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

HCN2 Gene

protein-coding   GIFtS: 67
GCID: GC19P000589

Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium...


(Previous symbol: BCNG2)
  See related diseases
at  

(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
Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium Channel
21 2
     HAC-12
BCNG21 2 3 5     Brain Cyclic Nucleotide Gated Channel 22
Brain Cyclic Nucleotide-Gated Channel 22 3     Potassium/Sodium Hyperpolarization-Activated Cyclic Nucleotide-Gated
Channel 22
BCNG-22 3     

External Ids:    HGNC: 48461   Entrez Gene: 6102   Ensembl: ENSG000000998227   OMIM: 6027815   UniProtKB: Q9UL513   

Export aliases for HCN2 gene to outside databases

Previous GC identifers: GC19P000641 GC19P000529 GC19P000540 GC19P000359


(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 HCN2 Gene:
Hyperpolarization-activated cation channels of the HCN gene family, such as HCN2, contribute to spontaneous
rhythmic activity in both heart and brain.(supplied by OMIM, Jul 2010)

GeneCards Summary for HCN2 Gene: 
HCN2 (hyperpolarization activated cyclic nucleotide-gated potassium channel 2) is a protein-coding gene. Diseases associated with HCN2 include thyrotoxicosis, and status epilepticus, and among its related super-pathways are Transmission across Chemical Synapses and Voltage gated Potassium channels. GO annotations related to this gene include cAMP binding and voltage-gated potassium channel activity. An important paralog of this gene is KCNH6.

UniProtKB/Swiss-Prot: HCN2_HUMAN, Q9UL51
Function: Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions.
Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in
the distal nephron. Produces a large instantaneous current. Activated by cAMP. Modulated by intracellular
chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity)

Gene Wiki entry for HCN2 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_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HCN2 gene promoter:
         AP-1   NRSF form 1   AP-2alpha isoform 2   AP-2alpha   NRSF form 2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HCN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HCN2


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13

HCN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCN2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P000589:  view genomic region     (about GC identifiers)

Start:
589,893 bp from pter      End:
617,159 bp from pter
Size:
27,267 bases      Orientation:
plus strand

(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: HCN2_HUMAN, Q9UL51 (See protein sequence)
Recommended Name: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2  
Size: 889 amino acids; 96950 Da
Subunit: The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits.
Heteromultimer with HCN1. Forms an obligate 4:4 complex with accessory subunit PEX5L. Interacts with KCNE2 (By
similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Miscellaneous: Inhibited by extracellular cesium ions
1 PDB 3D structure from and Proteopedia for HCN2:
3U10 (3D)    
Secondary accessions: O60742 O60743 O75267 Q9UBS2

Explore the universe of human proteins at neXtProt for HCN2: NX_Q9UL51

Explore proteomics data for HCN2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Ser-668 by PRKG2 shifts the voltage-dependence to more negative voltages, hence counteracting
    the stimulatory effect of cGMP on gating (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UL51

  • HCN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HCN2 Protein Expression
    REFSEQ proteins: NP_001185.3  
    ENSEMBL proteins: 
     ENSP00000251287  
    Reactome Protein details: Q9UL51
    Human Recombinant Protein Products for HCN2: 
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    OriGene Protein Over-expression Lysate for HCN2
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    Novus Biologicals HCN2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HCN2 

    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 TAS9630217
    GO:0016020membrane ----

    HCN2 for ontologies           About GeneDecksing



    HCN2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for HCN2 

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    Cloud-Clone Corp. ELISAs for HCN2 
    Cloud-Clone Corp. CLIAs for HCN2


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: HCN2 
    Cyclic nucleotide-regulated channels

    5/7 InterPro protein domains (see all 7):
     IPR018488 cNMP-bd_CS
     IPR018490 cNMP-bd-like
     IPR005821 Ion_trans_dom
     IPR000595 cNMP-bd_dom
     IPR003938 K_chnl_volt-dep_EAG/ELK/ERG

    Graphical View of Domain Structure for InterPro Entry Q9UL51

    ProtoNet protein and cluster: Q9UL51

    2 Blocks protein domains:
    IPB000595 Cyclic nucleotide-binding domain
    IPB013621 Ion transport N-terminal


    UniProtKB/Swiss-Prot: HCN2_HUMAN, Q9UL51
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel HCN family
    Similarity: Contains 1 cyclic nucleotide-binding domain


    HCN2 for domains           About GeneDecksing


    (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: HCN2_HUMAN, Q9UL51
    Function: Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions.
    Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). Can also transport ammonium in
    the distal nephron. Produces a large instantaneous current. Activated by cAMP. Modulated by intracellular
    chloride ions and pH; acidic pH shifts the activation to more negative voltages (By similarity)

         Genatlas biochemistry entry for HCN2:
    hyperpolarization-activated and cyclic nucleotide gated potassium channel 2,expressed in brain and heart
    (conduction tissues and contractile myocytes),pace-maker channel of the heart

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005249voltage-gated potassium channel activity IBA--
    GO:0005261cation channel activity TAS10228147
    GO:0005272sodium channel activity IEA--
    GO:0005515protein binding ----
         
    HCN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HCN2:
     Upregulation of Wnt/beta-caten 

         8 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Hcn2):
     behavior/neurological  cardiovascular system  growth/size  hearing/vestibular/ear  integument 
     mortality/aging  nervous system  reproductive system 

    HCN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HCN2: Hcn2tm1.2Lex Hcn2tm1Lex Hcn2tm1Ldw

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HCN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HCN2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HCN2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HCN2 

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    hsa-mir-133a (MIRT001204), hsa-mir-1 (MIRT001205)

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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate HCN2 (see all 18):
    hsa-miR-137 hsa-miR-181c hsa-miR-25 hsa-miR-654-5p hsa-miR-4325 hsa-miR-92b hsa-miR-181b hsa-miR-92a
    SwitchGear 3'UTR luciferase reporter plasmidHCN2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCN2


    (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 HCN2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Transmission across Chemical Synapses
    Neuronal System0.67
    2Potassium Channels
    Potassium Channels0.43
    3Sweet Taste Signaling
    Sperm Motility0.37
    4Potassium transporters: inward current
    Potassium transporters: inward current
    5HCN channels
    HCN channels

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for HCN2
        Potassium transporters- inward current
    Sodium channels and transporters- inward current

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HCN2
        Sperm Motility

    3        Reactome Pathways for HCN2
        Potassium Channels
    HCN channels
    Neuronal System

    1 PharmGKB Pathway for HCN2
        Antiarrhythmic Pathway, Pharmacodynamics


    HCN2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HCN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for HCN2 (Q9UL513 ENSP000002512874) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCN1O607413, ENSP000003073424I2D: score=3 STRING: ENSP00000307342
    HCN4Q9Y3Q43, ENSP000002619174I2D: score=2 STRING: ENSP00000261917
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    SRCP129313, ENSP000003509414I2D: score=1 STRING: ENSP00000350941
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006812cation transport TAS10228147
    GO:0006936muscle contraction TAS10228147
    GO:0007267cell-cell signaling TAS9630217
    GO:0007268synaptic transmission TAS--

    HCN2 for ontologies           About GeneDecksing



    (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

    HCN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for HCN2

    3 HMDB Compounds for HCN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    SodiumSodium (see all 2)7440-23-5--

    2 DrugBank Compounds for HCN2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Cyclic Adenosine Monophosphate3'-5'-cyclic adenosine monophosphate (see all 5)60-92-4target--17139284 17016423 10592235
    Cyclic Guanosine Monophosphate-- 7665-99-8target--17139284 17016423 10592235

    5 IUPHAR Ligands for HCN2 (HCN2)    About this table 
    LigandTypeActionAffinityPubmed IDs
    cilobradine
    Pore BlockerAntagonist616387796
    zatebradine
    Pore BlockerAntagonist5.716387796
    ivabradine
    Pore BlockerAntagonist5.616387796
    ZD7288
    Pore BlockerAntagonist4.416043489
    Cs+
    Pore BlockerAntagonist3.716043489

    2 Novoseek inferred chemical compound relationships for HCN2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    potassium 33.9 2 15961404 (1), 16368742 (1)
    cysteine 9.79 1 16446506 (1)

    Search CenterWatch for drugs/clinical trials and news about HCN2

    (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 HCN2 gene: 
    NM_001194.3  

    Unigene Cluster for HCN2:

    Hyperpolarization activated cyclic nucleotide-gated potassium channel 2
    Hs.124161  [show with all ESTs]
    Unigene Representative Sequence: AJ012582
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000251287(uc002lpe.3)
    miRNA
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    Additional mRNA sequence: 

    AF064877.1 AF065164.2 AJ012582.1 BC039619.1 DQ854815.1 

    1 DOTS entry:

    DT.205481 

    24/38 AceView cDNA sequences (see all 38):

    BI490383 AF064851 CA488767 BF510959 BF057277 CK902965 BI490063 BI756607 
    AJ012582 BM929321 BV205340 BI752028 AI809833 AW073171 CB054838 BV205342 
    CA488537 BE546989 BC039619 NM_001194 AF065164 AI422949 AW452312 AF064877 

    GeneLoc Exon Structure


    (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

    HCN2 expression in normal human tissues (normalized intensities)      HCN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCATTGCGCT
    HCN2 Expression
    About this image


    HCN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             postcentral gyrus   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Heart (Cardiovascular System)

    See HCN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HCN2

    SOURCE GeneReport for Unigene cluster: Hs.124161

    UniProtKB/Swiss-Prot: HCN2_HUMAN, Q9UL51
    Tissue specificity: Highly expressed throughout the brain. Detected at low levels in heart

        SABiosciences Expression via Pathway-Focused PCR Array including HCN2: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCN2

    (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 eukaryotes.

    Orthologs for HCN2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcn21 , 5 hyperpolarization-activated, cyclic nucleotide-gated more1, 5 88.23(n)1
    95.22(a)1
      10 (39.72 cM)5
    151661  NM_008226.21  NP_032252.11 
     797166345 
    chicken
    (Gallus gallus)
    Aves LOC7703841 potassium/sodium hyperpolarization-activated cyclic more 80.16(n)
    83.19(a)
      770384  XM_003642867.1  XP_003642915.1 
    lizard
    (Anolis carolinensis)
    Reptilia HCN26
    Uncharacterized protein
    61(a)
    1 ↔ 1
    GL344297.1(1163-15587)
    zebrafish
    (Danio rerio)
    Actinopterygii hcn21 hyperpolarization activated cyclic nucleotide-gated more 70.01(n)
    77.23(a)
      557285  XM_680322.4  XP_685414.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ih3 intracellular cyclic nucleotide
    activated cation more
    53(a)     --
    wheat
    (Triticum aestivum)
    Liliopsida Ta.200112 Triticum aestivum clone wlmk4.pk0018.f9fis, full insert more 70.8(n)    BT009439.1 


    ENSEMBL Gene Tree for HCN2 (if available)
    TreeFam Gene Tree for HCN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HCN2 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  CNGA22  CNGA12  
    HCN12  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    3 SIMAP similar genes for HCN2 using alignment to 1 protein entry:     HCN2_HUMAN:
    HCN3    HCN1    HCN4

    HCN2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for HCN2
    PGOHUM00000246721 PGOHUM00000247045


    (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

    10/1028 SNPs in HCN2 are shown (see all 1028)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1813205461,2
    C--587908(+) AGCCGA/GGCGTG 1 -- us2k10--------
    rs1839925051,2
    --587911(+) CGAGCA/GTGGTG 1 -- us2k10--------
    rs357751771,2
    C--587919(-) GCGCCC/TGCCAC 1 -- us2k10--------
    rs341446391,2
    C--587923(-) ACAGGA/CGCCTG 1 -- us2k10--------
    rs1886719191,2
    --587924(+) AGGCGC/TCTGTA 1 -- us2k10--------
    rs110851291,2
    C,A,H--587964(+) agaatC/Tgctta 1 -- us2k10--------
    rs75077201,2
    C,A,H--587977(+) cccggG/Tagtcg 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs118828701,2
    C,F,H--588053(+) aactcA/Taaaat 1 -- us2k1 tfbs34Minor allele frequency- T:0.09NA WA 242
    rs72513011,2
    C,F--588196(+) CAGAGA/CCGTCG 1 -- us2k12Minor allele frequency- C:0.33CSA 3
    rs1479615391,2
    --588225(+) ACCCC-/GGAGCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for HCN2 (589893 - 617159 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/45 variations for HCN2 (see all 45):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717746CNV Deletion23290073
    dgv523e201CNV Deletion23290073
    esv2717749CNV Deletion23290073
    esv2717748CNV Deletion23290073
    esv3037CNV Deletion18987735
    esv2658944CNV Deletion23128226
    dgv524e201CNV Deletion23290073
    dgv525e201CNV Deletion23290073
    esv1739089CNV Insertion17803354
    nsv910175CNV Loss21882294


    Human Gene Mutation Database (HGMD): HCN2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HCN2
    DNA2.0 Custom Variant and Variant Library Synthesis for HCN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602781    OMIM disorders: --

    6 diseases for HCN2:    About MalaCards
    thyrotoxicosis    status epilepticus    idiopathic generalized epilepsy    febrile seizures
    thyroiditis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for HCN2:
    Sick sinus syndrome     Childhood absence epilepsy

    HCN2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HCN2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 24.8 5 20437590 (2)

    Genetic Association Database (GAD): HCN2
    Human Genome Epidemiology (HuGE) Navigator: HCN2 (6 documents)

    Export disorders for HCN2 gene to outside databases

    (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 HCN2 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with HCN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a gene encoding a hyperpolarization-activated 'pacemaker' channel of brain. (PubMed id 9630217)1, 2, 3 Santoro B.... Tibbs G.R. (1998)
    2. Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. (PubMed id 17931874)1, 4, 9 Tang B....Escayg A. (2008)
    3. Augmented currents of an HCN2 variant in patients wit h febrile seizure syndromes. (PubMed id 20437590)1, 4, 9 Dibbens L.M....Petrou S. (2010)
    4. Two pacemaker channels from human heart with profoundly different activation kinetics. (PubMed id 10228147)1, 2, 9 Ludwig A.... Biel M. (1999)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. [Association between familial febrile convulsions and HCN2 gene] (PubMed id 15932727)1, 4 Ma Y.N....Qi Y. (2005)
    7. International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. (PubMed id 16382102)1, 3 Hofmann F....Kaupp U.B. (2005)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    9. The human gene coding for HCN2, a pacemaker channel of the heart. (PubMed id 10524219)1, 2 Vaccari T....DiFrancesco D. (1999)
    10. Interactive cloning with the SH3 domain of N-src identifies a new brain specific ion channel protein, with homology to eag and cyclic nucleotide-gated channels. (PubMed id 9405696)1, 3 Santoro B....Kandel E.R. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 610 HGNC: 4846 AceView: HCN2 Ensembl:ENSG00000099822 euGenes: HUgn610
    ECgene: HCN2 H-InvDB: HCN2

    (According to HUGE)
    About This Section
      --

    (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 HCN2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HCN2 gene:
    Search GeneIP for patents involving HCN2

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



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