Gene Gene information from NCBI Gene database.
Entrez ID 57657
Gene name Hyperpolarization activated cyclic nucleotide gated potassium channel 3
Gene symbol HCN3
Synonyms (NCBI Gene)
-
Chromosome 1
Chromosome location 1q22
Summary This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding channel proteins. Alternative splicing results in multi
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT026503 hsa-miR-192-5p Microarray 19074876
MIRT1042136 hsa-miR-1205 CLIP-seq
MIRT1042137 hsa-miR-1260 CLIP-seq
MIRT1042138 hsa-miR-1260b CLIP-seq
MIRT1042139 hsa-miR-1297 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003254 Process Regulation of membrane depolarization IBA
GO:0003254 Process Regulation of membrane depolarization IDA 16043489
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005248 Function Voltage-gated sodium channel activity IDA 16043489
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609973 19183 ENSG00000143630
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P1Z3
Protein name Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3
Protein function Hyperpolarization-activated ion channel that are permeable to sodium and potassium ions, with an about 3:1 preference for potassium ions (PubMed:16043489). Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). In partic
PDB 8INZ , 8IO0 , 8IO3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08412 Ion_trans_N 49 92 Ion transport protein N-terminal Family
PF00520 Ion_trans 93 358 Ion transport protein Family
PF00027 cNMP_binding 446 529 Cyclic nucleotide-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in brain. {ECO:0000269|PubMed:16043489}.
Sequence
MEAEQRPAAGASEGATPGLEAVPPVAPPPATAASGPIPKSGPEPKRRHLGTLLQPTVNKF
SLRVFGSHKAVEIEQERVKSAGAWIIHPYSDF
RFYWDLIMLLLMVGNLIVLPVGITFFKE
ENSPPWIVFNVLSDTFFLLDLVLNFRTGIVVEEGAEILLAPRAIRTRYLRTWFLVDLISS
IPVDYIFLVVELEPRLDAEVYKTARALRIVRFTKILSLLRLLRLSRLIRYIHQWEEIFHM
TYDLASAVVRIFNLIGMMLLLCHWDGCLQFLVPMLQDFPPDCWVSINHMVNHSWGRQYSH
ALFKAMSHMLCIGYGQQAPVGMPDVWLTMLSMIVGATCYAMFIGHATALIQSLDSSRR
QY
QEKYKQVEQYMSFHKLPADTRQRIHEYYEHRYQGKMFDEESILGELSEPLREEIINFTCR
GLVAHMPLFAHADPSFVTAVLTKLRFEVFQPGDLVVREGSVGRKMYFIQHGLLSVLARGA
RDTRLTDGSYFGEICLLTRGRRTASVRADTYCRLYSLSVDHFNAVLEEF
PMMRRAFETVA
MDRLLRIGKKNSILQRKRSEPSPGSSGGIMEQHLVQHDRDMARGVRGRAPSTGAQLSGKP
VLWEPLVHAPLQAAAVTSNVAIALTHQRGPLPLSPDSPATLLARSAWRSAGSPASPLVPV
RAGPWASTSRLPAPPARTLHASLSRAGRSQVSLLGPPPGGGGRRLGPRGRPLSASQPSLP
QRATGDGSPGRKGSGSERLPPSGLLAKPPRTAQPPRPPVPEPATPRGLQLSANM
Sequence length 774
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  GnRH secretion   HCN channels
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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
DEFICIENCY OF PYRUVATE KINASE Disgenet
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 34841695 Stimulate
★☆☆☆☆
Found in Text Mining only
Hirschsprung Disease Hirschsprung disease Pubtator 25987789 Associate
★☆☆☆☆
Found in Text Mining only
Hydronephrosis Hydronephrosis BEFREE 29436516
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 27824082
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 27824082 Associate
★☆☆☆☆
Found in Text Mining only