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Function
Receptor that may have an important role in the development of the central nervous system.
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Tissue specificity
Expressed at low levels in adult tissues.
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Involvement in disease
Defects in GPR98 are the cause of Usher syndrome type 2C (USH2C) [MIM:605472]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Defects in GPR98 may be a cause of familial febrile convulsions type 4 (FEB4) [MIM:604352]; also known as familial febrile seizures 4. Febrile convulsions are seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy.
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Sequence similarities
Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily.
Contains 35 Calx-beta domains.
Contains 6 EAR repeats.
Contains 1 GPS domain.
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Developmental stage
Isoform 1 is 4 times more abundant than isoform 2 in most tissues tested, despite wide variations in absolute levels of expression. Isoform 3 is expressed at about 1.5 times isoform 1 levels in most tissues examined. In fetal testis, isoform 3 is expressed almost exclusively.
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Cellular localization
Cell membrane.
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Information by UniProt
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Database links
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Alternative names
- DKFZp761P0710 antibody
- FEB 4 antibody
- FEB4 antibody
- G protein coupled receptor 98 antibody
- G-protein coupled receptor 98 antibody
- GPR 98 antibody
- GPR98 antibody
- GPR98_HUMAN antibody
- KIAA0686 antibody
- MASS 1 antibody
- Monogenic audiogenic seizure susceptibility 1 homolog antibody
- Monogenic audiogenic seizure susceptibility protein 1 homolog antibody
- USH 2B antibody
- USH 2C antibody
- USH2B antibody
- USH2C antibody
- Usher syndrome 2C antibody
- Usher syndrome type 2C protein antibody
- Usher syndrome type-2C protein antibody
- Very large G protein coupled receptor antibody
- Very large G protein coupled receptor 1 antibody
- Very large G-protein coupled receptor 1 antibody
- VLGR 1 antibody
- VLGR 1b antibody
- VLGR1 antibody
- VLGR1b antibody
see all