Gene: KCNB1

Alternate names for this Gene: DEE26|DRK1|Kv2.1

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. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily. This member is a delayed rectifier potassium channel and its activity is modulated by some other family members.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.13

Description of this Gene: potassium voltage-gated channel subfamily B member 1

Type of Gene: protein-coding

Gene: LOC105372649

Alternate names for this Gene:

Gene Summary:

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Description of this Gene:

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rs1555889162 in KCNB1;LOC105372649 gene and Cerebellar Ataxia PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

rs237485 in KCNB1;LOC105372649 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs1555889103 in KCNB1;LOC105372649 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 PMID 25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 28806457 2017 Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

PMID 26503721 2015 A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

PMID 26477325 2015 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

rs1555889162 in KCNB1;LOC105372649 gene and Global developmental delay PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

rs237484 in KCNB1;LOC105372649 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs1555889162 in KCNB1;LOC105372649 gene and Low CSF 5-methyltetrahydrofolate PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

rs3787317 in KCNB1;LOC105372649 gene and Major Depressive Disorder PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs1555889162 in KCNB1;LOC105372649 gene and Seizures PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.