Free for academic non-profit institutions. Other users need a Commercial license

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 Retinitis Pigmentosa 47 and Oguchi Disease 1. Among its related pathways are Ca, cAMP and Lipid Signaling and Phototransduction. 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 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

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

GeneHancer (GH) Regulatory Elements for SAG Gene

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 0.5 EPDnew 650.7 +3.6 3561 0.1 SAG ENSG00000259793
GH02J233348 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 +50.1 50074 11.5 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 DGKD ENSG00000259793 ATG16L1 USP40 SAG SCARNA5 GIGYF2 SCARNA6 INPP5D
GH02J233412 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.6 +117.5 117473 18.4 PKNOX1 CLOCK FOXA2 ARNT SIN3A FOS KLF13 REST ZNF592 SMARCA4 DGKD USP40 SAG ATG16L1 SCARNA6 SCARNA5 INPP5D LOC105373929 PIR59405 ENSG00000201013
GH02J233384 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.6 +82.5 82497 5.3 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 RUNX3 NFKBIZ RXRA DGKD ATG16L1 USP40 SAG SCARNA5 SCARNA6 ENSG00000201013 GC02M233380 PIR59405
GH02J233330 Enhancer 1.1 Ensembl ENCODE dbSUPER 12 +28.2 28246 3.2 MAX STAT5A ZBTB40 IRF4 YY1 EGR1 POLR2A EED ZNF143 ATF7 DGKD ATG16L1 SAG SCARNA6 SCARNA5 ENSG00000259793
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SAG Gene

Genomic Locations for SAG Gene
chr2:233,304,300-233,347,055
(GRCh38/hg38)
Size:
42,756 bases
Orientation:
Plus strand
chr2:234,216,309-234,255,701
(GRCh37/hg19)
Size:
39,393 bases
Orientation:
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:
    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:

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: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 Sag<tm1Jnc>
  • Sag Sag<tm1a(EUCOMM)Wtsi>

Animal Model Products

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 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
nucleus 3
endosome 3
extracellular 2
cytoskeleton 2
lysosome 2
golgi apparatus 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 IDA 3720866
GO:0001917 photoreceptor inner segment IEA --
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

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:0016056 rhodopsin mediated signaling pathway TAS 2550422
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
GO:0032515 negative regulation of phosphoprotein phosphatase activity IEA --
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 Approved 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: -
SP9:

Relevant External Links for SAG Gene

GeneLoc Exon Structure for
SAG
ECgene alternative splicing isoforms for
SAG

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, MaxQB, and MOPED for SAG Gene



NURSA nuclear receptor signaling pathways regulating expression of SAG Gene:

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(2.5)
  • Blood(2.3)
  • Kidney(2.2)
  • Heart(2.1)
  • Muscle(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

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 34 33
  • 99.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SAG 34 33
  • 87.76 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sag 33
  • 86.68 (n)
mouse
(Mus musculus)
Mammalia Sag 16 34 33
  • 86.18 (n)
cow
(Bos Taurus)
Mammalia SAG 34 33
  • 86.07 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SAG 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SAG 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves SAG 34 33
  • 70.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SAG 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sag 33
  • 70.22 (n)
MGC75721 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398109 33
zebrafish
(Danio rerio)
Actinopterygii saga 34 33
  • 63.4 (n)
OneToMany
sagb 34
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Arr1 34 35
  • 42 (a)
ManyToMany
krz 34
  • 41 (a)
ManyToMany
Arr2 34 35
  • 40 (a)
ManyToMany
CG32683 34
  • 15 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea arr-1 34
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10346 34
  • 48 (a)
OneToMany
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

ENSEMBL:
Gene Tree for SAG (if available)
TreeFam:
Gene Tree for SAG (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SAG: view image

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 from dbSNP and Humsavar for SAG Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1046974 benign, not specified, Retinitis Pigmentosa, Recessive, Oguchi's disease 233,346,901(+) G/A/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1046976 benign, Retinitis Pigmentosa, Recessive, Oguchi's disease 233,346,902(+) T/C 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs115857633 likely-benign, benign, not provided, not specified 233,320,698(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant
rs140569105 uncertain-significance, Oguchi's disease, Retinitis Pigmentosa, Recessive 233,307,828(+) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs141521563 benign, uncertain-significance, likely-benign, not specified, Oguchi's disease, Retinitis Pigmentosa, Recessive, not provided 233,320,749(+) G/A 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, upstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 47
  • rp47
oguchi disease 1
  • night blindness, congenital stationary, oguchi type 1; csnbo1
hereditary night blindness
  • congenital night blindness
retinitis pigmentosa
  • retinitis pigmentosa 1
retinal vasculitis
- 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 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.

Additional Disease Information for SAG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 44 58
  2. Robust self-association is a common feature of mammalian visual arrestin-1. (PMID: 21288033) Kim M … Gurevich VV (Biochemistry 2011) 3 4 58
  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 58
  4. Mapping of transcription start sites of human retina expressed genes. (PMID: 17286855) Roni V … Wissinger B (BMC genomics 2007) 3 4 58
  5. Structure and function of the visual arrestin oligomer. (PMID: 17332750) Hanson SM … Gurevich VV (The EMBO journal 2007) 3 22 58

Products for SAG Gene

Sources for SAG Gene

Content
Loading form....