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FLASH GENE

Symbol

ADGRG6

contributors: mct/npt/pgu - updated : 14-11-2023

HGNC name	adhesion G protein-coupled receptor G6
HGNC id	13841

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	144.35 kb     26 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020455 26 splicing 6980 NP_065188 136 1221 - 2007 17056209 also called GPR126 Alpha1 transcript containing 26 exons NM_001032394 25 splicing 6896 NP_001027566 133 1193 - 2007 17056209 also called GPR126 Alpha2 transcript containing 25 exons lacking exon 6 coding for the shortest product NM_198569 25 splicing 6902 NP_940971 139 1250 - 2007 17056209 also called GPR126 Beta1 transcript containing 25 exons lacking exon 25 coding for the longest product NM_001032395 24 splicing 6850 NP_001027567 136 1222 - 2007 17056209 also called GPR126 Beta2 transcript containing 24 exons lacking exons 6 & 25

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart ventricle       Mus musculus Fetal Digestive intestine small intestine     highly Reproductive female system placenta     highly Respiratory lung         Mus musculus Adult Urinary kidney tubule       Homo sapiens Fetal   kidney tubule collecting duct   highly Homo sapiens Adult

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)     Muscular striatum cardiac     Mus musculus Fetal

cells

System Cell Pubmed Species Stage Rna symbol Cardiovascular endothelial cell Respiratory alveolar cell type 2 Homo sapiens Respiratory epithelial cell Homo sapiens Urinary epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a long extracellular N-terminal region and
	C1r-C1s, Uegf and Bmp1 (CUB) and pentraxin (PTX)-like modules
	a mucin-like spacer
	a seven transmembrane domain (7tm_2)
	a conserved GAIN domain
	a GPCR proteolytic site (GPS) domains and heptahelical transmembrane domain shared by all GPCRs

HOMOLOGY

interspecies	homolog to rattus Gpr126 (84,68 pc)
	homolog to murine Gpr126 (84.19 pc)

Homologene

FAMILY	G-protein coupled receptor 2 family
	LN-TM7 subfamily
	adhesion GPCR (aGPCR) family of proteins

CATEGORY

receptor membrane G

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	may be involved in neuropeptide signaling pathway
	playing an important role in cell-adhesion and potentially in inflammation and coagulation
	regulates the proliferation of pulmonary arterial smooth muscle cells and airway smooth muscle cells
	required autonomously in Schwann cells for myelination
	drives the differentiation of promyelinating Schwann cells by elevating cAMP levels, thereby triggering SLC22a16 expression and myelination
	potentially equired for embryonic viability and cardiovascular development
	essential for myelination and other aspects of peripheral nerve development in mammals
	new roles in axonal sorting, formation of mature non-myelinating Schwann cells and organization of the perineurium
	is required for proper trabeculation, contraction, and energy metabolism of the heart
	acts as a receptor to drive myelin gene expression in PNS Schwann cells, whereas in the heart, the N-terminus of GPR126 acts as a ligand or coreceptor activating an unknown receptor
	directly increases cAMP by coupling to heterotrimeric G-proteins
	functions potentially in Schwann cells for proper development and myelination and these functions are mediated via G-protein-signaling pathways
	modulates both physiological and pathological angiogenesis through VEGFA signaling, providing a potential target for the treatment of angiogenesis-related diseases
	is critical for myelination of peripheral nerves
	has also been implicated in bone mineralization
	ADGRG6 is essential for Schwann cells (SCs) development and myelination
	adhesion G protein-coupled receptor essential for Schwann cell (SC) myelination with important contributions to repair after nerve crush injury
	ADGRG6 contributes to the terminal Schwann cell response at the neuromuscular junction following peripheral nerve injury
	ADGRG6 extracellular regions (ECRs) utilizes a multi-faceted dynamic approach to regulate receptor function and provide relevant insights for ECR-targeted drug design
	ADGRG6 is essential for placental development
	possible role of ADGRG6 in kidney physiology
	critical developmental roles in Schwann cell maturation and its mediated myelination in the peripheral nervous system
	is likely involved in mounting an epithelial inflammatory response to smoke exposure

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

ADGRG6-expressing cells are known to be exposed to mechanical stimuli

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCN4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in type 2 alveolar epithelial cells is decreased in chronic obstructive pulmonary disease (COPD)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed respiratory lung chr.Bronchopathy obstructive as likely a novel therapeutic target for COPD neurology acquired   represents an attractive potential target to stimulate repair in myelin disease or following nerve injury

ANIMAL & CELL MODELS

	Gpr126 deletion causes heart phenotypes in mice causing embryonic lethality
	a mutation in Gpr126 causes a severe congenital hypomyelinating peripheral neuropathy in mice
	Gpr126-/- mice have a lethal arthrogryposis phenotype
	Gpr126-null mice with a heterozygous placenta survive but exhibit GPR126-defective peripheral nervous system (PNS) phenotype