Human Gene ADGRV1 (uc003kjw.3)
  Description: Homo sapiens G protein-coupled receptor 98 (ADGRV1), transcript variant 2, non-coding RNA.
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.
Transcript (Including UTRs)
   Position: hg19 chr5:90,076,898-90,460,033 Size: 383,136 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg19 chr5:90,077,182-90,459,717 Size: 382,536 Coding Exon Count: 26 

Page IndexSequence and LinksPrimersMalaCardsGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther Names
GeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:90,076,898-90,460,033)mRNA (may differ from genome)Protein (1967 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVLynxMalacardsMGIOMIMPubMed
UniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ADGRV1
Diseases sorted by gene-association score: usher syndrome, type 2c* (1327), febrile seizures, familial, 4* (1069), usher syndrome type 2* (224), usher syndrome (30), cervical neuroblastoma (16), extracranial neuroblastoma (16), febrile seizures (15), deafness, autosomal recessive 6 (12), generalized epilepsy with febrile seizures plus* (11), extragonadal seminoma (9), deafness, autosomal recessive 98 (8), usher syndrome, type 2d (8), usher syndrome, type 3a (7), usher syndrome, type 1b (7), usher syndrome, type 1d (6), clear cell ependymoma (6), retinitis pigmentosa (3), nonsyndromic deafness (1)
* = Manually curated disease association

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.00 RPKM in Adrenal Gland
Total median expression: 80.39 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.00284-0.187 Picture PostScript Text
3' UTR -65.70316-0.208 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00002 - 7 transmembrane receptor (Secretin family)
PF03160 - Calx-beta domain

ModBase Predicted Comparative 3D Structure on Q8WXG9-2
FrontTopSide
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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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-  Descriptions from all associated GenBank mRNAs
  AF435925 - Homo sapiens very large G protein-coupled receptor 1b (VLGR1) mRNA, complete cds.
AF055084 - Homo sapiens very large G-protein coupled receptor-1 (VLGR1) mRNA, complete cds.
AK024416 - Homo sapiens cDNA FLJ14354 fis, clone Y79AA1001384, highly similar to Monogenic audiogenic seizure susceptibility protein 1 homolog precursor.
AB014586 - Homo sapiens mRNA for KIAA0686 protein, partial cds.
BC172212 - Synthetic construct Homo sapiens clone IMAGE:9094358 G protein-coupled receptor 98 precursor (GPR98) gene, partial cds.
BC172210 - Synthetic construct Homo sapiens clone IMAGE:9094354 G protein-coupled receptor 98 precursor (GPR98) gene, partial cds.
BC034748 - Homo sapiens G protein-coupled receptor 98, mRNA (cDNA clone IMAGE:5183306), with apparent retained intron.
BC172211 - Synthetic construct Homo sapiens clone IMAGE:9094356 G protein-coupled receptor 98 precursor (GPR98) gene, partial cds.
JD288327 - Sequence 269351 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AF055084, GPR98, KIAA0686, KIAA1943, MASS1, NM_032119, NP_115495, Q8WXG9-2, VLGR1
UCSC ID: uc003kjw.3
RefSeq Accession: NM_032119
Protein: Q8WXG9-2, splice isoform of Q8WXG9

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ADGRV1:
usher2 (Usher Syndrome Type II)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AF055084.1
exon count: 26CDS single in 3' UTR: no RNA size: 6503
ORF size: 5904CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 10233.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 349# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.