Gene Gene information from NCBI Gene database.
Entrez ID 610
Gene name Hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2
Gene symbol HCN2
Synonyms (NCBI Gene)
BCNG-2BCNG2EIG17FEB2GEFSP11HAC-1
Chromosome 19
Chromosome location 19p13.3
Summary The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT001205 hsa-miR-1-3p Luciferase reporter assayWestern blot 19136465
MIRT001204 hsa-miR-133a-3p Luciferase reporter assayWestern blot 19136465
MIRT001205 hsa-miR-1-3p qRT-PCRLuciferase reporter assayWestern blot 18458081
MIRT001204 hsa-miR-133a-3p qRT-PCRLuciferase reporter assayWestern blot 18458081
MIRT001204 hsa-miR-133a-3p Luciferase reporter assay 18458081
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 19471099
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003254 Process Regulation of membrane depolarization IBA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005222 Function Intracellularly cAMP-activated cation channel activity IDA 10228147
GO:0005248 Function Voltage-gated sodium channel activity IMP 22748890
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602781 4846 ENSG00000099822
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UL51
Protein name Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 (Brain cyclic nucleotide-gated channel 2) (BCNG-2)
Protein function Hyperpolarization-activated ion channel that is permeable to sodium and potassium ions. Displays lower selectivity for K(+) over Na(+) ions (PubMed:10228147, PubMed:22006928). Contributes to the native pacemaker currents in heart (If) and in neu
PDB 2MPF , 3U10
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08412 Ion_trans_N 167 210 Ion transport protein N-terminal Family
PF00520 Ion_trans 211 474 Ion transport protein Family
PF00027 cNMP_binding 562 645 Cyclic nucleotide-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed throughout the brain. Detected at low levels in heart. {ECO:0000269|PubMed:10228147, ECO:0000269|PubMed:9630217}.
Sequence
MDARGGGGRPGESPGATPAPGPPPPPPPAPPQQQPPPPPPPAPPPGPGPAPPQHPPRAEA
LPPEAADEGGPRGRLRSRDSSCGRPGTPGAASTAKGSPNGECGRGEPQCSPAGPEGPARG
PKVSFSCRGAASGPAPGPGPAEEAGSEEAGPAGEPRGSQASFMQRQFGALLQPGVNKFSL
RMFGSQKAVEREQERVKSAGAWIIHPYSDF
RFYWDFTMLLFMVGNLIIIPVGITFFKDET
TAPWIVFNVVSDTFFLMDLVLNFRTGIVIEDNTEIILDPEKIKKKYLRTWFVVDFVSSIP
VDYIFLIVEKGIDSEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHMTYDL
ASAVMRICNLISMMLLLCHWDGCLQFLVPMLQDFPRNCWVSINGMVNHSWSELYSFALFK
AMSHMLCIGYGRQAPESMTDIWLTMLSMIVGATCYAMFIGHATALIQSLDSSRR
QYQEKY
KQVEQYMSFHKLPADFRQKIHDYYEHRYQGKMFDEDSILGELNGPLREEIVNFNCRKLVA
SMPLFANADPNFVTAMLTKLKFEVFQPGDYIIREGTIGKKMYFIQHGVVSVLTKGNKEMK
LSDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDNFNEVLEEY
PMMRRAFETVAIDRL
DRIGKKNSILLHKVQHDLNSGVFNNQENAIIQEIVKYDREMVQQAELGQRVGLFPPPPPP
PQVTSAIATLQQAAAMSFCPQVARPLVGPLALGSPRLVRRPPPGPAPAAASPGPPPPASP
PGAPASPRAPRTSPYGGLPAAPLAGPALPARRLSRASRPLSASQPSLPHGAPGPAASTRP
ASSSTPRLGPTPAARAAAPSPDRRDSASPGAAGGLDPQDSARSRLSSNL
Sequence length 889
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cAMP signaling pathway
GnRH secretion
  HCN channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Epilepsy, idiopathic generalized, susceptibility to, 17 Likely pathogenic; Pathogenic rs1983378020 RCV003992484
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Febrile seizures, familial, 2 Pathogenic rs1258293482 RCV001637971
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HCN2 related developmental and epileptic encephalopathy Likely pathogenic; Pathogenic rs2144522815, rs2512439870, rs2512449193, rs2512450547, rs756318406, rs2512454602, rs746133376, rs2512459304, rs2512452816, rs1983378020 RCV003772053
RCV003223347
RCV003223348
RCV003223349
RCV003223350
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay Likely pathogenic; Pathogenic rs2144522815 RCV003223427
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 27212063
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 27212063
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 21179275
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 21179275 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 26005035 Stimulate
★☆☆☆☆
Found in Text Mining only
Brain Ischemia Brain ischemia Pubtator 32519067 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34841695 Stimulate
★☆☆☆☆
Found in Text Mining only
Complete atrioventricular block Complete Atrioventricular Block BEFREE 17646577
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 18556018, 29807331
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 28666417 Associate
★☆☆☆☆
Found in Text Mining only