ADGRG1 |
- 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)