GNB5 Chromosome 15
G protein subunit beta 5
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What This Gene Does
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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|G protein subunits beta"
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000069966
Associated Conditions (13)
Cardiovascular phenotype
GNB5-related disorder
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
LODDER-MERLA SYNDROME
TYPE 2
WITH DEVELOPMENTAL DELAY AND CARDIAC ARRHYTHMIA
Inborn genetic diseases
Global developmental delay
Delayed speech and language development
Attention deficit hyperactivity disorder
GNB5-reled disorder
Abnormality of the nervous system
Key Variants
RS1261069673
Likely pathogenic
Health Risk
RS1332666675
Likely pathogenic
Cardiovascular phenotype, Cardiovascular phenotype
Health Risk
RS2543008738
Likely pathogenic
GNB5-related disorder, GNB5-related disorder
Health Risk
RS773902879
Likely pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Health Risk
RS886041055
Likely pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, GNB5-related disorder, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Health Risk
RS1085307675
Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, LODDER-MERLA SYNDROME
Health Risk
RS1379641378
Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Health Risk
RS2033686347
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2034001586
Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Health Risk
RS2141181367
Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Health Risk
RS2543008806
Pathogenic
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Health Risk
RS761399728
Pathogenic
Global developmental delay, Delayed speech and language development, Attention deficit hyperactivity disorder
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1261069673 | Health Risk | Likely pathogenic | — |
| RS1332666675 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2543008738 | Health Risk | Likely pathogenic | GNB5-related disorder, GNB5-related disorder |
| RS773902879 | Health Risk | Likely pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS886041055 | Health Risk | Likely pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, GNB5-related disorder, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS1085307675 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, LODDER-MERLA SYNDROME |
| RS1379641378 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS2033686347 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2034001586 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS2141181367 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS2543008806 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS761399728 | Health Risk | Pathogenic | Global developmental delay, Delayed speech and language development, Attention deficit hyperactivity disorder |
| RS768022031 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, GNB5-related disorder, GNB5-reled disorder |
| RS886041054 | Health Risk | Pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS201041536 | Health Risk | Pathogenic/Likely pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS2141193854 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, Abnormality of the nervous system |
| RS749597091 | Health Risk | Pathogenic/Likely pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Inborn genetic diseases, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS755832695 | Health Risk | Pathogenic/Likely pathogenic | Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |