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FLASH GENE

Symbol

ADGRG6

contributors: mct/npt/pgu - updated : 19-03-2014

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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	AMCN4 arthrogryposis multiplex congenita, neurogenic 4
Location	6q24.2      Physical location : -
Synonym name	putative vascular inducible G protein-coupled
	developmentally regulated G-protein-coupled receptor
	HBV PreS1-transactivated protein 2
	G protein-coupled receptor 126
Synonym symbol(s)	FLJ14937, DREG, PS1TP2, VIGR, APG1, GPR126, LCCS9, PR126

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   liver         Nervous brain         Reproductive female system placenta     highly Respiratory lung         Mus musculus 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

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
	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
	is critical for myelination of peripheral nerves
	has also been implicated in bone mineralization

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

AMCN4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

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