GNB4 G protein subunit beta 4
Gene ID: 59345, updated on 10-Oct-2024Gene type: protein coding
Also known as: HG2B; CMTD1F
- See all available tests in GTR for this gene
- Go to complete Gene record for GNB4
- Go to Variation Viewer for GNB4 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease dominant intermediate F | See labs |
| Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. GeneReviews: Not available |
Genomic context
- Location:
- 3q26.33
- Sequence:
- Chromosome: 3; NC_000003.12 (179396088..179527798, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GNB4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GNB4 homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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