ADGRV1 (adhesion G protein-coupled receptor V1)

2015-11-01  

Identity

HGNC
ADGRV1
LOCATION
5q14.3
LOCUSID
84059
ALIAS
FEB4,GPR98,MASS1,USH2B,USH2C,VLGR1,VLGR1b
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84059
MIM: 602851
HGNC: 17416
Ensembl: ENSG00000164199

Variants:

dbSNP: 84059
ClinVar: 84059
TCGA: ENSG00000164199
COSMIC: ADGRV1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164199ENST00000405460Q8WXG9
ENSG00000164199ENST00000425867A0A1X7SBU6
ENSG00000164199ENST00000450321A0A1W2PR51
ENSG00000164199ENST00000507314A0A1W2PP32
ENSG00000164199ENST00000508842D6RIF0
ENSG00000164199ENST00000638975A0A1W2PRR5
ENSG00000164199ENST00000638990A0A1W2PS99
ENSG00000164199ENST00000639431A0A1W2PNS5
ENSG00000164199ENST00000639707A0A1W2PQU5
ENSG00000164199ENST00000639821A0A1W2PQP9
ENSG00000164199ENST00000640012A0A1W2PS08
ENSG00000164199ENST00000640369A0A1W2PQU5
ENSG00000164199ENST00000640403A0A1W2PRC7
ENSG00000164199ENST00000640407A0A1W2PPA4
ENSG00000164199ENST00000640779A0A1W2PR84
ENSG00000164199ENST00000640815A0A1W2PQK7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
197306832009The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors.59
201952662011Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.49
184631602008Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.42
196839992010Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.33
124022662002A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.29
156713072005Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.21
221476582012Non-USH2A mutations in USH2 patients.21
188548722009Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.19

Citation

Dessen P

ADGRV1 (adhesion G protein-coupled receptor V1)

Atlas Genet Cytogenet Oncol Haematol. 2015-11-01

Online version: http://atlasgeneticsoncology.org/gene/55517/adgrv1