ADGRV1 - adhesion G protein-coupled receptor V1 Gene

Also Known as FEB4; GPR98; MASS1; USH2B; USH2C; VLGR1; VLGR1b

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84059

About ADGRV1

Cytogenetic location: 5q14.3 Genomic coordinates (GRCh38): 5:90,558,797-91,164,437 (from NCBI)

This gene has 37 transcripts (splice variants), 258 orthologues, 7 paralogues and is associated with 5 phenotypes. Biased expression in adrenal (RPKM 8.5), brain (RPKM 6.0) and 6 other tissues.

Summary

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]

ADGRV1 Products (1)

mRNA	Protein	Name
NM_032119.4	NP_115495.3	adhesion G-protein coupled receptor V1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion binding	IDA IDA: Inferred from direct assay	10976914	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16301216	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in maintenance of animal organ identity	IMP IMP: Inferred from mutant phenotype	15671307	GOA
involved in nervous system process	IMP IMP: Inferred from mutant phenotype	12402266	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	14740321	GOA
involved in sensory perception of light stimulus	IMP IMP: Inferred from mutant phenotype	14740321	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	14740321	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	10976914	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16434480	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ADGRV1 Protein Structure

Calx-beta

Laminin_G_3

Calx-beta

EPTP

Calx-beta

GPS

7tm_2

0
1000
2000
3000
4000
5000
6306 a.a.

Protein Preferred Names	Protein Names
adhesion G-protein coupled receptor V1	G-protein coupled receptor 98

Related Diseases

Diseases	Alias
Usher Syndrome, Type Iic	Usher Syndrome Type 2c USH2C Usher Syndrome, Type 2c Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic Usher Syndrome Type Iic Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic Usher Syndrome 2c Usher'S Syndrome Type 2c Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic
Febrile Seizures, Familial, 4	FEB4 Convulsions, Familial Febrile, 4 Familial Febrile Seizures 4 Familial Febrile Convulsions 4
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Rare Genetic Deafness	Rare Genetic Hearing Loss
Epilepsy, Idiopathic Generalized	Idiopathic Generalized Epilepsy Generalised Epilepsy Epilepsy, Generalized EIG Ige Epilepsy, Idiopathic Generalized, Susceptibility To, 1 Epilepsy, Idiopathic Generalized 1 Epilepsy, Idiopathic Generalized, Susceptibility To Epilepsy, Idiopathic, Generalized Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Generalized Epilepsy With Febrile Seizures Plus	Gefs+ Genetic Epilepsy With Febrile Seizures Plus Generalized Epilepsy With Febrile Seizures-Plus Genetic Epilepsy With Febrile Seizures-Plus Epilepsy, Generalized, With Febrile Seizures Plus
Febrile Seizures	Febrile Seizure Febrile Convulsions Seizures Febrile
Ear Malformation	Cup Ear
Familial Febrile Seizures	Familial Febrile Convulsions Feb Febrile Seizures, Familial
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Usher Syndrome, Type Iid	Usher Syndrome Type 2d USH2D Usher Syndrome, Type 2d Usher Syndrome Type Iid Usher Syndrome 2d Usher Syndrome, Type Ii
Deafness, Autosomal Recessive 31	DFNB31 Whirler, Mouse, Homolog Of Autosomal Recessive Nonsyndromic Deafness 31 Autosomal Recessive Deafness 31 Deafness, Autosomal Recessive, 31 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31 Deafness, Autosomal Recessive, Type 31
Myoclonic Epilepsy, Juvenile 4	EJM4 Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 Myoclonic Epilepsy, Juvenile, 4 Juvenile Myoclonic Epilepsy 4
Febrile Seizures, Familial, 11	FEB11 Familial Febrile Seizures 11 Familial Febrile Convulsions 11 Convulsions, Familial Febrile, 11 Familial Mesial Temporal Lobe Epilepsy With Febrile Seizures
Generalized Epilepsy With Febrile Seizures Plus, Type 4	GEFSP4 Gefs+4 Generalized Epilepsy With Febrile Seizures Plus 4 Gefs+, Type 4 Generalised Epilepsy With Febrile Seizures Plus 4 Generalised Epilepsy With Febrile Seizures Plus Type 4 Generalized Epilepsy With Febrile Seizures Plus Type 4
Deafness, Autosomal Recessive 57	DFNB57 Autosomal Recessive Nonsyndromic Deafness 57 Autosomal Recessive Deafness 57 Deafness, Autosomal Recessive, 57 Deafness, Autosomal Recessive, Type 57
Febrile Seizures, Familial, 8	FEB8 Epilepsy, Childhood Absence 2 Generalized Epilepsy With Febrile Seizures Plus 3 Generalized Epilepsy With Febrile Seizures Plus, Type 3 Familial Febrile Seizures 8 Familial Febrile Convulsions 8 Epilepsy, Childhood Absence, Susceptibility To, 2 ECA2 GEFS+3 Gefs+ Type 3 Gefsp3 Epilepsy, Generalized, With Febrile Seizures Plus, Type 3
Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 100	DFNB100 Autosomal Recessive Nonsyndromic Deafness 100 Autosomal Recessive Deafness 100 Deafness, Autosomal Recessive, 100
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Generalized Epilepsy With Febrile Seizures Plus, Type 6	GEFSP6 Gefs+6 Generalized Epilepsy With Febrile Seizures Plus 6 Gefs+, Type 6 Generalised Epilepsy With Febrile Seizures Plus 6 Generalised Epilepsy With Febrile Seizures Plus Type 6 Generalized Epilepsy With Febrile Seizures Plus Type 6
Febrile Seizures, Familial, 7	FEB7 Febrile Convulsions, Familial, 7 Familial Febrile Seizures 7 Familial Febrile Convulsions 7
Febrile Seizures, Familial, 9	FEB9 Febrile Convulsions, Familial, 9 Familial Febrile Seizures 9 Familial Febrile Convulsions 9
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Polymicrogyria, Bilateral Frontoparietal	Bilateral Frontoparietal Polymicrogyria BFPP Cerebellar Ataxia With Neuronal Migration Defect
Deafness, Autosomal Recessive 23	DFNB23 Autosomal Recessive Nonsyndromic Deafness 23 Autosomal Recessive Deafness 23 Deafness, Autosomal Recessive, 23 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 Deafness, Autosomal Recessive, Type 23
Familial Adenomatous Polyposis 1	Gardner Syndrome Brain Tumor-Polyposis Syndrome 2 Familial Polyposis Of The Colon Adenomatous Polyposis Coli FAP1 Adenomatous Polyposis Of The Colon Apc Fpc Gardner'S Syndrome Polyposis, Adenomatous Intestinal Adenoma, Periampullary, Somatic Intestinal Polyposis, Osteomas, Sebaceous Cysts Polyposis Coli And Multiple Hard And Soft Tissue Tumors Apc-Related Attenuated Familial Adenomatous Polyposis Apc-Related Afap Apc-Related Attenuated Fap Apc-Related Attenuated Familial Polyposis Coli Turcot Syndrome With Polyposis Gardners Syndrome Adenomatous Polyposis Coli, Susceptibility To Adenomatous Polyposis, Familial, Type 1
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Generalized Epilepsy With Febrile Seizures Plus, Type 7	Febrile Seizures, Familial, 3b GEFSP7 GEFS+7 Generalized Epilepsy With Febrile Seizures Plus 7 Gefs+, Type 7 Generalised Epilepsy With Febrile Seizures Plus 7 Generalised Epilepsy With Febrile Seizures Plus Type 7 Generalized Epilepsy With Febrile Seizures Plus Type 7 FEB3B Familial Febrile Convulsions 3 Gefs+ Type 7 Epilepsy, Generalized, With Febrile Seizures Plus, Type 7 Generalized Epilepsy With Febrile Seizures Plus, 7
Deafness, Autosomal Recessive 2	DFNB2 Neurosensory Nonsyndromic Recessive Deafness 2 Nsrd2 Autosomal Recessive Nonsyndromic Deafness 2 Deafness, Autosomal Recessive, Type 2 Autosomal Recessive Deafness 2 Deafness, Autosomal Recessive, 2 Deafness Neurosensory Autosomal Recessive 2 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 Deafness, Autosomal Recessive 2, Neurosensory
Vibratory Urticaria	Vibratory Angioedema Dermodistortive Urticaria VBU Ddu Angioedema, Vibratory
Epilepsy, Familial Temporal Lobe, 1	ETL1 Adpeaf Adlte Epilepsy, Partial, With Auditory Features Autosomal Dominant Partial Epilepsy With Auditory Features Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Familial Temporal Lobe Epilepsy 1 Partial Epilepsy With Auditory Features Autosomal Dominant Lateral Temporal Lobe Epilepsy Lateral Temporal Lobe Epilepsy Autosomal Dominant Epilepsy, Temporal Lobe, Familial, Type 1
Reflex Epilepsy	Epilepsy, Reflex Epilepsy, Sensory-Induced Epilepsy Reflex
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Eye Degenerative Disease
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00365	ADGRV1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ADGRV1	RGD	RGD:1562101
Canis familiaris	ADGRV1	VGNC	VGNC:37654
Mus musculus	ADGRV1	MGD	MGI:1274784
Bos taurus	ADGRV1	VGNC	VGNC:25673
Macaca mulatta	ADGRV1	VGNC	VGNC:69625
Felis catus	ADGRV1	VGNC	VGNC:97341
Others	ADGRV1	NCBI