Gene: KCNH1
Alternate names for this Gene: EAG|EAG1|Kv10.1|TMBTS|ZLS1|h-eag|hEAG|hEAG1
Gene Summary: Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms.
Gene is located in Chromosome: 1
Location in Chromosome : 1q32.2
Description of this Gene: potassium voltage-gated channel subfamily H member 1
Type of Gene: protein-coding
rs11119608 in
KCNH1 gene and
Adenocarcinoma of large intestine
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Adenocarcinoma of lung (disorder)
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Breast Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Carcinoma of lung
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Colorectal Carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Colorectal Neoplasms
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1777242 in
KCNH1 gene and
Corpuscular Hemoglobin Concentration Mean
PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.
rs11119608 in
KCNH1 gene and
Endometrioid carcinoma ovary
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1501562 in
KCNH1 gene and
Leukemia, Myelocytic, Acute
PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.
rs11119608 in
KCNH1 gene and
Malignant neoplasm of large intestine
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Malignant tumor of colon
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1553344875 in
KCNH1 gene and
Muscle hypotonia
PMID 18203178 2008 A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
PMID 26264464 2015 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
PMID 25711872 2015 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
PMID 25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
PMID 9738473 1998 Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.
PMID 26818738 2016 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
PMID 23424202 2013 Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.
rs11119608 in
KCNH1 gene and
Ovarian Serous Adenocarcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs730882175 in
KCNH1 gene and
Overgrowth
PMID 25915598 2015 Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
PMID 25711872 2015 Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
PMID 18203178 2008 A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome).
PMID 23424202 2013 Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.
PMID 26818738 2016 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
PMID 9738473 1998 Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.
PMID 26264464 2015 'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
rs79589801 in
KCNH1 gene and
Progesterone measurement
PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.
rs11119608 in
KCNH1 gene and
Prostate carcinoma
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs11119608 in
KCNH1 gene and
Squamous cell carcinoma of lung
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
rs1553345948 in
KCNH1 gene and
Temple-Baraitser Syndrome
PMID 25420144 2015 Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
rs11119608 in
KCNH1 gene and
ovarian neoplasm
PMID 27197191 2016 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.