus laevis)    		 Amphibia kcnb2-B2 potassium voltage-gated channel, Shab-related subfamily, more 76.23(n)    U20342.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5668831 potassium voltage-gated channel subfamily B member more 64.74(n)
    69.94(a)    		   566883  XM_690167.3  XP_695259.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Shab3 potassium ion transport voltage-gated
    potassium more    		 68(a)     --


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

    Paralogs
    for KCNB2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KCNB2 gene
    KCNF12  KCNG32  KCNV12  KCNG22  KCNS22  KCNS32  KCNB12  KCNV22  
    KCNG42  KCNG12  KCNS12  
    18/23 SIMAP similar genes for KCNB2 using alignment to 1 protein entry:     KCNB2_HUMAN(see all similar genes):
    KCNB1    KCNS3    KCNS2    KCNF1    KCNG1    KCNG2
    KCNV1    KCNV2    KCND1    KCNG4    KCNS1    KCNA1
    KCNG3    KCNA10    KCNA2    KCNA4    KCNC1    KCNA5

    KCNB2 for paralogs           About GeneDecksing



    Genomic Variants
    for KCNB2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7585 SNPs in KCNB2 are shown (see all 7585)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0357744
    		A colorectal cancer sample4--see VAR_0357742 V I mis40--------
    rs2004723841,2
    		Cuntested173849507(+) CCAGGA/G/TACAGA 2 G syn10--------
    rs736860661,2
    		C--73447646(+) ACAACA/CACCAA 1 -- us2k12Minor allele frequency- C:0.05WA 120
    rs1122157651,2
    		F--73447650(+) CAACCA/CAAACA 1 -- us2k12Minor allele frequency- C:0.07CSA WA 119
    rs1146392541,2
    		C,F--73447661(+) AAACAA/GAAACC 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1876521101,2
    		--73447751(+) AGAGAA/GGATAG 1 -- us2k10--------
    rs1913610191,2
    		--73447804(+) ACATGA/GAGTAT 1 -- us2k10--------
    rs3493361,2
    		C,A--73448053(-) gtgatA/Gttccc 1 -- us2k10--------
    rs284070271,2
    		C--73448080(+) TGGGGC/TGGGGG 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs1435880361,2
    		--73448192(+) ACATGC/TACCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KCNB2 (73449626 - 73699626 bp, first 250kb of KCNB2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/35 variations for KCNB2 (see all 35):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2673987CNV Deletion23128226
    esv2737160CNV Deletion23290073
    nsv436585CNV Deletion17901297
    esv4538CNV Deletion18987735
    esv1664475CNV Deletion17803354
    dgv186e180CNV Deletion20482838
    esv2497261CNV Deletion19546169
    esv2272208CNV Deletion18987734
    esv2737154CNV Deletion23290073
    esv269210CNV Insertion20981092


    Human Gene Mutation Database (HGMD): KCNB2
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for KCNB2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 607738    OMIM disorders: --

    5 diseases for KCNB2:    About MalaCards
    migraine    crohn's disease    neuronitis    pancreatitis
    endotheliitis


    KCNB2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNB2
    Human Genome Epidemiology (HuGE) Navigator: KCNB2 (4 documents)

    Export disorders for KCNB2 gene to outside databases

    Publications
    for KCNB2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KCNB2 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with KCNB2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular identification of a component of delayed rectifier current in gastrointestinal smooth muscles. (PubMed id 9612272)1, 2, 3, 9 Schmalz F.... Horowitz B. (1998)
    2. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PubMed id 18676988)1, 4, 9 Nyholt D.R....Palotie A. (2008)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Common genetic variation and performance on standardi zed cognitive tests. (PubMed id 20125193)1, 4 Cirulli E.T....Goldstein D.B. (2010)
    5. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. (PubMed id 19010793)1, 4 Baranzini S.E....Oksenberg J.R. (2008)
    6. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)1, 4 Vasan R.S....Benjamin E.J. (2007)
    7. International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)
    8. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. (PubMed id 22412388)1 Kenny E.E....Peter I. (2012)
    9. Expression and function of K(V)2-containing channels i n human urinary bladder smooth muscle. (PubMed id 22422395)1 Hristov K.L....Petkov G.V. (2012)
    10. Mutation of histidine 105 in the t1 domain of the potassium channel kv2.1 disrupts heteromerization with kv6.3 and kv6.4. (PubMed id 19074135)1 Mederos Y Schnitzler M.... Preisig-Muller R. (2009)

    External Searches for KCNB2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
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    Genome Databases showing KCNB2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9312 HGNC: 6232 AceView: KCNB2 Ensembl:ENSG00000182674 euGenes: HUgn9312
    ECgene: KCNB2 H-InvDB: KCNB2

    Other Databases showing KCNB2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KCNB2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KCNB2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for KCNB2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KCNB2 gene:
    Search GeneIP for patents involving KCNB2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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