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Aliases for ADGRG1 Gene

Aliases for ADGRG1 Gene

  • Adhesion G Protein-Coupled Receptor G1 2 3 5
  • G Protein-Coupled Receptor 56 2 3
  • G-Protein Coupled Receptor 56 3 4
  • TM7LN4 3 4
  • TM7XN1 3 4
  • GPR56 3 4
  • 7-Transmembrane Protein With No EGF-Like N-Terminal Domains-1 3
  • Adhesion G-Protein Coupled Receptor G1 3
  • Testicular Tissue Protein Li 77 3
  • Protein TM7XN1 4
  • BFPP 3
  • BPPR 3

External Ids for ADGRG1 Gene

Previous HGNC Symbols for ADGRG1 Gene

  • GPR56

Summaries for ADGRG1 Gene

Entrez Gene Summary for ADGRG1 Gene

  • 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]

GeneCards Summary for ADGRG1 Gene

ADGRG1 (Adhesion G Protein-Coupled Receptor G1) is a Protein Coding gene. Diseases associated with ADGRG1 include Polymicrogyria, Bilateral Frontoparietal and Polymicrogyria, Bilateral Perisylvian. Among its related pathways are GPCRs, Other. GO annotations related to this gene include G-protein coupled receptor activity and collagen binding. An important paralog of this gene is ADGRG5.

UniProtKB/Swiss-Prot for ADGRG1 Gene

  • 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 GNA12 (PubMed:22238662). Plays a role in the maintenance of hematopoietic stem cells and/or leukemia stem cells in bone marrow niche (By similarity). Plays a critical role in cancer progression by inhibiting VEGFA production threreby inhibiting angiogenesis through a signaling pathway mediated by PRKCA (PubMed:16757564, PubMed:21724588). Plays an essential role in testis development (By similarity).

  • ADGRG1 N-terminal fragment: Plays a critical role in cancer progression by activating VEGFA production and angiogenesis through a signaling pathway mediated by PRKCA (PubMed:21724588).

Gene Wiki entry for ADGRG1 Gene

Additional gene information for ADGRG1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADGRG1 Gene

Genomics for ADGRG1 Gene

Regulatory Elements for ADGRG1 Gene

Enhancers for ADGRG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H057633 1.6 FANTOM5 Ensembl ENCODE dbSUPER 18.6 +26.1 26131 6 TBP MLX ARID4B DMAP1 BMI1 ZBTB40 RFX5 FOS CREM MIXL1 ADGRG1 ADGRG3 CCL17 PLLP CX3CL1 GC16M057629 GC16P057639
GH16H057617 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.9 +10.6 10606 8 PKNOX1 ZFP64 ARID4B SIN3A ELK1 FOS ATF7 SP5 MXD4 SMARCB1 ADGRG1 COQ9 FAM192A CIAPIN1 ENSG00000261633
GH16H057891 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +283.0 282972 3 PKNOX1 FOXA2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 RSPRY1 ADGRG3 CSNK2A2 SETD6 KIFC3 LOC388282 CNGB1 ADGRG1 CNOT1 CFAP20
GH16H057675 1.4 Ensembl ENCODE dbSUPER 11.5 +65.4 65414 0 TBP ATF1 YY1 TCF12 ATF7 CREM SMARCC1 CEBPB REST ZEB2 DRC7 ADGRG1 ENSG00000260467 ADGRG3
GH16H057576 1.3 Ensembl ENCODE dbSUPER 12.2 -34.0 -34017 0 CTCF RB1 ARID4B ZNF2 RAD21 RELA E2F1 CC2D1A CTBP1 POLR2A ADGRG1 CCDC102A GC16P057566 GC16P057594
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADGRG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADGRG1 Gene

Chromosome:
16
Start:
57,610,652 bp from pter
End:
57,665,580 bp from pter
Size:
54,929 bases
Orientation:
Plus strand

Genomic View for ADGRG1 Gene

Genes around ADGRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADGRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADGRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADGRG1 Gene

Proteins for ADGRG1 Gene

  • Protein details for ADGRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y653-AGRG1_HUMAN
    Recommended name:
    Adhesion G-protein coupled receptor G1
    Protein Accession:
    Q9Y653
    Secondary Accessions:
    • A6NIT7
    • A6NJV9
    • B0M0K4
    • B4DR54
    • O95966
    • Q6ZMP1
    • Q8NGB3
    • Q96HB4

    Protein attributes for ADGRG1 Gene

    Size:
    693 amino acids
    Molecular mass:
    77738 Da
    Quaternary structure:
    • Heterodimer of 2 chains generated by proteolytic processing; the large extracellular N-terminal fragment (ADGRG1 NT) and the membrane-bound C-terminal fragment (ADGRG1-CT) predominantly remain associated and non-covalently linked. ADGRG1 NT self-associates in a trans-trans manner; the homophilic interaction enhances receptor signaling. ADGRG1-CT interacts with ARRB2; the interaction is impaired by ADGRG1 NT. Interacts with TGM2; TGM2 probably is not a ADGRG1 ligand and the interaction is reported controversial (PubMed:16757564, PubMed:21349848). Part of a GPCR-tetraspanin complex at least consisting of ADGRG1, CD81, eventually CD9, and GNA11 in which CD81 is enhancing the association of ADGRG1 with GNA11. Interacts with heparin; leading to the reduction of ADGRG1 shedding (PubMed:27068534).

    Alternative splice isoforms for ADGRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADGRG1 Gene

Post-translational modifications for ADGRG1 Gene

  • Autoproteolytically cleaved into 2 fragments; the large extracellular N-terminal fragment (ADGRG1 NT) and the membrane-bound C-terminal fragment (ADGRG1 CT) predominantly remain associated and non-covalently linked. Shedding to yield the secreted ADGRG1 N-terminal fragment seems to involve metalloprotease(s) (PubMed:22333914).
  • N-glycosylated. Contains sialic acid residues.
  • Ubiquitinated. Undergoes polyubiquitination upon activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ADGRG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for ADGRG1

No data available for DME Specific Peptides for ADGRG1 Gene

Domains & Families for ADGRG1 Gene

Gene Families for ADGRG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • G-protein coupled receptors
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ADGRG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y653

UniProtKB/Swiss-Prot:

AGRG1_HUMAN :
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Family:
  • Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
genes like me logo Genes that share domains with ADGRG1: view

Function for ADGRG1 Gene

Molecular function for ADGRG1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
ADGRG1 NT is proposed to inhibit receptor signaling; its interactions with extracellular ligands and /or homophilic ADGRG1NT interactions may relieve the inhibition (PubMed:21708946, PubMed:24949629, PubMed:25918380). Following ligand binding to the N-terminal fragment, the N-terminal fragment is released from the seven-transmembrane C-terminal fragment to unveil a new N-terminal stalk, which then stimulates G-protein-dependent signaling activity (PubMed:25918380).
UniProtKB/Swiss-Prot 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 GNA12 (PubMed:22238662). Plays a role in the maintenance of hematopoietic stem cells and/or leukemia stem cells in bone marrow niche (By similarity). Plays a critical role in cancer progression by inhibiting VEGFA production threreby inhibiting angiogenesis through a signaling pathway mediated by PRKCA (PubMed:16757564, PubMed:21724588). Plays an essential role in testis development (By similarity).
UniProtKB/Swiss-Prot Function:
ADGRG1 N-terminal fragment: Plays a critical role in cancer progression by activating VEGFA production and angiogenesis through a signaling pathway mediated by PRKCA (PubMed:21724588).

Gene Ontology (GO) - Molecular Function for ADGRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IEA --
GO:0004888 transmembrane signaling receptor activity IEA --
GO:0004930 G-protein coupled receptor activity ISS,TAS --
GO:0005518 collagen binding ISS --
GO:0008201 heparin binding IEA,IDA 27068534
genes like me logo Genes that share ontologies with ADGRG1: view
genes like me logo Genes that share phenotypes with ADGRG1: view

Human Phenotype Ontology for ADGRG1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADGRG1 Gene

MGI Knock Outs for ADGRG1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADGRG1

CRISPR Products

miRNA for ADGRG1 Gene

miRTarBase miRNAs that target ADGRG1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADGRG1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ADGRG1 Gene

Localization for ADGRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADGRG1 Gene

Cell membrane; Multi-pass membrane protein.
ADGRG1 N-terminal fragment: Secreted.
ADGRG1 C-terminal fragment: Membrane raft. Note=Interaction with its ligand COL3A1 leads to the release of ADGRG1 NT from the membrane and triggers the association of ADGRG1 CT with lipid rafts. {ECO:0000269 PubMed:24949629}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADGRG1 gene
Compartment Confidence
plasma membrane 5
extracellular 5

Gene Ontology (GO) - Cellular Components for ADGRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 10049584
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADGRG1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADGRG1 Gene

Pathways & Interactions for ADGRG1 Gene

SuperPathways for ADGRG1 Gene

SuperPathway Contained pathways
1 GPCRs, Other
genes like me logo Genes that share pathways with ADGRG1: view

Pathways by source for ADGRG1 Gene

1 BioSystems pathway for ADGRG1 Gene

Interacting Proteins for ADGRG1 Gene

Selected Interacting proteins: Q9Y653-AGRG1_HUMAN for ADGRG1 Gene via IID

Gene Ontology (GO) - Biological Process for ADGRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IDA 21724588
GO:0007155 cell adhesion IDA,TAS 27068534
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS,IEA --
genes like me logo Genes that share ontologies with ADGRG1: view

No data available for SIGNOR curated interactions for ADGRG1 Gene

Drugs & Compounds for ADGRG1 Gene

No Compound Related Data Available

Transcripts for ADGRG1 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ADGRG1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ADGRG1 Gene

No ASD Table

Relevant External Links for ADGRG1 Gene

GeneLoc Exon Structure for
ADGRG1
ECgene alternative splicing isoforms for
ADGRG1

Expression for ADGRG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADGRG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADGRG1 Gene

This gene is overexpressed in Fetal Brain (16.5), Urine (12.1), and Breast (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ADGRG1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADGRG1 Gene:

ADGRG1

mRNA Expression by UniProt/SwissProt for ADGRG1 Gene:

Q9Y653-AGRG1_HUMAN
Tissue specificity: Widely distributed with highest levels found in thyroid gland, brain and heart. Expressed in a great number of tumor cells. Expression is down-regulated in different tumors from highly metastatic cells.

Evidence on tissue expression from TISSUES for ADGRG1 Gene

  • Nervous system(5)
  • Skin(4.1)
  • Thyroid gland(3.3)
  • Kidney(2.8)
  • Pancreas(2.5)
  • Intestine(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADGRG1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • neck
  • pharynx
  • tongue
Limb:
  • ankle
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ADGRG1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for ADGRG1 Gene

Orthologs for ADGRG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADGRG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPR56 33 34
  • 99.18 (n)
cow
(Bos Taurus)
Mammalia LOC509703 33
  • 89.11 (n)
-- 34
  • 88 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GPR56 33 34
  • 86.66 (n)
mouse
(Mus musculus)
Mammalia Gpr56 33 34
  • 81.64 (n)
Adgrg1 16
rat
(Rattus norvegicus)
Mammalia Gpr56 33
  • 81.34 (n)
oppossum
(Monodelphis domestica)
Mammalia GPR56 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GPR56 34
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves GPR56 33 34
  • 59.82 (n)
lizard
(Anolis carolinensis)
Reptilia GPR56 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpr56 33
  • 50.12 (n)
zebrafish
(Danio rerio)
Actinopterygii gpr56 34
  • 24 (a)
OneToMany
Species where no ortholog for ADGRG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADGRG1 Gene

ENSEMBL:
Gene Tree for ADGRG1 (if available)
TreeFam:
Gene Tree for ADGRG1 (if available)

Paralogs for ADGRG1 Gene

Paralogs for ADGRG1 Gene

genes like me logo Genes that share paralogs with ADGRG1: view

Variants for ADGRG1 Gene

Sequence variations from dbSNP and Humsavar for ADGRG1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121908462 Pathogenic, Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] 57,651,247(+) GCCAG(C/T)GGAAC reference, missense, splice-donor-variant, utr-variant-5-prime
rs121908463 Pathogenic, Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] 57,656,244(+) TGCAA(A/T)GTGTG reference, missense
rs121908464 Pathogenic, Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] 57,661,707(+) GGATC(C/T)GGGAC reference, missense
rs121908465 Pathogenic, Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] 57,651,407(+) CTTCT(C/G)CCTCT intron-variant, reference, missense, utr-variant-5-prime
rs121908466 Pathogenic, Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854] 57,651,398(+) CCTCT(A/G)CCACT intron-variant, reference, missense, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for ADGRG1 Gene

Variant ID Type Subtype PubMed ID
esv2714530 CNV deletion 23290073
esv2714531 CNV deletion 23290073
esv2714532 CNV deletion 23290073
esv3302763 CNV tandem duplication 20981092
esv3368849 CNV duplication 20981092
esv3553481 CNV deletion 23714750
nsv1065634 CNV gain 25217958
nsv1134553 CNV deletion 24896259
nsv833246 CNV loss 17160897
nsv952037 CNV deletion 24416366

Variation tolerance for ADGRG1 Gene

Residual Variation Intolerance Score: 13.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.79; 73.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADGRG1 Gene

Human Gene Mutation Database (HGMD)
ADGRG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADGRG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADGRG1 Gene

Disorders for ADGRG1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ADGRG1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polymicrogyria, bilateral frontoparietal
  • bilateral frontoparietal polymicrogyria
polymicrogyria, bilateral perisylvian
  • bilateral perisylvian polymicrogyria
polymicrogyria
  • pmg
lennox-gastaut syndrome
  • lennox syndrome
neuronal migration disorders
  • abnormality of neuronal migration
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

AGRG1_HUMAN
  • Polymicrogyria, bilateral frontoparietal (BFPP) [MIM:606854]: A malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination, most severe in the frontoparietal regions. BFPP clinical manifestations include developmental and psychomotor delay, cerebellar and pyramidal signs, truncal ataxia, seizures, hyperreflexia. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. {ECO:0000269 PubMed:15044805, ECO:0000269 PubMed:16240336, ECO:0000269 PubMed:21349848, ECO:0000269 PubMed:21723461, ECO:0000269 PubMed:22238662, ECO:0000269 PubMed:24949629}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Polymicrogyria, bilateral perisylvian, autosomal recessive (BPPR) [MIM:615752]: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. BPPR is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability. Polymicrogyria is a heterogeneous disorder, considered to be the result of post-migratory abnormal cortical organization. {ECO:0000269 PubMed:24531968}. Note=The disease is caused by mutations affecting the gene represented in this entry. Homozygous deletion of 1 of 2 tandem 15-bp repeats located 144 bp upstream of the ADGRG1 non-coding exon 1m transcription start site, results in impaired perisylvian ADGRG1 expression and disruption of perisylvian gyri (PubMed:24531968). {ECO:0000269 PubMed:24531968}.

Relevant External Links for ADGRG1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADGRG1
genes like me logo Genes that share disorders with ADGRG1: view

No data available for Genatlas for ADGRG1 Gene

Publications for ADGRG1 Gene

  1. Dynamic regulation of a GPCR-tetraspanin-G protein complex on intact cells: central role of CD81 in facilitating GPR56-Galpha q/11 association. (PMID: 15004227) Little KD … Stipp CS (Molecular biology of the cell 2004) 3 4 22 60
  2. TM7XN1, a novel human EGF-TM7-like cDNA, detected with mRNA differential display using human melanoma cell lines with different metastatic potential. (PMID: 10100861) Zendman AJ … van Muijen GN (FEBS letters 1999) 2 3 4 60
  3. GPR56, a novel secretin-like human G-protein-coupled receptor gene. (PMID: 10049584) Liu M … Herzog H (Genomics 1999) 2 3 4 60
  4. Heparin interacts with the adhesion GPCR GPR56, reduces receptor shedding, and promotes cell adhesion and motility. (PMID: 27068534) Chiang NY … Lin HH (Journal of cell science 2016) 3 4 60
  5. International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors. (PMID: 25713288) Hamann J … Schiöth HB (Pharmacological reviews 2015) 2 3 60

Products for ADGRG1 Gene

Sources for ADGRG1 Gene

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