Entity Details

Primary name ADGRG6
Entity type gene
Source Source Link

Details

PrimaryID57211
RefseqGeneNG_011839
SymbolADGRG6
Nameadhesion G protein-coupled receptor G6
Chromosome6
Location6q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-09-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsAGRG6_HUMAN

GO terms

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GOName
GO:0004930 G protein-coupled receptor activity
GO:0005518 collagen binding
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007166 cell surface receptor signaling pathway
GO:0007186 G protein-coupled receptor signaling pathway
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway
GO:0007399 nervous system development
GO:0009986 cell surface
GO:0014037 Schwann cell differentiation
GO:0016021 integral component of membrane
GO:0019933 cAMP-mediated signaling
GO:0022011 myelination in peripheral nervous system
GO:0042552 myelination
GO:0043236 laminin binding
GO:0050840 extracellular matrix binding
GO:0060347 heart trabecula formation

Diseases

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Disease IDSourceNameDescription
616503 OMIMLethal congenital contracture syndrome 9 (LCCS9)A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
ADGRG6FBXO6BioGRID22268729 details
ADGRG6HNRNPLBioGRID28611215 details
ADGRG6VIRMABioGRID29507755 details