Identity
HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
GB5,IDDCA,LADCI,gbeta5
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10681
MIM: 604447
HGNC: 4401
Ensembl: ENSG00000069966
Variants:
dbSNP: 10681
ClinVar: 10681
TCGA: ENSG00000069966
COSMIC: GNB5
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37994112 | 2024 | Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants. | 0 |
| 38354736 | 2024 | The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function. | 1 |
| 37994112 | 2024 | Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants. | 0 |
| 38354736 | 2024 | The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function. | 1 |
| 34793198 | 2022 | Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gβ5 signaling complex. | 14 |
| 34793198 | 2022 | Cryo-EM structure of human GPR158 receptor coupled to the RGS7-Gβ5 signaling complex. | 14 |
| 33172956 | 2021 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. | 3 |
| 34573334 | 2021 | Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. | 1 |
| 34815401 | 2021 | Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gβ5. | 8 |
| 33172956 | 2021 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. | 3 |
| 34573334 | 2021 | Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes. | 1 |
| 34815401 | 2021 | Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gβ5. | 8 |
| 32203251 | 2020 | IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations. | 2 |
| 32987464 | 2020 | [Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review]. | 2 |
| 32203251 | 2020 | IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations. | 2 |
Citation
Dessen P
GNB5 (G protein subunit beta 5)
Atlas Genet Cytogenet Oncol Haematol. 2006-10-01
Online version: http://atlasgeneticsoncology.org/gene/43288/gnb5
