Gene: GNB1

Alternate names for this Gene: MRD42

Gene Summary: Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.33

Description of this Gene: G protein subunit beta 1

Type of Gene: protein-coding

rs4648729 in GNB1 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs9660180 in GNB1 gene and Body mass index PMID 25673413 2015 Genetic studies of body mass index yield new insights for obesity biology.

rs752746786 in GNB1 gene and Complex partial seizure with impairment of consciousness PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Cortical visual impairment PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Developmental regression PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs7546498 in GNB1 gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs752746786 in GNB1 gene and EEG with generalized epileptiform discharges PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Expressive language delay PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Feeding difficulties PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Global developmental delay PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Growth delay PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Infantile muscular hypotonia PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Limb hypertonia PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs1553194162 in GNB1 gene and MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 25485910 2015 Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

PMID 30194818 2018 Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

rs752746786 in GNB1 gene and Multifocal epileptiform discharges PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs1553194162 in GNB1 gene and Muscle hypotonia PMID 25485910 2015 Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

PMID 27668284 2016 Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.

PMID 28087732 2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.

PMID 10819326 2000 Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes.

rs752746786 in GNB1 gene and Nystagmus PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Pediatric failure to thrive PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs869312821 in GNB1 gene and Poor school performance PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Seizures PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs752746786 in GNB1 gene and Strabismus PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

rs7546498 in GNB1 gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs869312825 in GNB1 gene and Tonic - clonic seizures PMID 27108799 2016 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.