GPR98

G protein-coupled receptor 98
Identifiers
Symbols	GPR98; FEB4; MASS1; USH2B; USH2C; VLGR1; VLGR1b
External IDs	OMIM: 602851 MGI: 1274784 HomoloGene: 19815 IUPHAR: GPR98 GeneCards: GPR98 Gene
Gene Ontology Molecular function • G-protein coupled receptor activity • calcium ion binding • protein binding • myosin binding Cellular component • stereocilia ankle link complex • cytoplasm • plasma membrane • cell surface • membrane • integral to membrane Biological process • G-protein coupled receptor signaling pathway • neuropeptide signaling pathway • nervous system development • sensory perception of sound • cell-cell adhesion • photoreceptor cell maintenance • maintenance of organ identity • neurological system process • detection of mechanical stimulus involved in sensory perception of sound • sensory perception of light stimulus • inner ear receptor stereocilium organization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	84059	110789
Ensembl	ENSG00000164199	ENSMUSG00000069170
UniProt	Q8WXG9	Q8VHN7
RefSeq (mRNA)	NM_032119.3	NM_054053.4
RefSeq (protein)	NP_115495.3	NP_473394.3
Location (UCSC)	Chr 5: 89.83 – 90.46 Mb	Chr 13: 81.1 – 81.63 Mb
PubMed search	[1]	[2]

G protein-coupled receptor 98, also known as GPR98 or VLGR1, is a protein that in humans is encoded by the GPR98 gene. Several alternatively spliced transcripts have been described.

Function

This gene encodes a member of the adhesion-GPCR family of receptors. The protein binds calcium and is expressed in the central nervous system. It is also known as very large G-protein coupled receptor 1 because it is 6300 residues long. It contains a C-terminal 7-transmembrane receptor domain, whereas the large N-terminal segment (5900 residues) includes 35 calcium binding Calx-beta domains, and 6 EAR domains.

Clinical significance

Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures.

Further reading

• Staub E, Pérez-Tur J, Siebert R, et al. (2002). "The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders.". Trends Biochem. Sci. 27 (9): 441–4. doi:10.1016/S0968-0004(02)02163-1. PMID 12217514.
• Ishikawa K, Nagase T, Suyama M, et al. (1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
• Nakayama J, Hamano K, Iwasaki N, et al. (2000). "Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.". Hum. Mol. Genet. 9 (1): 87–91. doi:10.1093/hmg/9.1.87. PMID 10587582.
• Pieke-Dahl S, Möller CG, Kelley PM, et al. (2000). "Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.". J. Med. Genet. 37 (4): 256–62. doi:10.1136/jmg.37.4.256. PMC 1734554. PMID 10745043. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1734554/.
• Nikkila H, McMillan DR, Nunez BS, et al. (2001). "Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain.". Mol. Endocrinol. 14 (9): 1351–64. doi:10.1210/me.14.9.1351. PMID 10976914.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166. //www.ncbi.nlm.nih.gov/pmc/articles/PMC311072/.
• Skradski SL, Clark AM, Jiang H, et al. (2001). "A novel gene causing a mendelian audiogenic mouse epilepsy.". Neuron 31 (4): 537–44. doi:10.1016/S0896-6273(01)00397-X. PMID 11545713.
• McMillan DR, Kayes-Wandover KM, Richardson JA, White PC (2002). "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. 277 (1): 785–92. doi:10.1074/jbc.M108929200. PMID 11606593.
• Nagase T, Kikuno R, Ohara O (2002). "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins.". DNA Res. 8 (6): 319–27. doi:10.1093/dnares/8.6.319. PMID 11853319.
• Nakayama J, Fu YH, Clark AM, et al. (2002). "A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.". Ann. Neurol. 52 (5): 654–7. doi:10.1002/ana.10347. PMID 12402266.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Weston MD, Luijendijk MW, Humphrey KD, et al. (2004). "Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.". Am. J. Hum. Genet. 74 (2): 357–66. doi:10.1086/381685. PMC 1181933. PMID 14740321. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1181933/.
• Bjarnadóttir TK, Fredriksson R, Höglund PJ, et al. (2005). "The human and mouse repertoire of the adhesion family of G-protein-coupled receptors.". Genomics 84 (1): 23–33. doi:10.1016/j.ygeno.2003.12.004. PMID 15203201.
• Fu GK, Wang JT, Yang J, et al. (2005). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes.". Genomics 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
• Schwartz SB, Aleman TS, Cideciyan AV, et al. (2005). "Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.". Invest. Ophthalmol. Vis. Sci. 46 (2): 734–43. doi:10.1167/iovs.04-1136. PMID 15671307.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. //www.ncbi.nlm.nih.gov/pmc/articles/PMC1356129/.

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type II