ADGRV1

Summary

Gene Symbol: ADGRV1
Description: adhesion G protein-coupled receptor V1
Alias: FEB4, GPR98, MASS1, USH2B, USH2C, VLGR1, VLGR1b, G-protein coupled receptor 98, monogenic audiogenic seizure susceptibility protein 1 homolog, usher syndrome type-2C protein, very large G-protein coupled receptor 1
Species: human
Products:     ADGRV1

Top Publications

  1. Kiel D, Demissie S, Dupuis J, Lunetta K, Murabito J, Karasik D. Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet. 2007;8 Suppl 1:S14 pubmed
    ..ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis. ..
  2. Weston M, Luijendijk M, Humphrey K, Moller C, Kimberling W. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004;74:357-66 pubmed
    ..The VLGR1 (MASS1) gene in the 5q14.3-q21...
  3. Nikkila H, McMillan D, Nunez B, Pascoe L, Curnow K, White P. Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. Mol Endocrinol. 2000;14:1351-64 pubmed
    ..receptor is one of the largest known and is therefore referred to as a very large G protein-coupled receptor, or VLGR1. It is most closely related to the secretin family of G protein-coupled receptors based on similarity of the ..
  4. Ebermann I, Phillips J, Liebau M, Koenekoop R, Schermer B, Lopez I, et al. PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest. 2010;120:1812-23 pubmed publisher
    ..were present in patients with truncating mutations in USH2A, G protein-coupled receptor 98 (GPR98; also known as USH2C), and an unidentified locus...
  5. Besnard T, Vache C, Baux D, Larrieu L, Abadie C, Blanchet C, et al. Non-USH2A mutations in USH2 patients. Hum Mutat. 2012;33:504-10 pubmed publisher
    We have systematically analyzed the two known minor genes involved in Usher syndrome type 2, DFNB31 and GPR98, for mutations in a cohort of 31 patients not linked to USH2A...
  6. McMillan D, Kayes Wandover K, Richardson J, White P. Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system. J Biol Chem. 2002;277:785-92 pubmed
    ..The longest gene product, VLGR1b, is 6307 amino acids (6298 amino acids in mice) due to a much larger ectodomain containing 35 calcium exchanger ..
  7. Van Wijk E, van der Zwaag B, Peters T, Zimmermann U, te Brinke H, Kersten F, et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet. 2006;15:751-65 pubmed
    ..and differentially expressed, and we provide evidence that whirlin directly associates with USH2A isoform b and VLGR1b, two proteins that we previously reported to be part of the Usher protein interactome...
  8. Aparisi M, Aller E, Fuster García C, García García G, Rodrigo R, Vázquez Manrique R, et al. Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis. 2014;9:168 pubmed publisher
    ..capture all exons of the 10 known causative Usher syndrome genes (MYO7A, USH1C, CDH23, PCDH15, USH1G, CIB2, USH2A, GPR98, DFNB31 and CLRN1), the two Usher syndrome-related genes (HARS and PDZD7) and the two candidate genes VEZT and ..
  9. Kim N, Kim A, Park K, Kim S, Kim M, Nam J, et al. Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population. Genet Med. 2015;17:901-11 pubmed publisher
    ..AR mutations in OTOGL and SERPINB6 and digenic inheritance involving two deafness genes, GPR98 and PDZ7, were detected. A de novo AD mutation also was detected in TECTA and MYH14...

More Information

Publications54

  1. Myers K, Nasioulas S, Boys A, McMahon J, Slater H, Lockhart P, et al. ADGRV1 is implicated in myoclonic epilepsy. Epilepsia. 2018;59:381-388 pubmed publisher
    To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at the 5q14.3 chromosomal locus in myoclonic epilepsy. We studied the epilepsy phenotypes of 4 individuals with 5q14...
  2. Chen Q, Zou J, Shen Z, Zhang W, Yang J. Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem. 2014;289:36070-88 pubmed publisher
    ..Among the three USH clinical types, type 2 (USH2) occurs most commonly. USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients...
  3. Kotmool K, Kaewmaraya T, Chakraborty S, Anversa J, Bovornratanaraks T, Luo W, et al. Revealing an unusual transparent phase of superhard iron tetraboride under high pressure. Proc Natl Acad Sci U S A. 2014;111:17050-3 pubmed publisher
    First principles-based electronic structure calculations of superhard iron tetraboride (FeB4) under high pressure have been undertaken in this study...
  4. Khan S, Javed M, Qasim M, Shahzadi S, Jalil A, Rehman S. Domain analyses of Usher syndrome causing Clarin-1 and GPR98 protein models. Bioinformation. 2014;10:491-5 pubmed publisher
    ..A mutation in any of these genes e.g. CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, USH2A and DFNB31 can result in Usher syndrome or non-syndromic deafness...
  5. Sherman S, Carr J, Wang D, O DORISIO M, O Dorisio T, Howe J. Gastric inhibitory polypeptide receptor (GIPR) is a promising target for imaging and therapy in neuroendocrine tumors. Surgery. 2013;154:1206-13; discussion 1214 pubmed publisher
    ..Relative to normal tissue, primary NET expression of SSTR2, GPR98, BRS3, GIPR, GRM1, and OPRK1 were increased by 3, 8, 13, 13, 17, and 20-fold, respectively...
  6. Fox E, Young J, Li Y, Dreisbach A, Keating B, Musani S, et al. Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet. 2011;20:2273-84 pubmed publisher
    ..For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 × 10(-8)) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 × 10(-8))...
  7. Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, et al. Cone dystrophy in patient with homozygous RP1L1 mutation. Biomed Res Int. 2015;2015:545243 pubmed publisher
    ..NGS identified missense changes in the heterozygous state of the PCDH15, RPGRIP1, and GPR98 genes...
  8. Wang Q, Zhang Q, Hu M, Ma M, Xu B, He J. A semiconductive superhard FeBâ‚„ phase from first-principles calculations. Phys Chem Chem Phys. 2014;16:22008-13 pubmed publisher
    An oP10-FeB4 phase [H. Gou, et al., Phys. Rev. Lett., 2013, 111, 157002] was recently synthesized based on previous theoretical predictions...
  9. Grati M, Shin J, Weston M, Green J, Bhat M, Gillespie P, et al. Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J Neurosci. 2012;32:14288-93 pubmed publisher
    ..Monoallelic mutations in PDZD7 increase the severity of Usher type II syndrome caused by mutations in USH2A and GPR98, which respectively encode usherin and GPR98...
  10. Wei C, Yang L, Cheng J, Imani S, Fu S, Lv H, et al. A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing. BMC Med Genet. 2018;19:99 pubmed publisher
    ..We performed targeted next-generation sequencing analysis and Sanger sequencing to explore the GPR98 mutations in a USH2C pedigree that included a 32-year-old male patient from a consanguineous marriage family...
  11. Italiano D, Striano P, Russo E, Leo A, Spina E, Zara F, et al. Genetics of reflex seizures and epilepsies in humans and animals. Epilepsy Res. 2016;121:47-54 pubmed publisher
    ..Moreover, in Frings and Black Swiss mice, the spontaneous mutations of MASS1 and JAMS1 genes, respectively, have been linked to audiogenic seizures...
  12. Zhang Y, Wu L, Wan B, Zhao Y, Gao R, Li Z, et al. Structural variety beyond appearance: high-pressure phases of CrB4 in comparison with FeB4. Phys Chem Chem Phys. 2016;18:2361-8 pubmed publisher
    ..reveal a distinct structural evolution under pressure for CrB4 despite having the same initial structure as FeB4. CrB4 is found to adopt a new P2/m structure above 196 GPa, another Pm structure at a pressure range of 261-294 GPa ..
  13. Fu Q, Cheng J, Zhang J, Zhang Y, Chen X, Xie J, et al. [MiR-145 inhibits drug resistance to Oxaliplatin in colorectal cancer cells through regulating G protein coupled receptor 98]. Zhonghua Wei Chang Wai Ke Za Zhi. 2017;20:566-570 pubmed
    ..After determination of G protein coupled receptor 98(GPR98) as target gene, corresponding plasmids were constructed and transfected to establish HCT116/L-..
  14. Gariballa N, Ben Mahmoud A, Komara M, Al Shamsi A, John A, Ali B, et al. A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. Am J Med Genet A. 2017;173:1257-1263 pubmed publisher
    ..1159T>C, SYNE4: c.313G>C, and GPR98: c.18746T>G) excluded them from being responsible for the hearing loss in the proposita...
  15. Jiang L, Liang X, Li Y, Wang J, Zaneveld J, Wang H, et al. Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis. 2015;10:110 pubmed publisher
    ..In addition, we identify mutations in CLRN1, DFNB31, GPR98 and PCDH15 for the first time in Chinese USH patients...
  16. Lingao M, Ganesh A, Karthikeyan A, Al Zuhaibi S, Al Hosni A, Al Khayat A, et al. Macular cystoid spaces in patients with retinal dystrophy. Ophthalmic Genet. 2016;37:377-383 pubmed
    ..Genetic testing showed mutations of NR2E3, XLRS, CRB1, GPR98 and CNGB1. Non-leaking MCS occur in a variety of retinal dystrophies...
  17. Zhou X, Wang X, Yang Y, Luo J, Dong H, Liu Y, et al. Biomarkers related with seizure risk in glioma patients: A systematic review. Clin Neurol Neurosurg. 2016;151:113-119 pubmed publisher
    ..overexpression of adenosine kinase (ADK) and low expression of very large G-protein-coupled receptor-1 (VLGR1) are primarily involved in synaptic transmission, whereas BRAF mutations, epidermal growth factor receptor (EGFR) ..
  18. Yang J, Huang X, Tong Y, Jin Z. Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome. Clin Exp Ophthalmol. 2016;44:197-9 pubmed publisher
  19. Bousfiha A, Bakhchane A, Charoute H, Detsouli M, Rouba H, Charif M, et al. Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Mol Biol Rep. 2017;44:429-434 pubmed publisher
    In the present work, we identified two novel compound heterozygote mutations in the GPR98 (G protein-coupled receptor 98) gene causing Usher syndrome...
  20. Kahrizi K, Bazazzadegan N, Jamali L, Nikzat N, Kashef A, Najmabadi H. A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II. J Genet. 2014;93:837-41 pubmed
  21. Hmani Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, et al. Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. Eur J Hum Genet. 2009;17:474-82 pubmed publisher
    ..Indeed, linkage analysis disclosed the cosegregation of the USH2 phenotype with the USH2C locus markers, D5S428 and D5S618, whereas the ARRP perfectly segregates with PDE6B flanking markers D4S3360 and ..
  22. Hmani M, Ghorbel A, Boulila Elgaied A, Ben Zina Z, Kammoun W, Drira M, et al. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2. Eur J Hum Genet. 1999;7:363-7 pubmed
    ..This maps the gene underlying USH2B to a chromosomal region which overlaps the interval defined for the non-syndromic sensorineural recessive deafness ..
  23. Wang Y, Fan X, Zhang W, Zhang C, Wang J, Jiang T, et al. Deficiency of very large G-protein-coupled receptor-1 is a risk factor of tumor-related epilepsy: a whole transcriptome sequencing analysis. J Neurooncol. 2015;121:609-16 pubmed publisher
    ..One of the genes, Very large G-protein-coupled receptor-1 (VLGR1), had been previously associated with seizures...
  24. Moteki H, Yoshimura H, Azaiez H, Booth K, Shearer A, Sloan C, et al. USH2 caused by GPR98 mutation diagnosed by massively parallel sequencing in advance of the occurrence of visual symptoms. Ann Otol Rhinol Laryngol. 2015;124 Suppl 1:123S-8S pubmed publisher
    We present 2 patients who were identified with mutations in the GPR98 gene that causes Usher syndrome type 2 (USH2). One hundred ninety-four (194) Japanese subjects from unrelated families were enrolled in the study...
  25. Wang P, Fan X, Wang Y, Fan Y, Liu Y, Zhang S, et al. Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia. Oncotarget. 2017;8:63324-63332 pubmed publisher
    ..was used and highlighted several strong candidate genes MUC4, MUC6, COL4A4, MYO7A, AKAP12, COL11A1, DSPP, ESPN, GPR98, PCDH15, BSN, CACNA1D, TPRN, and USH1C for microtia (P = 2.51 × 10-4)...
  26. García García G, Besnard T, Baux D, Vache C, Aller E, Malcolm S, et al. The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort. Mol Vis. 2013;19:367-73 pubmed
    ..To date, three disease-causing genes have been identified, USH2A, GPR98, and DFNB31, of which USH2A is clearly the major contributor...
  27. Yoshimura H, Iwasaki S, Nishio S, Kumakawa K, Tono T, Kobayashi Y, et al. Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1. PLoS ONE. 2014;9:e90688 pubmed publisher
    ..In addition, the simultaneous mutation analysis of large numbers of genes is useful for detecting mutations in different genes that are possibly disease modifiers or of digenic inheritance. ..
  28. Reiners J, Van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005;14:3933-43 pubmed
    ..between the scaffold protein harmonin (USH1C) and the USH2A protein, VLGR1 (USH2C) and the candidate for USH2B, NBC3...
  29. Nakayama J, Fu Y, Clark A, Nakahara S, Hamano K, Iwasaki N, et al. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002;52:654-7 pubmed
    A naturally occurring mutation of the mass1 (monogenic audiogenic seizure-susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures...
  30. Jaijo T, Aller E, García García G, Aparisi M, Bernal S, Avila Fernandez A, et al. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci. 2010;51:1311-7 pubmed publisher
    ..Results must be confirmed by direct sequencing to avoid misdiagnosis, and continuous updates of the microarray should be performed to increase the efficiency and rate of detection of mutations. ..
  31. Pieke Dahl S, Kimberling W, Gorin M, Weston M, Furman J, Pikus A, et al. Genetic heterogeneity of Usher syndrome type II. J Med Genet. 1993;30:843-8 pubmed
    ..Heterogeneity of Usher syndrome type II complicates efforts to isolate and clone Usher syndrome genes using linkage analysis and limits the use of DNA markers in early detection of Usher type II. ..
  32. Schwartz S, Aleman T, Cideciyan A, Windsor E, Sumaroka A, Roman A, et al. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci. 2005;46:734-43 pubmed
    ..disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome...
  33. Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet. 2000;9:87-91 pubmed
    ..These findings indicate that there is a gene on chromosome 5q14-q15 that confers susceptibility to FSs and we call this gene FEB4.
  34. Skradski S, Clark A, Jiang H, White H, Fu Y, Ptacek L. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron. 2001;31:537-44 pubmed
    ..Study of the MASS1 protein will lead to new insights into regulation of neuronal excitability and a new pathway through which ..
  35. Staub E, Perez Tur J, Siebert R, Nobile C, Moschonas N, Deloukas P, et al. The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders. Trends Biochem Sci. 2002;27:441-4 pubmed
    ..Genes encoding proteins of this family are located in genomic regions associated with epilepsy and other neurological disorders. ..
  36. Hu Q, Dong J, DU H, Zhang D, Ren H, Ma M, et al. Constitutive G?i coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein. J Biol Chem. 2014;289:24215-25 pubmed publisher
    The very large G protein-coupled receptor 1 (VLGR1) is a core component in inner ear hair cell development...
  37. Pieke Dahl S, Moller C, Kelley P, Astuto L, Cremers C, Gorin M, et al. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. J Med Genet. 2000;37:256-62 pubmed
    ..Enamel hypoplasia and severe, very early onset RP were observed in two of the three unlinked families; dental anomalies have not been previously described as a feature of Usher type II. ..
  38. Urano T, Shiraki M, Yagi H, Ito M, Sasaki N, Sato M, et al. GPR98/Gpr98 gene is involved in the regulation of human and mouse bone mineral density. J Clin Endocrinol Metab. 2012;97:E565-74 pubmed publisher
    ..We focused on an SNP of G protein-coupled receptor 98 (GPR98) gene that showed a significant P value after the multiple-comparison tests in Japanese postmenopausal women...
  39. Guo T, Repetto G, McDonald McGinn D, Chung J, Nomaru H, Campbell C, et al. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet. 2017;10: pubmed publisher
    ..98×10-8) in an intron of the adhesion GPR98 (G-protein-coupled receptor V1) gene on chromosome 5q14.3...
  40. Adkins D, Aberg K, McClay J, Bukszar J, Zhao Z, Jia P, et al. Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs. Mol Psychiatry. 2011;16:321-32 pubmed publisher
    ..055). Genomewide significant finding were also found for SNPs in PRKAR2B, GPR98, FHOD3, RNF144A, ASTN2, SOX5 and ATF7IP2, as well as in several intergenic markers...
  41. Magliulo G, Iannella G, Gagliardi S, Iozzo N, Plateroti R, Mariottini A, et al. Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation. Otolaryngol Head Neck Surg. 2017;157:853-860 pubmed publisher
    ..0%) patients. Conclusion A vestibular evaluation with vestibular evoked myogenic potentials and v-HIT seems to identify latent damage to the vestibular receptors of USH2 patients. ..
  42. Jacobson S, Cideciyan A, Aleman T, Sumaroka A, Roman A, Gardner L, et al. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet. 2008;17:2405-15 pubmed publisher
    ..Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A (USH1B)...
  43. Ebermann I, Wiesen M, Zrenner E, Lopez I, Pigeon R, Kohl S, et al. GPR98 mutations cause Usher syndrome type 2 in males. J Med Genet. 2009;46:277-80 pubmed publisher
    Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98 mutations cause a more severe, and eventually lethal, phenotype in males...