Gene: LOC105372649

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs1555889130 in LOC105372649;KCNB1 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 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.

PMID 25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.

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

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

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

rs6019826 in LOC105372649;KCNB1 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.

rs1555889114 in LOC105372649;KCNB1 gene and Muscle hypotonia PMID 27928161 2017 Novel KCNB1 mutation associated with non-syndromic intellectual disability.

PMID 27652284 2016 Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

PMID 25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.

PMID 7751950 1995 Differential spatiotemporal expression of K+ channel polypeptides in rat hippocampal neurons developing in situ and in vitro.

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

PMID 15950285 2005 Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability.

PMID 26648591 2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.