GNB2 Chromosome 7
G protein subunit beta 2
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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. This gene contains a trinucleotide (CCG) repeat length polymorphism in its 5' UTR. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"WD repeat domain containing|G protein subunits beta"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000172354
Associated Conditions (5)
Neurodevelopmental disorder with hypotonia and dysmorphic facies
GNB2-related disorder
Global developmental delay
Inborn genetic diseases
Sick sinus syndrome 4
Key Variants
RS147810006
Likely pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
Health Risk
RS1804373189
Likely pathogenic
GNB2-related disorder, Neurodevelopmental disorder with hypotonia and dysmorphic facies, Global developmental delay
Health Risk
RS2486197750
Likely pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies, Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and dysmorphic facies
Health Risk
RS2131350514
Pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
Health Risk
RS2131350517
Pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
Health Risk
RS777997121
Pathogenic
Health Risk
RS948934468
Pathogenic
Sick sinus syndrome 4, Sick sinus syndrome 4
Health Risk
RS1424516740
Pathogenic/Likely pathogenic
Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147810006 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies |
| RS1804373189 | Health Risk | Likely pathogenic | GNB2-related disorder, Neurodevelopmental disorder with hypotonia and dysmorphic facies, Global developmental delay |
| RS2486197750 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and dysmorphic facies, Inborn genetic diseases, Neurodevelopmental disorder with hypotonia and dysmorphic facies |
| RS2131350514 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies |
| RS2131350517 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies |
| RS777997121 | Health Risk | Pathogenic | — |
| RS948934468 | Health Risk | Pathogenic | Sick sinus syndrome 4, Sick sinus syndrome 4 |
| RS1424516740 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia and dysmorphic facies, Neurodevelopmental disorder with hypotonia and dysmorphic facies |