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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-AG 3 4
  • Retinal S-Antigen (48 KDa Protein) 3
  • Retinal S-Antigen 4
  • S-Arrestin 3
  • RP47 3

External Ids for SAG Gene

Previous GeneCards Identifiers for SAG Gene

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

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 Oguchi Disease-1 and Retinitis Pigmentosa 47. Among its related pathways are Phototransduction and Visual Cycle in Retinal Rods. GO annotations related to this gene include phosphoprotein binding and opsin binding. An important paralog of this gene is ARRB1.

UniProtKB/Swiss-Prot for SAG Gene

  • Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase.

Gene Wiki entry for SAG Gene

Additional gene information for SAG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SAG Gene

Genomics for SAG Gene

Regulatory Elements for SAG Gene

Enhancers for SAG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H233412 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +117.5 117474 18.4 PKNOX1 FOXA2 ATF1 ARNT SIN3A TCF12 GLIS2 ATF7 FOS RUNX3 USP40 SAG ATG16L1 DGKD SCARNA6 SCARNA5 INPP5D LOC105373929 PIR59405 GC02M233380
GH02H233384 1.5 Ensembl ENCODE dbSUPER 10.6 +82.5 82498 5.3 FOXA2 MLX ARID4B DMAP1 YY1 RUNX3 SP5 MXD4 NFYC REST DGKD ATG16L1 USP40 SAG SCARNA5 SCARNA6 ENSG00000201013 GC02M233380 PIR59405
GH02H233355 1.3 FANTOM5 ENCODE dbSUPER 11.3 +53.3 53273 5.1 ARID4B SIN3A DMAP1 RAD21 GATA3 ZBTB48 POLR2A RUNX3 EZH2 CEBPB ATG16L1 USP40 SAG SCARNA5 DGKD INPP5D ENSG00000201013 GC02M233380
GH02H233330 1.2 Ensembl ENCODE dbSUPER 11.9 +28.2 28246 3.2 TBL1XR1 MAX ZBTB40 POLR2A EED ZNF143 ATF7 ETV6 RUNX3 IKZF2 DGKD ATG16L1 SAG SCARNA6 SCARNA5 ENSG00000259793
GH02H233399 1.1 Ensembl ENCODE dbSUPER 10.2 +95.9 95879 1.8 ZFHX2 MAX NR3C1 ZIC2 MYC ZKSCAN1 SCARNA5 ATG16L1 SAG USP40 DGKD ENSG00000201013 GC02M233380 PIR59405
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SAG on UCSC Golden Path with GeneCards custom track

Genomic Locations for SAG Gene

Genomic Locations for SAG Gene
42,756 bases
Plus strand

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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A0FDN6
    • Q53SV3
    • Q99858

    Protein attributes for SAG Gene

    405 amino acids
    Molecular mass:
    45120 Da
    Quaternary structure:
    • Monomer. Homodimer. Homotetramer.
    • Arrestin binds calcium.

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

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:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the arrestin 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

GENATLAS Biochemistry:
S-antigen (48kDa),Ca2+ binding,P-rhodopsin inhibitory binding protein (arrestin),retina and pineal gland,cofactor of rhodopsin kinase
UniProtKB/Swiss-Prot Function:
Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of phosphodiesterase.

Phenotypes From GWAS Catalog for SAG Gene

Gene Ontology (GO) - Molecular Function for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002046 opsin binding IEA --
GO:0004864 protein phosphatase inhibitor activity TAS 2550422
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 tm1Jnc
  • Sag tm1a(EUCOMM)Wtsi

miRNA for SAG Gene

miRTarBase miRNAs that target SAG

Clone Products

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

Localization for SAG Gene

Subcellular locations from

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
nucleus 3
extracellular 2
cytoskeleton 2
lysosome 2
golgi apparatus 2
endosome 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0001917 photoreceptor inner segment IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SAG: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and 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

Gene Ontology (GO) - Biological Process for SAG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway TAS 7670478
GO:0007601 visual perception IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
B27PD Pharma 0

(20) 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

Unigene Clusters for SAG Gene

S-antigen; retina and pineal gland (arrestin):
Representative Sequences:

Clone Products

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: -

Relevant External Links for SAG Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SAG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SAG Gene

NURSA nuclear receptor signaling pathways regulating expression of SAG Gene:


SOURCE GeneReport for Unigene cluster for SAG Gene:


mRNA Expression by UniProt/SwissProt for SAG Gene:

Tissue specificity: Retina and pineal gland.

Evidence on tissue expression from TISSUES for SAG Gene

  • Eye(4.9)
  • Nervous system(2.5)
  • Blood(2.3)
  • Kidney(2.2)
  • Heart(2.1)
  • Muscle(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
  • penis
  • testicle
  • 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

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
(Pan troglodytes)
Mammalia SAG 33 34
  • 99.26 (n)
(Canis familiaris)
Mammalia SAG 33 34
  • 87.76 (n)
(Rattus norvegicus)
Mammalia Sag 33
  • 86.68 (n)
(Mus musculus)
Mammalia Sag 33 16 34
  • 86.18 (n)
(Bos Taurus)
Mammalia SAG 33 34
  • 86.07 (n)
(Ornithorhynchus anatinus)
Mammalia SAG 34
  • 79 (a)
(Monodelphis domestica)
Mammalia SAG 34
  • 78 (a)
(Gallus gallus)
Aves SAG 33 34
  • 70.93 (n)
(Anolis carolinensis)
Reptilia SAG 34
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sag 33
  • 70.22 (n)
MGC75721 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398109 33
(Danio rerio)
Actinopterygii saga 33 34
  • 63.4 (n)
sagb 34
  • 55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Arr1 35 34
  • 42 (a)
krz 34
  • 41 (a)
Arr2 35 34
  • 40 (a)
CG32683 34
  • 15 (a)
(Caenorhabditis elegans)
Secernentea arr-1 34
  • 39 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10346 34
  • 48 (a)
Species where no ortholog for SAG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Gene Tree for SAG (if available)
Gene Tree for SAG (if available)

Paralogs for SAG Gene

Paralogs for SAG Gene

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

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

Variants for SAG Gene

Sequence variations from dbSNP and Humsavar for SAG Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs201153410 Pathogenic 233,328,542(+) AGCCC(C/T)GAGCT nc-transcript-variant, reference, stop-gained
rs397514681 Pathogenic 233,335,029(+) ACAAT(C/G/T)GAGAA nc-transcript-variant, reference, missense, stop-gained
rs397514682 Pathogenic 233,335,071(+) AGCAC(G/T)AGGAC nc-transcript-variant, reference, stop-gained
rs587776778 Pathogenic 233,335,081(+) CACAA(-/A)CCTTG nc-transcript-variant, reference, frameshift-variant
rs587777209 Pathogenic 233,328,488(+) CCGTG(C/T)GATTA nc-transcript-variant, reference, stop-gained

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

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

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)

Relevant External Links for SAG Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SAG Gene

MalaCards: The human disease database

(34) MalaCards diseases for SAG Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oguchi disease-1
  • congenital stationary night blindness oguchi type 1
retinitis pigmentosa 47
  • rp47
hereditary night blindness
  • congenital night blindness
congenital stationary night blindness
  • congenital essential nyctalopia
sag-related retinitis pigmentosa
- elite association - COSMIC cancer census association via MalaCards
Search SAG in MalaCards View complete list of genes associated with diseases


  • 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 mutations 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 mutations affecting the gene represented in this entry.

Relevant External Links for SAG

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SAG: view

No data available for Genatlas for SAG Gene

Publications for SAG Gene

  1. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PMID: 20801516) Booij JC … Florijn RJ (Ophthalmology 2011) 3 45 60
  2. Robust self-association is a common feature of mammalian visual arrestin-1. (PMID: 21288033) Kim M … Gurevich VV (Biochemistry 2011) 3 4 60
  3. In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases. (PMID: 18175313) Mokarzel-Falcón L … Montero-Cabrera LA (Proteins 2008) 3 22 60
  4. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V … Wissinger B (BMC genomics 2007) 3 4 60
  5. Structure and function of the visual arrestin oligomer. (PMID: 17332750) Hanson SM … Gurevich VV (The EMBO journal 2007) 3 22 60

Products for SAG Gene

Sources for SAG Gene

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