Human Gene GPR98 (uc003kju.3) Description and Page Index
Description: Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. RefSeq Summary (NM_032119): This gene encodes a member of the G-protein coupled receptor superfamily. The encoded protein contains a 7-transmembrane receptor domain, binds calcium and is expressed in the central nervous system. Mutations in this gene are associated with Usher syndrome 2 and familial febrile seizures. Several alternatively spliced transcripts have been described. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF435925.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN03267750, SAMN03267768 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000405460.9/ ENSP00000384582.2 RefSeq Select criteria :: based on conservation ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr5:89,854,617-90,460,033 Size: 605,417 Total Exon Count: 90 Strand: + Coding Region Position: hg19 chr5:89,854,713-90,459,717 Size: 605,005 Coding Exon Count: 90
ID:GPR98_HUMAN DESCRIPTION: RecName: Full=G-protein coupled receptor 98; AltName: Full=Monogenic audiogenic seizure susceptibility protein 1 homolog; AltName: Full=Usher syndrome type-2C protein; AltName: Full=Very large G-protein coupled receptor 1; Flags: Precursor; FUNCTION: Receptor that may have an important role in the development of the central nervous system. SUBUNIT: Interacts with WHRN. Interacts with PDZD7. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Expressed at low levels in adult tissues. 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. 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. DISEASE: 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. MISCELLANEOUS: By far is the largest known cell surface protein. SIMILARITY: Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. SIMILARITY: Contains 35 Calx-beta domains. SIMILARITY: Contains 6 EAR repeats. SIMILARITY: Contains 1 GPS domain. SEQUENCE CAUTION: Sequence=AAL30811.1; Type=Frameshift; Positions=3524, 3532; Sequence=CAB66476.2; Type=Erroneous translation; Note=Wrong genetic code use for translating the sequence; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GPR98";
Genetic Association Studies of Complex Diseases and Disorders
Benzodiazepines D E Adkins et al. Molecular psychiatry 2011, Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs., Molecular psychiatry.
Body Weight Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics.
Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
Bone Density Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics.
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.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8WXG9
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.