GNB5 wt Allele

Preferred Label : GNB5 wt Allele;

NCIt synonyms : Guanine Nucleotide-Binding Protein, Beta Subunit 5L Gene; G Protein, Beta Subunit 5L Gene; HG2E; Heterotrimeric Guanine Nucleotide-Binding Protein 2E Gene; LADCI; LDMLS1; LDMLS2; Guanine Nucleotide-Binding Protein, Beta 5 Gene; Gbeta5 Gene; G Protein Subunit Beta 5 wt Allele; GB5; gbeta5; Guanine Nucleotide Binding Protein (G Protein), Beta 5 Gene; IDDCA;

NCIt definition : Human GNB5 wild-type allele is located in the vicinity of 15q21.2 and is approximately 76 kb in length. This allele, which encodes guanine nucleotide-binding protein subunit beta-5 protein, is involved in the downregulation of G protein-coupled receptor signaling. Mutation of the gene is associated with intellectual developmental disorder with cardiac arrhythmia (IDDCA) and language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia (LADCI); also known as Lodder-Merla syndrome types 1 and 2, respectively.;

NCI Metathesaurus CUI : CL1920868;

GenBank Accession Number : AF017656;

Details

Origin ID

C201696;

UMLS CUI

C5890908;

OMIM relation
- Guanine nucleotide-binding protein, beta-5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q21.2 [NCIt concept]
gene_is_element_in_pathway
- Chemokine Signaling Pathway [NCIt concept]
- Cone Cell Visual Signal Transduction Pathway [NCIt concept]
- Rod Cell Visual Signal Transduction Pathway [NCIt concept]
- Thromboxane A2 Receptor Family Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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