Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9289
Gene name	Adhesion G protein-coupled receptor G1
Gene symbol	ADGRG1
Synonyms (NCBI Gene)	BFPPBPPRCDCBM14BCDCBM15AGPR56TM7LN4TM7XN1
Chromosome	16
Chromosome location	16q21
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 progressi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs58068378	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, intron variant, coding sequence variant
rs112805221	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, intron variant, coding sequence variant
rs113358058	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs121908462	C>A,T	Pathogenic	Synonymous variant, intron variant, coding sequence variant, splice donor variant, missense variant, 5 prime UTR variant
rs121908463	T>A	Pathogenic	Coding sequence variant, missense variant
rs121908464	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121908465	G>C	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs121908466	A>G	Pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs138344683	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant
rs142684762	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs146278035	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, intron variant
rs151020094	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs200241873	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs368883473	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs532188689	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587776623	G>A,C	Pathogenic	Intron variant
rs587776624	G>C	Pathogenic	Splice acceptor variant
rs587776625	CAGGACC>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777312	CAACGGTTGCCAGGG>-,CAACGGTTGCCAGGGCAACGGTTGCCAGGG	Pathogenic	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs587783652	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs587783653	T>C	Pathogenic	Missense variant, coding sequence variant
rs587783654	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783655	T>G	Pathogenic	Stop gained, coding sequence variant
rs587783656	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs587783658	C>A,T	Pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant
rs587783660	G>A	Pathogenic	Splice donor variant, intron variant
rs727503955	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs762771228	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs763238723	T>A,C	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant, missense variant
rs768441855	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs780718243	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, 5 prime UTR variant, intron variant
rs786204777	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs797045600	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs797045602	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1047016803	C>T	Pathogenic	Intron variant, stop gained, 5 prime UTR variant, coding sequence variant
rs1057517949	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1367685651	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1567782714	C>T	Pathogenic	Coding sequence variant, stop gained
rs1567815105	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1597442680	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant

187

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miRTarBase ID	miRNA	Experiments	Reference
MIRT440534	hsa-miR-544a	HITS-CLIP	24374217
MIRT440534	hsa-miR-544a	HITS-CLIP	24374217
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	26701625
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	26701625
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	26701625
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	26701625
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	26701625
MIRT754982	hsa-miR-4537	PAR-CLIP	26701625
MIRT754982	hsa-miR-4537	PAR-CLIP	26701625
MIRT754982	hsa-miR-4537	PAR-CLIP	26701625
MIRT754985	hsa-miR-4765	PAR-CLIP	26701625
MIRT754985	hsa-miR-4765	PAR-CLIP	26701625
MIRT754985	hsa-miR-4765	PAR-CLIP	26701625
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	26701625
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	26701625
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	26701625
MIRT754986	hsa-miR-8077	PAR-CLIP	26701625
MIRT754986	hsa-miR-8077	PAR-CLIP	26701625
MIRT754986	hsa-miR-8077	PAR-CLIP	26701625
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	27292025
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	27292025
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	27292025
MIRT754982	hsa-miR-4537	PAR-CLIP	27292025
MIRT754985	hsa-miR-4765	PAR-CLIP	27292025
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	27292025
MIRT754986	hsa-miR-8077	PAR-CLIP	27292025
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741690	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741690	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741690	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741685	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741692	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT741678	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT741679	hsa-miR-8485	HITS-CLIP	23824327
MIRT741680	hsa-miR-6856-3p	HITS-CLIP	23824327
MIRT741681	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT741682	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT741683	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741684	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT741686	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT741687	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT741688	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT741689	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT741691	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT741693	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT741694	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT741695	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT741696	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT741697	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT754527	hsa-miR-1264	PAR-CLIP	22012620
MIRT754528	hsa-miR-6808-5p	PAR-CLIP	22012620
MIRT754529	hsa-miR-6893-5p	PAR-CLIP	22012620
MIRT754530	hsa-miR-940	PAR-CLIP	22012620
MIRT754531	hsa-miR-4514	PAR-CLIP	22012620
MIRT754532	hsa-miR-4692	PAR-CLIP	22012620
MIRT754533	hsa-miR-665	PAR-CLIP	22012620
MIRT754534	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT754535	hsa-miR-4673	PAR-CLIP	22012620
MIRT754536	hsa-miR-6840-3p	PAR-CLIP	22012620
MIRT754537	hsa-miR-1915-3p	PAR-CLIP	22012620
MIRT754538	hsa-miR-6764-5p	PAR-CLIP	22012620
MIRT754539	hsa-miR-4726-3p	PAR-CLIP	22012620
MIRT754540	hsa-miR-873-5p	PAR-CLIP	22012620
MIRT754541	hsa-miR-7977	PAR-CLIP	22012620
MIRT754976	hsa-miR-4753-5p	PAR-CLIP	23592263
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	23592263
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT754979	hsa-miR-3922-5p	PAR-CLIP	23592263
MIRT754980	hsa-miR-6814-5p	PAR-CLIP	23592263
MIRT754981	hsa-miR-6793-3p	PAR-CLIP	23592263
MIRT754982	hsa-miR-4537	PAR-CLIP	23592263
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT754985	hsa-miR-4765	PAR-CLIP	23592263
MIRT754986	hsa-miR-8077	PAR-CLIP	23592263
MIRT754977	hsa-miR-5588-3p	PAR-CLIP	23592263
MIRT754978	hsa-miR-2114-5p	PAR-CLIP	23592263
MIRT754982	hsa-miR-4537	PAR-CLIP	23592263
MIRT754983	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT754984	hsa-miR-1236-5p	PAR-CLIP	23592263
MIRT754985	hsa-miR-4765	PAR-CLIP	23592263
MIRT754986	hsa-miR-8077	PAR-CLIP	23592263

Show/Hide all (76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IDA	21724588
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA
GO:0004930	Function	G protein-coupled receptor activity	IDA	35418682, 39389061
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IMP	28424266
GO:0004930	Function	G protein-coupled receptor activity	ISS
GO:0004930	Function	G protein-coupled receptor activity	TAS	10049584, 15004227
GO:0005515	Function	Protein binding	IPI	28258187
GO:0005518	Function	Collagen binding	IEA
GO:0005518	Function	Collagen binding	ISS
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21349848, 28424266
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	28424266
GO:0005886	Component	Plasma membrane	TAS	10049584
GO:0007155	Process	Cell adhesion	IDA	15674329, 27068534
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10049584
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS	10049584, 15004227
GO:0007200	Process	Phospholipase C-activating G protein-coupled receptor signaling pathway	IDA	21724588
GO:0007266	Process	Rho protein signal transduction	IDA	26529257
GO:0007266	Process	Rho protein signal transduction	IDA	21708946
GO:0007266	Process	Rho protein signal transduction	IMP	23241886, 31570889
GO:0007267	Process	Cell-cell signaling	TAS	10049584
GO:0007399	Process	Nervous system development	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	15044805
GO:0008201	Function	Heparin binding	IBA
GO:0008201	Function	Heparin binding	IDA	27068534
GO:0008201	Function	Heparin binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	16757564
GO:0009967	Process	Positive regulation of signal transduction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	15004227
GO:0016477	Process	Cell migration	IDA	27068534
GO:0016477	Process	Cell migration	IEA
GO:0021796	Process	Cerebral cortex regionalization	IEA
GO:0021801	Process	Cerebral cortex radial glia-guided migration	IEA
GO:0021801	Process	Cerebral cortex radial glia-guided migration	ISS
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021819	Process	Layer formation in cerebral cortex	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	ISS
GO:0035295	Process	Tube development	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0045785	Process	Positive regulation of cell adhesion	IDA	21349848
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0050840	Function	Extracellular matrix binding	ISS
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061484	Process	Hematopoietic stem cell homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072520	Process	Seminiferous tubule development	IEA
GO:0090330	Process	Regulation of platelet aggregation	IDA	33097663
GO:0090330	Process	Regulation of platelet aggregation	IEA
GO:0097451	Component	Glial limiting end-foot	IEA
GO:0097451	Component	Glial limiting end-foot	ISS
GO:0110076	Process	Negative regulation of ferroptosis	IEA
GO:0110076	Process	Negative regulation of ferroptosis	ISS
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IDA	10199825, 11094164
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IDA	33097663, 35418682, 39389061
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IEA
GO:0160221	Process	Rho-activating G protein-coupled receptor signaling pathway	IMP	28424266
GO:1900748	Process	Positive regulation of vascular endothelial growth factor signaling pathway	IDA	21724588
GO:2000179	Process	Positive regulation of neural precursor cell proliferation	IEA
GO:2001223	Process	Negative regulation of neuron migration	IEA
GO:2001223	Process	Negative regulation of neuron migration	ISS

MIM	HGNC	e!Ensembl
604110	4512	ENSG00000205336

Q9Y653

Protein name

Adhesion G-protein coupled receptor G1 (G-protein coupled receptor 56) [Cleaved into: Adhesion G-protein coupled receptor G1, N-terminal fragment (ADGRG1 N-terminal fragment) (ADGRG1 NT) (GPR56 N-terminal fragment) (GPR56 NT) (GPR56(N)) (GPR56 extracellul

Protein function

Adhesion G-protein coupled receptor (aGPCR) for steroid hormone 17alpha-hydroxypregnenolone (17-OH), which is involved in cell adhesion and cell-cell interactions (PubMed:39389061). Ligand binding causes a conformation change that triggers signa

PDB

7SF8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18587	PLL	29 → 162	PTX/LNS-Like (PLL) domain	Domain
PF18619	GAIN_A	173 → 220	GPCR-Autoproteolysis-INducing (GAIN) subdomain A	Domain
PF01825	GPS	344 → 388	GPCR proteolysis site, GPS, motif	Motif
PF00002	7tm_2	400 → 654	7 transmembrane receptor (Secretin family)	Family

Tissue specificity

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. {ECO:0000269|PubMed:16757564}.

Sequence

MTPQSLLQTTLFLLSLLFLVQGAHGRGHREDFRFCSQRNQTHRSSLHYKPTPDLRISIEN
SEEALTVHAPFPAAHPASRSFPDPRGLYHFCLYWNRHAGRLHLLYGKRDFLLSDKASSLL
CFQHQEESLAQGPPLLATSVTSWWSPQNISLPSAASFTFSFHSPPHTAAHNASVDMCELK
RDLQLLSQFLKHPQKASRRPSAAPASQQLQSLESKLTSVRFMGDMVSFEEDRINATVWKL
QPTAGLQDLHIHSRQEEEQSEIMEYSVLLPRTLFQRTKGRSGEAEKRLLLVDFSSQALFQ
DKNSSQVLGEKVLGIVVQNTKVANLTEPVVLTFQHQLQPKNVTLQCVFWVEDPTLSSPGH
WSSAGCETVRRETQTSCFCNHLTYFAVLMVSSVEVDAVHKHYLSLLSYVGCVVSALACLV
TIAAYLCSRVPLPCRRKPRDYTIKVHMNLLLAVFLLDTSFLLSEPVALTGSEAGCRASAI
FLHFSLLTCLSWMGLEGYNLYRLVVEVFGTYVPGYLLKLSAMGWGFPIFLVTLVALVDVD
NYGPIILAVHRTPEGVIYPSMCWIRDSLVSYITNLGLFSLVFLFNMAMLATMVVQILRLR
PHTQKWSHVLTLLGLSLVLGLPWALIFFSFASGTFQLVVLYLFSIITSFQGFLIFIWYWS
MRLQARGGPSPLKSNSDSARLPISSGSTSSSRI

Sequence length

693

Interactions

View interactions

328

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Pathogenic	rs2148320944	RCV002275895
Bilateral frontoparietal polymicrogyria	Likely pathogenic; Pathogenic	rs777643880, rs556518689, rs746634404, rs774109607, rs2148318641, rs587783658, rs146278035, rs587783660, rs532188689, rs587783652, rs587783655, rs587783656, rs587783657, rs786204777, rs2545340801 View all (27 more)	RCV001731171 RCV003328489 RCV003222356 RCV005006305 RCV002262171 RCV000146050 RCV000146051 RCV000146056 RCV000146059 RCV000146038 RCV000146042 RCV000146047 RCV000146049 RCV000169661 RCV002510612 RCV005616479 RCV000193721 RCV000194408 RCV005616489 RCV000006182 RCV000006183 RCV000006184 RCV005616484 RCV000006186 RCV000006187 RCV000006188 RCV000006189 RCV003317886 RCV003328111 RCV003389379 RCV005616730 RCV005013262 RCV001833497 RCV001835796 RCV001271447 RCV003328449 RCV000754627 RCV005010758 RCV005021250 RCV005614488 RCV002504230 RCV001255739
Polymicrogyria, bilateral perisylvian, autosomal recessive	Likely pathogenic; Pathogenic	rs587777312, rs774109607, rs587783652, rs2545340801, rs587776625, rs866608532, rs1057517949, rs780718243, rs768441855, rs763238723, rs2044043566	RCV000114942 RCV005006305 RCV000762976 RCV003340499 RCV005016244 RCV005013262 RCV005010311 RCV005010412 RCV005010758 RCV005021250 RCV002504230

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of the nervous system	Conflicting classifications of pathogenicity	rs121908462	RCV001813956
Acute myeloid leukemia	Benign	rs76652341, rs2305308	RCV005916659 RCV005924407
ADGRG1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs1200876191, rs764895566, rs376948797, rs757767945, rs760775404, rs138344683, rs147495708, rs146704802, rs186479054, rs137936275, rs539751161, rs58068378, rs60624815, rs762470074, rs369887735 View all (10 more)	RCV003938670 RCV003956048 RCV003938848 RCV003930990 RCV004757520 RCV003927428 RCV003927429 RCV003917443 RCV003975149 RCV003935244 RCV004757568 RCV003957446 RCV003957476 RCV003962217 RCV003932620 RCV003932588 RCV003902737 RCV003960167 RCV003900045 RCV003962383 RCV003928539 RCV003968230 RCV003958322 RCV003925849 RCV003945834
Cervical cancer	Likely benign	rs151113792	RCV005914980
Congenital myopathy	Benign; Likely benign	rs369887735	RCV005621947
Familial cancer of breast	Likely benign; Benign	rs151113792, rs186479054	RCV005914979 RCV005888129
Gastric cancer	Benign	rs76652341	RCV005916660
Lung cancer	Benign; Likely benign	rs2305308, rs186479054	RCV005924411 RCV005888130
Lymphoma	Likely benign	rs796883107	RCV005918659
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs151113792, rs2305308	RCV005914981 RCV005924409
Sarcoma	Benign	rs2305308	RCV005924408
See cases	Uncertain significance	rs1220215860	RCV001198943
Thymoma	Benign	rs2305308	RCV005924410
Uterine corpus endometrial carcinoma	Likely benign	rs151113792	RCV005914982

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	23902976
Bile Duct Neoplasms	Associate	35413272
Brain Stem Neoplasms	Associate	30511534
Carcinogenesis	Associate	33837725, 34944065
Carcinoma Hepatocellular	Associate	23651211
Carcinoma Non Small Cell Lung	Stimulate	32856858
Carotid Stenosis	Associate	30335165
Colonic Neoplasms	Stimulate	31444231
Colorectal Neoplasms	Associate	26894861, 31444231, 36759728
Colorectal Neoplasms	Stimulate	33837725
Diabetes Mellitus	Associate	30941121
Diabetes Mellitus Type 2	Associate	34224919
Drug Related Side Effects and Adverse Reactions	Associate	35750691, 36759728
Epilepsy	Associate	19016831
Fibrosis	Associate	35222428
Glioblastoma	Associate	25356585
Glioma	Associate	27396430, 37056198
Glucose Intolerance	Associate	30941121
Heredodegenerative Disorders Nervous System	Associate	21723461
HIV Infections	Associate	30941121
Idiopathic Pulmonary Fibrosis	Inhibit	24742924
Idiopathic Pulmonary Fibrosis	Associate	35222428
Inflammation	Associate	34321876
Lennox Gastaut Syndrome	Associate	19016831
Leukemia	Associate	30848055, 35253392, 35750691
Leukemia Myeloid Acute	Associate	27258612, 30848055, 31153896, 35253392
Lung Neoplasms	Stimulate	37378668
Malformations of Cortical Development	Associate	19016831, 37056198
Melanoma	Associate	27396430, 27818281
Metabolic Syndrome	Associate	36865544
Multiple Sclerosis	Associate	30867424
Neoplasm Metastasis	Associate	27396430, 38187400
Neoplasms	Associate	23651211, 24742924, 26894861, 27396430, 31444231, 38187400
Neuroinflammatory Diseases	Associate	33069246
Neurologic Manifestations	Associate	28424266
Osteosarcoma	Associate	27396430
Polycythemia Vera	Associate	23720412
Polymicrogyria	Associate	27184850, 34848785
Polymicrogyria Bilateral Frontoparietal	Associate	19016831, 21723461, 28424266, 30511534, 37056198
Prostatic Neoplasms	Associate	36095024
Pulmonary Disease Chronic Obstructive	Associate	31382977, 34321876
Pulmonary Fibrosis	Associate	24742924
Seizures	Associate	30511534
Spasms Infantile	Associate	19016831
Thrombosis	Associate	35955827

ADGRG1 (adhesion G protein-coupled receptor G1)