SAG - S-antigen visual arrestin Gene

Also Known as RP47; S-AG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6295

About SAG

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:233,307,816-233,347,055 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 259 orthologues, 3 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

Summary

Members of Arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as Hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]

SAG Products (1)

mRNA	Protein	Name
NM_000541.5	NP_000532.2	S-arrestin

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in photoreceptor outer segment	IDA IDA: Inferred from direct assay	3720866	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

SAG Protein Structure

Arrestin_N

Arrestin_C

0
100
200
300
405 a.a.

Protein Preferred Names	Protein Names
S-arrestin	48 kDa protein

SAG Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SAG	P10523	CLK3	Homo sapiens	P49761	Validated Y2H	32296183
Intra	SAG	P10523	CLK3	Homo sapiens	P49761	Y2H Array	32296183
Intra	SAG	P10523	CLK3	Homo sapiens	P49761	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SAG Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71781	SAG Protein, Human (P.pastoris, His)	P10523 (M1-E405)	≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Retinitis Pigmentosa 47	RP47 Retinitis Pigmentosa, Type 47
Oguchi Disease 1	Oguchi Disease-1 CSNBO1 Night Blindness, Congenital Stationary, Oguchi Type 1 Congenital Stationary Night Blindness Oguchi Type 1 Oguchi Disease
Oguchi Disease	Stationary Night Blindness, Oguchi Type Congenital Stationary Night Blindness, Oguchi Type Oguchi Syndrome Oguchis Disease
Oguchi Disease 2	Oguchi Disease-2 CSNBO2 Night Blindness, Congenital Stationary, Oguchi Type 2 Congenital Stationary Night Blindness Oguchi Type 2
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
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
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Uveitis
Night Blindness	Nyctalopia
Retinal Vasculitis
Posterior Uveitis	Uveitis, Posterior Choroiditis Uveitis Posterior
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Eales Disease	Idiopathic Obliterative Vasculopathy Idiopathic Recurrent Vitreal Hemorrhage Idiopathic Retinal Perivasculitis Idiopathic Retinal Vasculitis
Chorioretinitis	Retinochoroiditis
Pineoblastoma	Pineal Pnet Pinealoma Pineal Gland Neoplasm Pineocytoma Tumor Of The Pineal Region
Pineocytoma	Pinealoma Pinealocytoma Pineal Gland Neoplasm Tumor Of The Pineal Region
Retinal Degeneration	Degeneration Of Retina
Focal Chorioretinitis
Autoimmune Disease Of Eyes, Ear, Nose And Throat
Sympathetic Ophthalmia	Sympathetic Uveitis Ophthalmia, Sympathetic Sympathetic Iridocyclitis Sympathetic Endophthalmitis
Nephrogenic Syndrome Of Inappropriate Antidiuresis	NSIAD
Autoimmune Uveitis
Whim Syndrome 1	Whim Syndrome Whims Warts, Hypogammaglobulinemia, Infections, And Myelokathexis WHIMS1 Warts-Hypogammaglobulinemia-Infections-Myelokathexis Syndrome Warts, Hypogammaglobulinemia, Infections, And Myelokathexis Syndrome 1 Myelokathexis, Isolated Wilm Warts-Infections-Leukopenia-Myelokatexis Syndrome Warts, Hypogammaglobulinemia, Infections And Myelokathexis Syndrome 1
Panophthalmitis
Behcet Syndrome	Behcet Disease Behcet'S Syndrome Behcet'S Disease Behçet Disease Bd Adamantiades-Behcet Disease Triple Symptom Complex Behçet'S Disease Behet'S Syndrome Bd Syndrome Behçet Syndrome Behçet'S Syndrome Behcet Triple Symptom Complex Malignant Aphthosis Old Silk Route Disease Adamantiades-Behçet Disease
Myasthenic Syndrome, Congenital, 3a, Slow-Channel	Congenital Myasthenic Syndrome 3a CMS3A Congenital Myasthenic Syndrome 3a, Slow-Channel Myasthenic Syndrome, Congenital, Type 3a, Slow-Channel
Diabetes Insipidus
Retinoblastoma	RB Trilateral Retinoblastoma RB1 Retinoblastoma, Trilateral Neuroblastoma Of Retina Rb - Retinoblastoma Eye Cancer, Retinoblastoma Retinal Cancer Retinal Tumor Glioma, Retinal Non-Hereditary Retinoblastoma Childhood Cancer Retinoblastoma Malignant Neoplasm Of Retina Retinal Neoplasms
Autoimmune Disease	Autoimmune Diseases Autoimmune Hypersensitivity Disease Hypersensitivity Reaction Type Ii Disease Type Ii Hypersensitivity Reaction Disease
Birdshot Chorioretinopathy	Birdshot Chorioretinitis Bscr Birdshot Retinochoroiditis Birdshot Retinochoroidopathy Vitiliginous Choroiditis Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around The Optic Disk
Endophthalmitis
Cerebellar Medulloblastoma
Panuveitis	Diffuse Uveitis Total Uveitis Inflammation Of The Whole Uveal Tract
Opioid Abuse	Opioid-Related Disorders
Purulent Endophthalmitis	Periocular Infection Acute Endophthalmitis Endophthalmia Eye Infestation Nos Intraocular Infection Eye Infection Nos
Bardet-Biedl Syndrome 5	BBS5 Bardet-Biedl Syndrome, Type 5
Pain Agnosia	Analgesia
Uveal Disease	Uveal Diseases
Agnosia	Dyspraxia Primary Visual Agnosia Dyspraxia Syndrome Monomodal Visual Amnesia Visual Amnesia Agnosia, Primary Visual Apraxias Alexia
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Pars Planitis	Posterior Cyclitis Vitritis Intermediate Uveitis Peripheral Retinal Inflammation Uveitis, Intermediate
Choroiditis	Posterior Uveitis
Vogt-Koyanagi-Harada Disease	Uveomeningoencephalitic Syndrome Uveomenigitic Syndrome Vogt-Koyanagi-Harada Syndrome Harada'S Disease Vogt-Koyanagi Syndrome Vkh Disease Vkh Syndrome Vkh
Neuroretinitis	Juxtapapillary Focal Retinitis And Retinochoroiditis Retinitis Focal Retinitis And Retinochoroiditis, Juxtapapillary Papilloretinitis
Pineal Gland Cancer	Tumor Of The Pineal Region Malignant Pineal Region Tumor Malignant Tumor Of Pineal Gland Neoplasm Of Pineal Gland Neoplasm Of The Pineal Region Pineal Body Neoplasm Pineocytic Tumor Malignant Neoplasm Of Pineal Gland Pineal Gland Neoplasm Pineocytoma
Prader-Willi Syndrome	Prader-Labhart-Willi Syndrome PWS Willi-Prader Syndrome Prader-Willi Syndrome Due To Translocation Prader-Willi Syndrome Due To Imprinting Mutation Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 Prader Willi Syndrome Upd(15)Mat
Anterior Uveitis	Iridocyclitis Uveitis, Anterior Acute Anterior Uveitis Uveokeratitis Keratouveitis Cyclitis Intraocular Inflammation Kerato-Uveitis Keratoiritis Iritis Uveitis Nos Uveal Inflammation Anterior Chamber Cell
Sveinsson Chorioretinal Atrophy	SCRA Atrophia Areata Helicoid Peripapillary Chorioretinal Degeneration Hpcd Aa Peripapillary Chorioretinal Degeneration, Icelandic Type Helicoidal Peripapillary Chorioretinal Degeneration Atrophy, Chorioretinal, Sveinsson
Abnormal Threshold Of Rods	Abnormal Dark Adaptation Curve
Ocular Cancer	Eye Neoplasm Eye Carcinoma Eye Cancer Eye Neoplasms Malignant Eye Neoplasm Neoplasm Of Eye Neoplasm Of Eye Proper Ocular Tumor Carcinoma Of Eye Ocular Carcinoma Malignant Tumor Of Eye
Nephrogenic Diabetes Insipidus	Vasopressin-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic Diabetes Insipidus Nephrogenic Congenital Nephrogenic Diabetes Insipidus Adh Resistant Diabetes Insipidus Diabetes Insipidus Nephrogenic X-Linked Diabetes Insipidus Nephrogenic Type 1 Adh-Resistant Diabetes Insipidus Diabetes Insipidus Renalis Ndi Renal Diabetes Insipidus Familial Nephrogenic Diabetes Antidiuretic-Hormone-Resistant Diabetes Insipidus Adiuretin-Resistant Diabetes Insipidus Ndi - [Nephrogenic Diabetes Insipidus] Diabetes Tenuifluus Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus Hereditary Nephrogenic Diabetes Insipidus Familial Nephrogenic Diabetes Insipidus Primary Nephrogenic Diabetes Insipidus
Eye Degenerative Disease
Esophageal Adenosquamous Carcinoma
Malignant Secondary Hypertension
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Constipation
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
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
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Migraine With Or Without Aura 1	Migraine Migraine With Or Without Aura, Susceptibility To, 1 Migraine Disorder Migraine Variant Migraines Migraine Disorders Mgr1 Mgau Ma Migraine With Or Without Aura Classic Migraine Common Migraine Disorder, Migraine Headache Migraine Headache Migrainous Migraine Headache Migraine Syndrome Headache Including Migraine Migraine, Susceptibility To
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-18542	KT195	Inhibitor	/	Phase 1

Pre-clinical Phase

Bioactive Molecules (22)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12848	SAG	Agonist	99.79%	Unkown
HY-12848B	SAG hydrochloride	Agonist	99.91%	Unkown
HY-12848C	SAG dihydrochloride	Agonist	98.23%	Unkown
HY-117771	DO34	Inhibitor	99.30%	Unkown
HY-B0633C	Hyaluronic acid (Mw:1000-2000Da)		/	Unkown
HY-124899	Hh-Ag1.5	Agonist	99.90%	Unkown
HY-163455	pan-HCN-IN-1	Inhibitor	99.84%	Unkown
HY-157993	SAG-524	Inhibitor	98.50%	Unkown
HY-12848R	SAG (Standard)	Agonist	99.56%	Unkown
HY-110240	IHR-1	Antagonist	98.05%	Unkown
HY-117771A	DO34 analog	Inhibitor	98.42%	Unkown
HY-RS12096	RNF7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-12848A	(Rac)-SAG	Agonist	/	Unkown
HY-12848S	SAG-d3	Inhibitor	99.85%	Unkown
HY-182641	SAG analog (cis-isomer)	Activator	/	Unkown
HY-D3314	1-NBD-Stearoyl-2-arachidonoyl-sn-glycerol	Substrate	/	Unkown
HY-N15152	Isoaesculioside D		/	Unkown
HY-RS03820	DMBT1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12415	SAG Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-12848G	SAG (GMP)	Agonist	/	Unkown
HY-RS16512	Sag Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22944	Sag Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown