ADGRG6 (adhesion G protein-coupled receptor G6)

2019-04-01  

Identity

HGNC
LOCATION
6q24.2
LOCUSID
ALIAS
APG1,DREG,GPR126,LCCS9,PR126,PS1TP2,VIGR
FUSION GENES

Other Information

Locus ID:

NCBI: 57211
MIM: 612243
HGNC: 13841
Ensembl: ENSG00000112414

Variants:

dbSNP: 57211
ClinVar: 57211
TCGA: ENSG00000112414
COSMIC: ADGRG6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112414ENST00000230173Q86SQ4
ENSG00000112414ENST00000296932Q86SQ4
ENSG00000112414ENST00000367608Q86SQ4
ENSG00000112414ENST00000367609Q86SQ4
ENSG00000112414ENST00000435011F5H054
ENSG00000112414ENST00000508295H0YGP2
ENSG00000112414ENST00000540208H0YFM8
ENSG00000112414ENST00000541199F5H2L1

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
200108352010Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function.251
236662382013Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.80
242277092013Gpr126 functions in Schwann cells to control differentiation and myelination via G-protein activation.64
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
203977482010Genome-wide association study of height and body mass index in Australian twin families.30
260042012015Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.30
259540322015Gpr126/Adgrg6 deletion in cartilage models idiopathic scoliosis and pectus excavatum in mice.24
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
206770142010An approach based on a genome-wide association study reveals candidate loci for narcolepsy.16

Citation

Dessen P

ADGRG6 (adhesion G protein-coupled receptor G6)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57875/adgrg6-(adhesion-g-protein-coupled-receptor-g6)