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 t... See more...

Aliases for SAG Gene

Aliases for SAG Gene

  • S-Antigen Visual Arrestin 2 3 5
  • S-Antigen; Retina And Pineal Gland (Arrestin) 2 3
  • Rod Photoreceptor Arrestin 3 4
  • 48 KDa Protein 3 4
  • Rod Arrestin 2 3
  • Arrestin 1 2 3
  • S-Arrestin 3 4
  • RP47 2 3
  • S-AG 3 4
  • Retinal S-Antigen (48 KDa Protein) 3
  • Retinal S-Antigen 4
  • ARRESTIN 2
  • SAG 5

External Ids for SAG Gene

Previous GeneCards Identifiers for SAG Gene

  • GC02P232224
  • GC02P232898
  • GC02P234232
  • GC02P234503
  • GC02P233998
  • GC02P233881
  • GC02P226017
  • GC02P234234
  • GC02P234240
  • GC02P234247
  • GC02P234260
  • GC02P233309
  • GC02P233311
  • GC02P233315

Summaries for SAG Gene

Entrez Gene Summary for SAG Gene

  • 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]

GeneCards Summary for SAG Gene

SAG (S-Antigen Visual Arrestin) is a Protein Coding gene. Diseases associated with SAG include Retinitis Pigmentosa 47 and Oguchi Disease 1. Among its related pathways are Signaling by GPCR and Visual Cycle in Retinal Rods. Gene Ontology (GO) annotations related to this gene include phosphoprotein binding and opsin binding. An important paralog of this gene is ARRB1.

UniProtKB/Swiss-Prot Summary for SAG Gene

  • Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049).

Gene Wiki entry for SAG Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SAG Gene

Genomics for SAG Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SAG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J233307 Promoter 0.3 EPDnew 250.7 +0.0 45 0.1 SAG NONHSAG030816.2 HSALNG0023085 DGKD
GH02J233348 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +46.6 46558 11.5 ZNF207 NCOR1 IKZF1 ZNF600 JUND KLF9 POLR2A ZIC2 CHD4 YY1 DGKD ENSG00000259793 ATG16L1 USP40 SAG SCARNA5 GIGYF2 SCARNA6 INPP5D
GH02J233412 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 +114.0 113957 18.4 SP1 ZNF600 MYC NCOR1 JUND ZNF592 ZIC2 BCL11A CEBPB MBD2 DGKD USP40 SAG ATG16L1 SCARNA6 SCARNA5 INPP5D ENSG00000237126 lnc-SAG-6 HSALNG0023088
GH02J233384 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +79.0 78981 5.3 CEBPA ATF3 CHD4 YY1 REST THAP11 FOXA2 KDM6A SMAD4 RXRA DGKD HSALNG0023088 ATG16L1 USP40 SAG SCARNA5 SCARNA6 lnc-SAG-6
GH02J233330 Promoter/Enhancer 1.2 Ensembl ENCODE dbSUPER 12 +24.7 24730 3.2 YY1 GABPA IRF4 CBFB MAX BHLHE40 SPI1 MYC POLR2A ELF1 DGKD ATG16L1 SAG SCARNA6 SCARNA5 HSALNG0023086 HSALNG0023085
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SAG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SAG

Top Transcription factor binding sites by QIAGEN in the SAG gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • GR
  • GR-alpha

Genomic Locations for SAG Gene

Latest Assembly
chr2:233,307,816-233,347,066
(GRCh38/hg38)
Size:
39,251 bases
Orientation:
Plus strand

Previous Assembly
chr2:234,216,462-234,255,701
(GRCh37/hg19 by Entrez Gene)
Size:
39,240 bases
Orientation:
Plus strand

chr2:234,216,462-234,255,701
(GRCh37/hg19 by Ensembl)
Size:
39,240 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr2(PATCHES):253,154-292,393 (+)

Genomic View for SAG Gene

Genes around SAG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SAG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SAG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SAG Gene

Proteins for SAG Gene

  • Protein details for SAG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10523-ARRS_HUMAN
    Recommended name:
    S-arrestin
    Protein Accession:
    P10523
    Secondary Accessions:
    • A0FDN6
    • Q53SV3
    • Q99858

    Protein attributes for SAG Gene

    Size:
    405 amino acids
    Molecular mass:
    45120 Da
    Quaternary structure:
    • Monomer. Homodimer. Homotetramer (PubMed:21288033). Interacts with RHO (via the phosphorylated C-terminus) (PubMed:26200343, PubMed:28753425).

neXtProt entry for SAG Gene

Post-translational modifications for SAG Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SAG Gene

Domains & Families for SAG Gene

Gene Families for SAG Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for SAG Gene

Suggested Antigen Peptide Sequences for SAG Gene

GenScript: Design optimal peptide antigens:
  • S-antigen (A0FDN6_HUMAN)
  • Rod photoreceptor arrestin (ARRS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10523

UniProtKB/Swiss-Prot:

ARRS_HUMAN :
  • The C-terminus interferes with binding to non-phosphorylated RHO. Interaction with phosphorylated RHO triggers displacement of the C-terminus and leads to a conformation change that mediates high-affinity RHO binding.
  • Belongs to the arrestin family.
Domain:
  • The C-terminus interferes with binding to non-phosphorylated RHO. Interaction with phosphorylated RHO triggers displacement of the C-terminus and leads to a conformation change that mediates high-affinity RHO binding.
Family:
  • Belongs to the arrestin family.
genes like me logo Genes that share domains with SAG: view

Function for SAG Gene

Molecular function for SAG Gene

UniProtKB/Swiss-Prot Function:
Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049).
GENATLAS Biochemistry:
S-antigen (48kDa),Ca2+ binding,P-rhodopsin inhibitory binding protein (arrestin),retina and pineal gland,cofactor of rhodopsin kinase

Phenotypes From GWAS Catalog for SAG Gene

Gene Ontology (GO) - Molecular Function for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IBA 21873635
GO:0002046 opsin binding IEA --
GO:0004864 protein phosphatase inhibitor activity TAS 2550422
GO:0005515 protein binding IPI 32296183
GO:0051219 phosphoprotein binding IEA --
genes like me logo Genes that share ontologies with SAG: view
genes like me logo Genes that share phenotypes with SAG: view

Human Phenotype Ontology for SAG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SAG Gene

MGI Knock Outs for SAG:
  • Sag Sag<tm1Jnc>
  • Sag Sag<tm1a(EUCOMM)Wtsi>

miRNA for SAG Gene

miRTarBase miRNAs that target SAG

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAG

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SAG Gene

Localization for SAG Gene

Subcellular locations from UniProtKB/Swiss-Prot for SAG Gene

Cell projection, cilium, photoreceptor outer segment. Membrane. Peripheral membrane protein. Note=Highly expressed in photoreceptor outer segments in light-exposed retina. Evenly distributed throughout rod photoreceptor cells in dark-adapted retina (By similarity). Predominantly dectected at the proximal region of photoreceptor outer segments, near disk membranes (PubMed:3720866). {ECO:0000250 UniProtKB:P08168, ECO:0000269 PubMed:3720866}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SAG gene
Compartment Confidence
cytosol 5
plasma membrane 3
extracellular 3
nucleus 3
endosome 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IBA,IDA 3720866
GO:0001917 photoreceptor inner segment IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with SAG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SAG Gene

Pathways & Interactions for SAG Gene

genes like me logo Genes that share pathways with SAG: view

Pathways by source for SAG Gene

1 Qiagen pathway for SAG Gene
  • Visual Cycle in Retinal Rods
2 Cell Signaling Technology pathways for SAG Gene

Gene Ontology (GO) - Biological Process for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002031 G protein-coupled receptor internalization IBA 21873635
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway TAS 7670478
GO:0016056 rhodopsin mediated signaling pathway TAS 2550422
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with SAG: view

No data available for SIGNOR curated interactions for SAG Gene

Drugs & Compounds for SAG Gene

(25) Drugs for SAG Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
B27PD Investigational Pharma 0
Calcium Nutra 6959

(18) Additional Compounds for SAG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SAG: view

Transcripts for SAG Gene

mRNA/cDNA for SAG Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SAG

Alternative Splicing Database (ASD) splice patterns (SP) for SAG Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13
SP1: - - -
SP2: - -
SP3: -
SP4: -
SP5: - - -
SP6: - -
SP7: -
SP8: -
SP9:

Relevant External Links for SAG Gene

GeneLoc Exon Structure for
SAG

Expression for SAG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SAG Gene

mRNA differential expression in normal tissues according to GTEx for SAG Gene

This gene is overexpressed in Testis (x17.2), Brain - Nucleus accumbens (basal ganglia) (x15.1), Brain - Caudate (basal ganglia) (x7.5), and Brain - Putamen (basal ganglia) (x6.3).

Protein differential expression in normal tissues from HIPED for SAG Gene

This gene is overexpressed in Retina (68.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SAG Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SAG

SOURCE GeneReport for Unigene cluster for SAG Gene:

Hs.32721

mRNA Expression by UniProt/SwissProt for SAG Gene:

P10523-ARRS_HUMAN
Tissue specificity: Detected in retina, in the proximal portion of the outer segment of rod photoreceptor cells (at protein level).

Evidence on tissue expression from TISSUES for SAG Gene

  • Eye(4.9)
  • Nervous system(2.9)
  • Blood(2.7)
  • Heart(2.6)
  • Muscle(2.6)
  • Kidney(2.4)
  • Liver(2.2)
  • Intestine(2.1)
  • Skin(2.1)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SAG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with SAG: view

Primer products for research

No data available for Protein tissue co-expression partners for SAG Gene

Orthologs for SAG Gene

This gene was present in the common ancestor of animals.

Orthologs for SAG Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SAG 29 30
  • 99.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SAG 29 30
  • 87.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sag 29
  • 86.68 (n)
Mouse
(Mus musculus)
Mammalia Sag 29 16 30
  • 86.18 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SAG 29 30
  • 86.07 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SAG 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SAG 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SAG 29 30
  • 70.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SAG 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sag 29
  • 70.22 (n)
MGC75721 29
African clawed frog
(Xenopus laevis)
Amphibia LOC398109 29
Zebrafish
(Danio rerio)
Actinopterygii saga 29 30
  • 63.4 (n)
OneToMany
sagb 30
  • 55 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Arr1 30 31
  • 42 (a)
ManyToMany
krz 30
  • 41 (a)
ManyToMany
Arr2 30 31
  • 40 (a)
ManyToMany
CG32683 30
  • 15 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea arr-1 30
  • 39 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10346 30
  • 48 (a)
OneToMany
Species where no ortholog for SAG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SAG Gene

ENSEMBL:
Gene Tree for SAG (if available)
TreeFam:
Gene Tree for SAG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAG: view image
Alliance of Genome Resources:
Additional Orthologs for SAG

Paralogs for SAG Gene

Paralogs for SAG Gene

(6) SIMAP similar genes for SAG Gene using alignment to 5 proteins:

  • ARRS_HUMAN
  • B7Z7L5_HUMAN
  • C9JSX4_HUMAN
  • E7ESX4_HUMAN
  • F8WCN5_HUMAN
genes like me logo Genes that share paralogs with SAG: view

Variants for SAG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SAG Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1001494 Uncertain Significance: not provided 233,320,710(+) T/C
NM_000541.5(SAG):c.262T>C (p.Tyr88His)
MISSENSE
1002944 Uncertain Significance: not provided 233,327,127(+) G/A
NM_000541.5(SAG):c.442G>A (p.Gly148Arg)
MISSENSE
1003589 Uncertain Significance: not provided 233,323,002(+) G/T
NM_000541.5(SAG):c.432G>T (p.Gly144=)
SYNONYMOUS
1007119 Uncertain Significance: not provided 233,318,764(+) G/T
NM_000541.5(SAG):c.150G>T (p.Leu50Phe)
MISSENSE
1007603 Uncertain Significance: not provided 233,316,098(+) A/C
NM_000541.5(SAG):c.99A>C (p.Arg33Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SAG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SAG Gene

Variant ID Type Subtype PubMed ID
dgv495n27 CNV loss 19166990
dgv7339n54 CNV loss 21841781
esv2678091 CNV deletion 23128226
esv3594673 CNV loss 21293372
nsv584699 CNV gain 21841781
nsv584700 CNV gain 21841781

Variation tolerance for SAG Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 74.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SAG Gene

Human Gene Mutation Database (HGMD)
SAG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SAG
Leiden Open Variation Database (LOVD)
SAG

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SAG Gene

Disorders for SAG Gene

MalaCards: The human disease database

(59) MalaCards diseases for SAG Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
retinitis pigmentosa 47
  • rp47
oguchi disease 1
  • night blindness, congenital stationary, oguchi type 1; csnbo1
oguchi disease
  • stationary night blindness, oguchi type
oguchi disease 2
  • night blindness, congenital stationary, oguchi type 2; csnbo2
cone dystrophy
  • retinal cone dystrophy
- elite association - COSMIC cancer census association via MalaCards
Search SAG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARRS_HUMAN
  • Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) [MIM:258100]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269 PubMed:7670478}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Retinitis pigmentosa 47 (RP47) [MIM:613758]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:9565049}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SAG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SAG: view

No data available for Genatlas for SAG Gene

Publications for SAG Gene

  1. Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (PMID: 9501883) Sippel KC … Dryja TP (Investigative ophthalmology & visual science 1998) 3 4 22
  2. Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. (PMID: 9020843) Yamamoto S … Dryja TP (Nature genetics 1997) 3 4 22
  3. A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. (PMID: 7670478) Fuchs S … Gal A (Nature genetics 1995) 3 4 72
  4. A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene. (PMID: 22419846) Huang L … Lu G (Molecular vision 2012) 3 72
  5. Robust self-association is a common feature of mammalian visual arrestin-1. (PMID: 21288033) Kim M … Gurevich VV (Biochemistry 2011) 3 4

Products for SAG Gene

Sources for SAG Gene