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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed February 2007

What is the official name of the GPR98 gene?

The official name of this gene is “G protein-coupled receptor 98.”

GPR98 is the gene's official symbol. The GPR98 gene is also known by other names, listed below.

What is the normal function of the GPR98 gene?

The GPR98 gene provides instructions for making a protein called G protein-coupled receptor 98. In humans, this protein is also known as the very large G protein-coupled receptor-1 (VLGR1). The GPR98 protein is found in the inner ear and in the tissue at the back of the eye that detects light and color (the retina). Researchers believe that this protein plays a role in the development and maintenance of an inner ear structure called the cochlea. The cochlea is a snail-shaped structure that converts sound waves into nerve impulses. In the retina, studies suggest that the GPR98 protein plays a role in the development and maintenance of specialized cells that detect light and color (photoreceptor cells). This protein may be especially important for the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.

Does the GPR98 gene share characteristics with other genes?

The GPR98 gene belongs to a family of genes called GPCR (G protein-coupled receptors).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the GPR98 gene related to health conditions?

Usher syndrome - caused by mutations in the GPR98 gene

At least four mutations in the GPR98 gene have been identified in people with Usher syndrome type IIC. These mutations either prevent the production of the GPR98 protein or make an abnormal version of this protein that does not work. Mutations in GPR98 are thought to be an uncommon cause of Usher syndrome type II, responsible for only about 5 percent of cases. Retinitis pigmentosa, the vision disorder associated with Usher syndrome, appears to be relatively mild in these cases.

Where is the GPR98 gene located?

Cytogenetic Location: 5q13

Molecular Location on chromosome 5: base pairs 90,558,799 to 91,164,222

The GPR98 gene is located on the long (q) arm of chromosome 5 at position 13.

The GPR98 gene is located on the long (q) arm of chromosome 5 at position 13.

More precisely, the GPR98 gene is located from base pair 90,558,799 to base pair 91,164,222 on chromosome 5.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about GPR98?

You and your healthcare professional may find the following resources about GPR98 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the GPR98 gene or gene products?

  • FEB4
  • KIAA0686
  • MASS1
  • monogenic, audiogenic seizure susceptibility 1 homolog (mouse)
  • USH2C
  • Usher syndrome type-2C protein
  • very large G protein-coupled receptor 1
  • VLGR1
  • VLGR1b

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding GPR98?

cell ; cochlea ; gene ; monogenic ; photoreceptor ; protein ; receptor ; retina ; seizure ; susceptibility ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, Locke KG, Birch DG, Legan PK, White PC, Walsh EJ, Richardson GP. The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci. 2006 Jun 14;26(24):6543-53. (
  • McMillan DR, Kayes-Wandover KM, Richardson JA, White PC. 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 Jan 4;277(1):785-92. Epub 2001 Oct 17. (
  • Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptácek LJ. A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol. 2002 Nov;52(5):654-7. (
  • NCBI Gene (
  • Pieke-Dahl S, Möller CG, Kelley PM, Astuto LM, Cremers CW, Gorin MB, Kimberling WJ. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q. J Med Genet. 2000 Apr;37(4):256-62. (
  • Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review. (
  • Schwartz SB, Aleman TS, Cideciyan AV, Windsor EA, Sumaroka A, Roman AJ, Rane T, Smilko EE, Bennett J, Stone EM, Kimberling WJ, Liu XZ, Jacobson SG. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):734-43. (
  • Weston MD, Luijendijk MW, Humphrey KD, Möller C, Kimberling WJ. Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet. 2004 Feb;74(2):357-66. Epub 2004 Jan 20. Erratum in: Am J Hum Genet. 2004 May;74(5):1080. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: February 2007
Published: October 5, 2015