GNB1 Chromosome 1
G protein subunit beta 1
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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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"WD repeat domain containing|G protein subunits beta"
Locus Type
gene with protein product
Location
1p36.33
Ensembl
ENSG00000078369
Associated Conditions (32)
Acute lymphoid leukemia
Intellectual disability
autosomal dominant 42
Myelodysplastic syndrome
See cases
GNB1-related disorder
Autosomal dominant non-syndromic intellectual disability
Bilateral tonic-clonic seizure
Global developmental delay
Hypotonia
Seizure
Neurodevelopmental Disability
Inborn genetic diseases
Dystonic disorder
Atypical behavior
Autism spectrum disorder
Neurodevelopmental delay
Floppy infant
6 conditions
10 conditions
+12 more conditions
Key Variants
RS1231842600
Conflicting classifications of pathogenicity
Health Risk
RS1356733529
Conflicting classifications of pathogenicity
Acute lymphoid leukemia, Intellectual disability, autosomal dominant 42
Health Risk
RS1570674859
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 42, Intellectual disability
Health Risk
RS1646420881
Conflicting classifications of pathogenicity
Health Risk
RS1646670170
Conflicting classifications of pathogenicity
Intellectual disability, See cases, Intellectual disability
Health Risk
RS1646696544
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 42, Intellectual disability
Health Risk
RS2100546220
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 42, Intellectual disability
Health Risk
RS2100858748
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 42, GNB1-related disorder
Health Risk
RS2522751007
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 42, Intellectual disability
Health Risk
RS771603036
Conflicting classifications of pathogenicity
Health Risk
RS779612138
Conflicting classifications of pathogenicity
Intellectual disability, autosomal dominant 42, Intellectual disability
Health Risk
RS1064795844
Likely pathogenic
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522748497 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, autosomal dominant 42, Intellectual disability |
| RS752746786 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, 13 conditions, Intellectual disability |
| RS869312823 | Health Risk | Pathogenic/Likely pathogenic | 8 conditions, Intellectual disability, autosomal dominant 42 |
| RS869312824 | Health Risk | Pathogenic/Likely pathogenic | 14 conditions, Neurodevelopmental Disability, Seizure |