ADGRG1 wt Allele

Preferred Label : ADGRG1 wt Allele;

NCIt synonyms : GPR56; TM7XN1; TM7LN4; BFPP; DKFZp781L1398; UNQ540/PRO1083; Adhesion G Protein-Coupled Receptor G1 wt Allele; BPPR; G Protein-Coupled Receptor 56 Gene;

NCIt definition : Human ADGRG1 wild-type allele is located in the vicinity of 16q13 and is approximately 45 kb in length. This allele, which encodes adhesion G-protein coupled receptor G1 protein, plays a role in both cell-cell signaling and brain development. Mutation of the gene is associated with bilateral frontoparietal polymicrogyria.;

NCIt note : Expression of the GPR56 gene downregulates VEGF production in melanoma cells and inhibits melanoma angiogenesis and growth. (Cancer Res. 2011; 71: 5558-5568.); Expression is analyzed as part of the 17-gene leukemia stem cell scoring system (LSC17). (Nature. 2016; doi:10.1038/nature20598.);

GenBank Accession Number : AJ011001;

Details

Origin ID

C99658;

UMLS CUI

C3274854;

Automatic exact mappings (from CISMeF team)
- Adhesion g protein-coupled receptor g1 [OMIM gene]
- Polymicrogyria, bilateral frontoparietal [OMIM Phenotype]
- Polymicrogyria, bilateral perisylvian, autosomal recessive [OMIM Phenotype]
- adhesion G protein-coupled receptor G1 [ORDO Gene]
OMIM relation
- Adhesion g protein-coupled receptor g1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16q13 [NCIt concept]
gene_plays_role_in_process
- Cell-Cell Adhesion Process [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Intercellular Communication Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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