1. Gene
  2. SAG - S-antigen visual arrestin Gene

SAG - S-antigen visual arrestin Gene

Homo sapiens

Also known as RP47; S-AG

Gene ID: 6295 | Gene type: protein coding

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

SAG Protein Structure

Arrestin_N

Arrestin_N: Arrestin (or S-antigen), N-terminal domain (26 - 183)

Arrestin_C

Arrestin_C: Arrestin (or S-antigen), C-terminal domain (204 - 363)

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  • 405 a.a.
Protein Preferred Names Protein Names

S-arrestin

48 kDa protein

Recombinant SAG Proteins

Cat. No. Product Name Accession Purity
HY-P71781 SAG Protein, Human (P.pastoris, His) P10523 (M1-E405) ≥95%

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