• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ADGRG1 (HGNC:4512) HGNC Entrez Ensembl OMIM Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
adhesion G protein-coupled receptor G1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GPR56
Alias symbols
TM7LN4, TM7XN1
%HI
82.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.89(Read more about gnomAD LOEUF score)
Cytoband
16q21
Genomic Coordinates
GRCh37/hg19: chr16:57653650-57699479 NCBI Ensembl UCSC
GRCh38/hg38: chr16:57619738-57665567 NCBI Ensembl UCSC
MANE Select Transcript
NM_201525.4 ENST00000562631.7 (Read more about MANE Select)
Function
Receptor involved in cell adhesion and probably in cell-cell interactions. Mediates cell matrix adhesion in developing neurons and hematopoietic stem cells. Receptor for collagen III/COL3A1 in the developing brain and involved in regulation of cortical development, specifically in maintenance of the pial basement membrane integrity and in cortical lamination (By similarity). Binding to the COL3A1 ligand inhibits neuronal migration and activates the RhoA pathway by coupling to GNA13 and possibly ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35852
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/17/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • bilateral frontoparietal polymicrogyria Monarch
HI Evidence Comments:
Loss-of-function mutations in GPR56 lead to bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive disorder affecting brain development [MIM:606854]. Heterozygous GPR56 mutations are not associated with any obvious disorder and the obligate carriers are healthy. Detailed molecular and functional analysis of the wild-type GPR56 and BFPP-associated point mutants shows that individual GPR56 mutants most likely cause BFPP via different combination of multiple mechanisms. These include reduced surface receptor expression, loss of GPS proteolysis, reduced receptor shedding, inability to interact with a novel protein ligand, and differential distribution of the 7TM moiety in lipid rafts (PMID: 2134984). Although GPR56 is expressed in a wide range of tissues, the consequences of loss-of-function mutations in the GPR56 gene have only been observed in the central nervous system (PMID: 20374731). PMID: 19807741: The authors describe a patient with neuroradiological features fulfilling the diagnostic criteria for BFPP, who was heterozygous for a de novo 12Mb deletion in chromosome region 16q12.1-q21, including the GPR56 gene. Sequencing of the GPR56 gene (i.e. intact allele) did not reveal any pathogenic sequence changes. This is the first large deletion described associated with BFPP; no other similar deletion or rearrangement is known in order to make a more precise genotype-phenotype correlation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No literature identified.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)