ADGRG1 adhesion G protein-coupled receptor G1

Gene ID: 9289, updated on 11-Apr-2024
Gene type: protein coding
Also known as: BFPP; BPPR; GPR56; TM7LN4; TM7XN1; CDCBM14B; CDCBM15A

Summary

This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Bilateral frontoparietal polymicrogyria MedGen: C1847352OMIM: 606854GeneReviews: Polymicrogyria Overview	See labs
Polymicrogyria, bilateral perisylvian, autosomal recessive MedGen: C3810405OMIM: 615752GeneReviews: Polymicrogyria Overview	See labs

Genomic context

Location:: 16q21

Sequence:: Chromosome: 16; NC_000016.10 (57619738..57665567)

Total number of exons:: 20

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 ADGRG1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
GPR56 @ LOVD
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

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.