ADGRV1 - adhesion G protein-coupled receptor V1 Gene

Homo sapiens

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

Gene ID: 84059 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Related Agents

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 Sets	/	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