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HCN2 Gene

protein-coding   GIFtS: 67
GCID: GC19P000589

Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium...


(Previous symbol: BCNG2)
  See HCN2-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 sick sinus syndrome. GO annotations related to this gene include voltage-gated potassium channel activity and cation 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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   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 Chromatin IP Primers for HCN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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.
Heterotetramer with HCN1. Forms an obligate 4:4 complex with accessory subunit PEX5L. Interacts with KCNE2 (By
similarity). Homotetramer
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: 

  • 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)1
  • Ubiquitination2 at Lys177
  • Glycosylation2 at Asn407
  • Modification sites at PhosphoSitePlus

  • See HCN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001185.3  
    ENSEMBL proteins: 
     ENSP00000251287  
    Reactome Protein details: Q9UL51

    HCN2 Human Recombinant Protein Products:

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

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

    Selected 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


    Find genes that share domains with HCN2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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. Modulated by intracellular chloride ions and pH;
    acidic pH shifts the activation to more negative voltages (By similarity)
    Enzyme regulation: Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding causes
    a conformation change that leads to the assembly of an active tetramer and channel opening. Channel activity is
    modulated by intracellular chloride ions and pH; acidic pH shifts the activation to more negative voltages

         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): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005222intracellular cAMP activated cation channel activity IDA10228147
    GO:0005248voltage-gated sodium channel activity IMP--
    GO:0005249voltage-gated potassium channel activity IMP--
    GO:0005261cation channel activity ----
         
    Find genes that share ontologies with HCN2           About GenesLikeMe


    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/body  hearing/vestibular/ear  integument 
     mortality/aging  nervous system  reproductive system 

    Find genes that share phenotypes with HCN2           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for HCN2

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    Block miRNA regulation of human, mouse, rat HCN2 using miScript Target Protectors
    Selected qRT-PCR 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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HCN2_HUMAN, Q9UL51: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol2
    cytoskeleton1
    extracellular1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA10228147
    GO:0008076voltage-gated potassium channel complex TAS9630217
    GO:0016020membrane ----

    Find genes that share ontologies with HCN2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HCN2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Sodium channels and transporters inward current
    Sodium channels and transporters inward current
    HCN channels0.00
    2Transmission across Chemical Synapses
    Neuronal System0.68
    3Potassium Channels
    Potassium Channels0.43
    4Sweet Taste Signaling
    Sperm Motility0.37
    5Potassium transporters inward current
    Potassium transporters inward current


    Find genes that share SuperPaths with HCN2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 Reactome Pathway for HCN2
        HCN channels

    1 PharmGKB Pathway for HCN2
        Antiarrhythmic Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Array including HCN2: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HCN2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for HCN2 (Q9UL511, 3 ENSP000002512874) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    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): Selected biological process terms (see all 11):    About this table

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

    Find genes that share ontologies with HCN2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with HCN2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    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
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    Additional mRNA sequence: 

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

    1 DOTS entry:

    DT.205481 

    Selected AceView cDNA sequences (see all 38):

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

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HCN2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             postcentral gyrus   
     
     Heart (Cardiovascular System)
    HCN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HCN2 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including HCN2: 
              Neuronal Ion Channels in human mouse rat

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    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HCN2 gene from Selected species (see all 14)    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 87.39(n)1
    93.6(a)1
      10 (39.72 cM)5
    151661  NM_008226.21  NP_032252.11 
     797166345 
    chicken
    (Gallus gallus)
    Aves HCN21 hyperpolarization activated cyclic nucleotide-gated more 84.59(n)
    89.97(a)
      770384  XM_003642867.2  XP_003642915.1 
    lizard
    (Anolis carolinensis)
    Reptilia HCN26
    hyperpolarization activated cyclic nucleotide-gate...
    63(a)
    1 ↔ 1
    GL344297.1(1163-15587)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hcn21 hyperpolarization activated cyclic nucleotide-gated more 76.49(n)
    88.24(a)
      100487897  XM_002939769.2  XP_002939815.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hcn2b1 hyperpolarization activated cyclic nucleotide-gated more 71.32(n)
    78.59(a)
      557285  XM_680322.5  XP_685414.3 
    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)
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    Paralogs for HCN2 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  CNGA12  CNGA22  
    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

    Find genes that share paralogs with HCN2           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HCN2 (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602781    OMIM disorders: --

    2 diseases for HCN2:    
    About MalaCards
    thyrotoxicosis    sick sinus syndrome

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

    Find genes that share disorders with HCN2           About GenesLikeMe

    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)
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    PubMed articles for HCN2 gene, integrated from 10 sources (see all 82):
    (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. (Cell 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. (Neurobiol. Dis. 2008)
    3. Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. (PubMed id 20437590)1, 4, 9 Dibbens L.M....Petrou S. (Ann. Neurol. 2010)
    4. Two pacemaker channels from human heart with profoundly different activation kinetics. (PubMed id 10228147)1, 2, 9 Ludwig A.... Biel M. (EMBO J. 1999)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. [Association between familial febrile convulsions and HCN2 gene]. (PubMed id 15932727)1, 4 Ma Y.N....Qi Y. (Zhonghua Yi Xue Za Zhi 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. (Pharmacol. Rev. 2005)
    8. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (Nature 2004)
    9. The human gene coding for HCN2, a pacemaker channel of the heart. (PubMed id 10524219)1, 2 Vaccari T....DiFrancesco D. (Biochim. Biophys. Acta 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. (Proc. Natl. Acad. Sci. U.S.A. 1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 610 HGNC: 4846 AceView: HCN2 Ensembl:ENSG00000099822 euGenes: HUgn610
    ECgene: HCN2 H-InvDB: HCN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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.)
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    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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