Gene: HCN1

Alternate names for this Gene: BCNG-1|BCNG1|DEE24|EIEE24|GEFSP10|HAC-2

Gene Summary: 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5p12

Description of this Gene: hyperpolarization activated cyclic nucleotide gated potassium channel 1

Type of Gene: protein-coding

rs139424826 in HCN1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs9292918 in HCN1 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs544994462 in HCN1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 PMID 24747641 2014 De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

PMID 30351409 2018 HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

rs1501357 in HCN1 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.