Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HCN1 (hyperpolarization activated cyclic nucleotide gated potassium channel 1)

Identity

Alias_namesBCNG1
hyperpolarization activated cyclic nucleotide-gated potassium channel 1
Alias_symbol (synonym)BCNG-1
HAC-2
Other aliasEIEE24
HGNC (Hugo) HCN1
LocusID (NCBI) 348980
Atlas_Id 40799
Location 5p12  [Link to chromosome band 5p12]
Location_base_pair Starts at 45254950 and ends at 45696118 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CREBBP (16p13.3) / HCN1 (5p12)HCN1 (5p12) / FUNDC2P2 (2p11.2)HCN1 (5p12) / HCN1 (5p12)
RICTOR (5p13.1) / HCN1 (5p12)CREBBP 16p13.3 / HCN1 5p12RICTOR 5p13.1 / HCN1 5p12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)HCN1   4845
Cards
Entrez_Gene (NCBI)HCN1  348980  hyperpolarization activated cyclic nucleotide gated potassium channel 1
AliasesBCNG-1; BCNG1; EIEE24; HAC-2
GeneCards (Weizmann)HCN1
Ensembl hg19 (Hinxton)ENSG00000164588 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164588 [Gene_View]  chr5:45254950-45696118 [Contig_View]  HCN1 [Vega]
ICGC DataPortalENSG00000164588
TCGA cBioPortalHCN1
AceView (NCBI)HCN1
Genatlas (Paris)HCN1
WikiGenes348980
SOURCE (Princeton)HCN1
Genetics Home Reference (NIH)HCN1
Genomic and cartography
GoldenPath hg38 (UCSC)HCN1  -     chr5:45254950-45696118 -  5p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HCN1  -     5p12   [Description]    (hg19-Feb_2009)
EnsemblHCN1 - 5p12 [CytoView hg19]  HCN1 - 5p12 [CytoView hg38]
Mapping of homologs : NCBIHCN1 [Mapview hg19]  HCN1 [Mapview hg38]
OMIM602780   615871   
Gene and transcription
Genbank (Entrez)AF064876 AF488549 AK094523 BC156454 BC172530
RefSeq transcript (Entrez)NM_021072
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HCN1
Cluster EST : UnigeneHs.353176 [ NCBI ]
CGAP (NCI)Hs.353176
Alternative Splicing GalleryENSG00000164588
Gene ExpressionHCN1 [ NCBI-GEO ]   HCN1 [ EBI - ARRAY_EXPRESS ]   HCN1 [ SEEK ]   HCN1 [ MEM ]
Gene Expression Viewer (FireBrowse)HCN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)348980
GTEX Portal (Tissue expression)HCN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60741   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60741  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60741
Splice isoforms : SwissVarO60741
PhosPhoSitePlusO60741
Domaine pattern : Prosite (Expaxy)CNMP_BINDING_1 (PS00888)    CNMP_BINDING_3 (PS50042)   
Domains : Interpro (EBI)cNMP-bd-like    cNMP-bd_CS    cNMP-bd_dom    Ion_trans_dom    Ion_trans_N    K/Na_HCN1    K_chnl_volt-dep_EAG/ELK/ERG    RmlC-like_jellyroll   
Domain families : Pfam (Sanger)cNMP_binding (PF00027)    Ion_trans (PF00520)    Ion_trans_N (PF08412)   
Domain families : Pfam (NCBI)pfam00027    pfam00520    pfam08412   
Domain families : Smart (EMBL)cNMP (SM00100)  
Conserved Domain (NCBI)HCN1
DMDM Disease mutations348980
Blocks (Seattle)HCN1
PDB (SRS)5U6O    5U6P   
PDB (PDBSum)5U6O    5U6P   
PDB (IMB)5U6O    5U6P   
PDB (RSDB)5U6O    5U6P   
Structural Biology KnowledgeBase5U6O    5U6P   
SCOP (Structural Classification of Proteins)5U6O    5U6P   
CATH (Classification of proteins structures)5U6O    5U6P   
SuperfamilyO60741
Human Protein AtlasENSG00000164588
Peptide AtlasO60741
HPRD09099
IPIIPI00031506   
Protein Interaction databases
DIP (DOE-UCLA)O60741
IntAct (EBI)O60741
FunCoupENSG00000164588
BioGRIDHCN1
STRING (EMBL)HCN1
ZODIACHCN1
Ontologies - Pathways
QuickGOO60741
Ontology : AmiGOintracellular cAMP activated cation channel activity  voltage-gated sodium channel activity  voltage-gated potassium channel activity  voltage-gated potassium channel activity  potassium channel activity  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  integral component of plasma membrane  voltage-gated cation channel activity  axon  dendrite  cAMP binding  cAMP binding  regulation of ion transmembrane transport  sodium ion transmembrane transport  regulation of membrane potential  identical protein binding  apical protein localization  retinal cone cell development  protein homotetramerization  regulation of postsynaptic membrane potential  cellular response to cAMP  cellular response to cAMP  cellular response to cAMP  potassium ion transmembrane transport  potassium ion transmembrane transport  HCN channel complex  
Ontology : EGO-EBIintracellular cAMP activated cation channel activity  voltage-gated sodium channel activity  voltage-gated potassium channel activity  voltage-gated potassium channel activity  potassium channel activity  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  integral component of plasma membrane  voltage-gated cation channel activity  axon  dendrite  cAMP binding  cAMP binding  regulation of ion transmembrane transport  sodium ion transmembrane transport  regulation of membrane potential  identical protein binding  apical protein localization  retinal cone cell development  protein homotetramerization  regulation of postsynaptic membrane potential  cellular response to cAMP  cellular response to cAMP  cellular response to cAMP  potassium ion transmembrane transport  potassium ion transmembrane transport  HCN channel complex  
NDEx NetworkHCN1
Atlas of Cancer Signalling NetworkHCN1
Wikipedia pathwaysHCN1
Orthology - Evolution
OrthoDB348980
GeneTree (enSembl)ENSG00000164588
Phylogenetic Trees/Animal Genes : TreeFamHCN1
HOVERGENO60741
HOGENOMO60741
Homologs : HomoloGeneHCN1
Homology/Alignments : Family Browser (UCSC)HCN1
Gene fusions - Rearrangements
Fusion : MitelmanCREBBP/HCN1 [16p13.3/5p12]  [t(5;16)(p12;p13)]  
Fusion : MitelmanHCN1/FUNDC2P2 [5p12/2p11.2]  [t(2;5)(p11;p12)]  
Fusion : MitelmanRICTOR/HCN1 [5p13.1/5p12]  [t(5;5)(p12;p13)]  
Fusion: TCGACREBBP 16p13.3 HCN1 5p12 LUSC
Fusion: TCGARICTOR 5p13.1 HCN1 5p12 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHCN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HCN1
dbVarHCN1
ClinVarHCN1
1000_GenomesHCN1 
Exome Variant ServerHCN1
ExAC (Exome Aggregation Consortium)HCN1 (select the gene name)
Genetic variants : HAPMAP348980
Genomic Variants (DGV)HCN1 [DGVbeta]
DECIPHERHCN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHCN1 
Mutations
ICGC Data PortalHCN1 
TCGA Data PortalHCN1 
Broad Tumor PortalHCN1
OASIS PortalHCN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHCN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHCN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HCN1
DgiDB (Drug Gene Interaction Database)HCN1
DoCM (Curated mutations)HCN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HCN1 (select a term)
intoGenHCN1
Cancer3DHCN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602780    615871   
Orphanet23427   
MedgenHCN1
Genetic Testing Registry HCN1
NextProtO60741 [Medical]
TSGene348980
GENETestsHCN1
Target ValidationHCN1
Huge Navigator HCN1 [HugePedia]
snp3D : Map Gene to Disease348980
BioCentury BCIQHCN1
ClinGenHCN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD348980
Chemical/Pharm GKB GenePA77
Clinical trialHCN1
Miscellaneous
canSAR (ICR)HCN1 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHCN1
EVEXHCN1
GoPubMedHCN1
iHOPHCN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:36:29 CEST 2017

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