Gene: ADGRG1

Alternate names for this Gene: BFPP|BPPR|GPR56|TM7LN4|TM7XN1

Gene 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q21

Description of this Gene: adhesion G protein-coupled receptor G1

Type of Gene: protein-coding

rs142684762 in ADGRG1 gene and Dysmorphic features PMID 24531968 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

PMID 19016831 2009 Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

PMID 25607655 2015 The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.

PMID 25642806 2015 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

PMID 20929962 2010 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 21708946 2011 The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 23981349 2014 Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

PMID 12730993 2003 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

rs142684762 in ADGRG1 gene and Movement Disorders PMID 24531968 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 23981349 2014 Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

PMID 19016831 2009 Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

PMID 25642806 2015 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 20929962 2010 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

PMID 21708946 2011 The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity.

PMID 25607655 2015 The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.

PMID 12730993 2003 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

rs142684762 in ADGRG1 gene and Muscle hypotonia PMID 21708946 2011 The N terminus of the adhesion G protein-coupled receptor GPR56 controls receptor signaling activity.

PMID 24531968 2014 Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

PMID 25642806 2015 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.

PMID 25607655 2015 The adhesion G protein-coupled receptor GPR56 is a cell-autonomous regulator of oligodendrocyte development.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 23981349 2014 Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 20929962 2010 GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

PMID 19016831 2009 Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

PMID 12730993 2003 Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

rs121908462 in ADGRG1 gene and POLYMICROGYRIA, BILATERAL FRONTOPARIETAL PMID 22238662 2012 Disease-associated mutations prevent GPR56-collagen III interaction.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 24949629 2014 Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation.

PMID 21723461 2011 A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

PMID 15044805 2004 G protein-coupled receptor-dependent development of human frontal cortex.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

PMID 21723461 2011 Here we report a novel missense mutation of GPR56, E496K, identified in a consanguineous pedigree with bilateral frontoparietal polymicrogyria.

rs11859370 in ADGRG1 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.