GNB5 G protein subunit beta 5

Gene ID: 10681, updated on 3-Apr-2024
Gene type: protein coding
Also known as: GB5; HG2E; IDDCA; LADCI; LDMLS1; LDMLS2; gbeta5

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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Gnb5-related intellectual disability-cardiac arrhythmia syndrome MedGen: C5568877OMIM: 617173GeneReviews: GNB5-Related Neurodevelopmental Disorder	See labs
Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia MedGen: C4310678OMIM: 617182GeneReviews: GNB5-Related Neurodevelopmental Disorder	See labs

Genomic context

Location:: 15q21.2

Sequence:: Chromosome: 15; NC_000015.10 (52115100..52191392, complement)

Total number of exons:: 15

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for GNB5 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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