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HCN1 Gene

protein-coding   GIFtS: 65
GCID: GC05M045260

Hyperpolarization Activated Cyclic Nucleotide-Gated Potassium...


(Previous symbol: BCNG1)
  See HCN1-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
11 2
     HAC-22
BCNG11 2 3     Brain Cyclic Nucleotide Gated Channel 12
Brain Cyclic Nucleotide-Gated Channel 12 3     Potassium/Sodium Hyperpolarization-Activated Cyclic Nucleotide-Gated
Channel 12
BCNG-12 3     

External Ids:    HGNC: 48451   Entrez Gene: 3489802   Ensembl: ENSG000001645887   OMIM: 6027805   UniProtKB: O607413   

Export aliases for HCN1 gene to outside databases

Previous GC identifers: GC05U990009 GC05M046438 GC05M045262 GC05M045307 GC05M045297


(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 HCN1 Gene:
The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the
native pacemaker currents in heart and neurons. The encoded protein can homodimerize or heterodimerize with other
pore-forming subunits to form a potassium channel. This channel may act as a receptor for sour tastes. (provided
by RefSeq, Oct 2011)

GeneCards Summary for HCN1 Gene:
HCN1 (hyperpolarization activated cyclic nucleotide-gated potassium channel 1) is a protein-coding gene. Diseases associated with HCN1 include epileptic encephalopathy, early infantile, 24, and sick sinus syndrome. 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: HCN1_HUMAN, O60741
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). May mediate responses to sour
stimuli

Gene Wiki entry for HCN1 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_000005.9  NT_006576.17  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HCN1 gene promoter:
         STAT1   LHX3b/Lhx3b   AML1a   Pax-5   STAT1alpha   AREB6   FOXO4   STAT3   LHX3a/Lhx3a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCN1 promoter sequence
   Search Chromatin IP Primers for HCN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HCN1


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

Entrez Gene cytogenetic band: 5p12   Ensembl cytogenetic band:  5p12   HGNC cytogenetic band: 5p12

HCN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HCN1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M045260:  view genomic region     (about GC identifiers)

Start:
45,259,349 bp from pter      End:
45,696,253 bp from pter
Size:
436,905 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HCN1_HUMAN, O60741 (See protein sequence)
Recommended Name: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1  
Size: 890 amino acids; 98796 Da
Subunit: Homotetramer. Heterotetramer with HCN2. The potassium channel is composed of a homo- or heterotetrameric
complex of pore-forming subunits. Interacts with KCNE2. Interacts with the SH3 domain of CSK (By similarity)
Sequence caution: Sequence=AAC39759.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;

Explore the universe of human proteins at neXtProt for HCN1: NX_O60741

Explore proteomics data for HCN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn338
  • Modification sites at PhosphoSitePlus

  • See HCN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_066550.2  
    ENSEMBL proteins: 
     ENSP00000307342  
    Reactome Protein details: O60741

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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: HCN1
    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 O60741

    ProtoNet protein and cluster: O60741

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


    UniProtKB/Swiss-Prot: HCN1_HUMAN, O60741
    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 HCN1           About GenesLikeMe


    (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,
    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: HCN1_HUMAN, O60741
    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). May mediate responses to sour
    stimuli
    Enzyme regulation: Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding
    promotes tetramerization and formation of an active channel. Compared to other family members, cAMP has less
    stimulatory effect on HCN1 because part of the molecules already contain bound cAMP and form homotetramers when
    cAMP levels are low. Inhibited by Cs(1+), zatebradine, capsazepine and ZD7288

         Genatlas biochemistry entry for HCN1:
    hyperpolarization-activated and cyclic nucleotide gated potassium channel 1,containing a CCG repeat in
    5'utr,related to Eag and H-erg,expressed in brain,potentially modulating excitability in the brain and responding
    to regulation by cyclic nucleotides,playing a critical role in shaping the autonomous activity of single neurons
    and the periodicity of network oscillations

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005222intracellular cAMP activated cation channel activity ISS--
    GO:0005248voltage-gated sodium channel activity IMP--
    GO:0005249voltage-gated potassium channel activity ISS--
    GO:0005267potassium channel activity NAS9405696
         
    Find genes that share ontologies with HCN1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HCN1:
     Increased cell number in G1, s 

         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hcn1):
     behavior/neurological  cardiovascular system  craniofacial  integument  nervous system 
     no phenotypic analysis  normal  respiratory system  taste/olfaction 

    Find genes that share phenotypes with HCN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HCN1: Hcn1tm1.1Lex Hcn1tm2Kndl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HCN1
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    hsa-miR-15a hsa-miR-3616-5p hsa-miR-485-3p hsa-miR-200a hsa-let-7a-2* hsa-miR-30d hsa-miR-374c hsa-miR-141
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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
    HCN1_HUMAN, O60741: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane ISS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane NAS9405696
    GO:0030424axon IEA--

    Find genes that share ontologies with HCN1           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 HCN1 About    
    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 HCN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for HCN1
        Sperm Motility

    1 Reactome Pathway for HCN1
        HCN channels


        Pathway & Disease-focused RT2 Profiler PCR Array including HCN1: 
              Neuronal Ion Channels in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for HCN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for HCN1 (O607413 ENSP000003073424) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HCN4Q9Y3Q43, ENSP000002619174I2D: score=1 STRING: ENSP00000261917
    HCN2Q9UL513, ENSP000002512874I2D: score=3 STRING: ENSP00000251287
    HCN3Q9P1Z33, ENSP000003573424I2D: score=1 STRING: ENSP00000357342
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    POLR2FENSP000004038524STRING: ENSP00000403852
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0006813potassium ion transport NAS9405696
    GO:0007268synaptic transmission TAS--
    GO:0035725sodium ion transmembrane transport IMP--
    GO:0042391regulation of membrane potential IMP--

    Find genes that share ontologies with HCN1           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 HCN1

    2 HMDB Compounds for HCN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    SodiumSodium (see all 2)7440-23-5--

    5 IUPHAR Ligands for HCN1 (HCN1)    About this table
    LigandTypeActionAffinityPubmed IDs
    cilobradine
    Pore BlockerAntagonist5.916387796
    zatebradine
    Pore BlockerAntagonist5.716387796
    ivabradine
    Pore BlockerAntagonist5.616387796
    ZD7288
    Pore BlockerAntagonist4.616043489
    Cs+
    Pore BlockerAntagonist3.716043489



    (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 HCN1 gene: 
    NM_021072.3  

    Unigene Cluster for HCN1:

    Hyperpolarization activated cyclic nucleotide-gated potassium channel 1
    Hs.353176  [show with all ESTs]
    Unigene Representative Sequence: NM_021072
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000303230(uc003jok.3)
    miRNA
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    Additional mRNA sequence: 

    AF064876.1 AF488549.1 AK094523.1 BX537747.1 

    3 DOTS entries:

    DT.40229330  DT.208390  DT.97804453 

    24 AceView cDNA sequences:

    BM931647 BM674287 CR601376 BM682352 BQ184730 BX509817 BM675680 BM717819 
    BQ186189 AK094523 BX955363 AF064876 AW054787 BX395019 NM_021072 AF488549 
    BX490817 BV182724 BF671513 BX537747 BM715980 R51256 H45591 R51255 

    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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    HCN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTTTCAGT
    HCN1 Expression
    About this image


    HCN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    HCN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HCN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.353176

    UniProtKB/Swiss-Prot: HCN1_HUMAN, O60741
    Tissue specificity: Detected in brain, in particular in amygdala and hippocampus, while expression in caudate
    nucleus, corpus callosum, substantia nigra, subthalamic nucleus and thalamus is very low or not detectable.
    Detected at very low levels in muscle and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Array including HCN1: 
              Neuronal Ion Channels in human mouse rat

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    In Situ
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    (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 animals.

    Orthologs for HCN1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcn11 , 5 hyperpolarization-activated, cyclic nucleotide-gated more1, 5 89.03(n)1
    96.13(a)1
      13 (66.34 cM)5
    151651  NM_010408.31  NP_034538.21 
     1176024805 
    chicken
    (Gallus gallus)
    Aves HCN11 hyperpolarization activated cyclic nucleotide-gated more 82.25(n)
    90.51(a)
      431590  XM_429145.4  XP_429145.3 
    lizard
    (Anolis carolinensis)
    Reptilia HCN16
    hyperpolarization activated cyclic nucleotide-gate...
    86(a)
    1 ↔ 1
    2(5087844-5332446)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hcn11 hyperpolarization activated cyclic nucleotide-gated more 75.65(n)
    82.75(a)
      100490760  XM_002933031.2  XP_002933077.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003342971 potassium/sodium hyperpolarization-activated cyclic more 73.24(n)
    86.33(a)
      100334297  XM_005169434.1  XP_005169491.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ih6
    I[[h]] channel
    26(a)
    1 → many
    2R(10163809-10187349)


    ENSEMBL Gene Tree for HCN1 (if available)
    TreeFam Gene Tree for HCN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for HCN1 gene
    KCNH62  KCNH32  KCNH52  HCN32  HCN42  KCNH42  HCN22  CNGA12  
    CNGA22  KCNH22  KCNH72  CNGB12  CNGA42  CNGA32  CNGB32  KCNH82  
    KCNH12  
    4 SIMAP similar genes for HCN1 using alignment to 2 protein entries:     HCN1_HUMAN (see all proteins):
    HCN2    HCN3    HCN4    KCNH2

    Find genes that share paralogs with HCN1           About GenesLikeMe



    (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 HCN1 (see all 7631)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1884244681,2
    --45254638(+) AGCCAA/GTCGCA 1 -- ds50010--------
    rs1473291761,2
    C--45254641(+) CAATCA/GCAGGG 1 -- ds50010--------
    rs1487884861,2
    --45254692(+) ATGGGA/TGGGGA 1 -- ds50010--------
    rs1425234371,2
    --45254720(+) GCTGGC/TCACCC 1 -- ds50010--------
    rs1154345151,2
    F--45254727(+) ACCCCC/AAAGCC 1 -- ds50011Minor allele frequency- A:0.05WA 118
    rs1916531611,2
    --45254731(+) CCAAGA/CCAGCA 1 -- ds50010--------
    rs1505048771,2
    --45254746(+) CATCCC/TACTGG 1 -- ds50010--------
    rs1395372731,2
    --45254838(+) AACACC/GGCAAA 1 -- ds50010--------
    rs1166660321,2
    C,F--45254839(+) ACACCG/ACAAAG 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1839902451,2
    --45254848(+) AGGTCC/TGTGGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for HCN1 (45259349 - 45509349 bp, first 250kb of HCN1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HCN1 (see all 32):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1304648CNV Deletion17803354
    esv2730153CNV Deletion23290073
    esv1002793CNV Deletion20482838
    esv2665350CNV Deletion23128226
    esv2730154CNV Deletion23290073
    esv2395643CNV Deletion18987734
    esv2660982CNV Deletion23128226
    esv2512498CNV Deletion19546169
    esv2730152CNV Deletion23290073
    esv1553862CNV Insertion17803354

    Human Gene Mutation Database (HGMD): HCN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HCN1
    DNA2.0 Custom Variant and Variant Library Synthesis for HCN1

    (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: 602780    OMIM disorders: --

    2 diseases for HCN1:    
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    epileptic encephalopathy, early infantile, 24    sick sinus syndrome

    3 diseases from the University of Copenhagen DISEASES database for HCN1:
    Sick sinus syndrome     Childhood absence epilepsy     Idiopathic generalized epilepsy

    Find genes that share disorders with HCN1           About GenesLikeMe

    1 Novoseek inferred disease relationship for HCN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epilepsy 23.3 1 18070091 (1)

    Genetic Association Database (GAD): HCN1
    Human Genome Epidemiology (HuGE) Navigator: HCN1 (5 documents)

    Export disorders for HCN1 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 HCN1 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with HCN1)
        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. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PubMed id 18081024)1, 4, 9 Laurin N....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    4. Common genetic variants associated with breast cancer and mammographic density measures that predict disease. (PubMed id 20145138)1, 4 Odefrey F....Southey M.C. (Cancer Res. 2010)
    5. Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. (PubMed id 19232126)1, 4 Woolcott C.G....Kolonel L.N. (Breast Cancer Res. 2009)
    6. Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region. (PubMed id 18454440)1, 4 Laurin N....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    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. 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)
    9. Enhanced expression of a specific hyperpolarization-activated cyclic nucleotide-gated cation channel (HCN) in surviving dentate gyrus granule cells of human and experimental epileptic hippocampus. (PubMed id 12890777)1, 9 Bender R.A....Baram T.Z. (J. Neurosci. 2003)
    10. HCN1 channels: a new therapeutic target for depressive disorders? (PubMed id 23033536)1 Shah M.M. (Sci Signal 2012)

    (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: 348980 HGNC: 4845 AceView: HCN1 Ensembl:ENSG00000164588 euGenes: HUgn348980
    ECgene: HCN1 H-InvDB: HCN1

    (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)
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    NameDescription
    PharmGKB entry for HCN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HCN1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HCN1 gene:
    Search GeneIP for patents involving HCN1

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



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