SAG (S-antigen visual arrestin)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6295
Gene name S-antigen visual arrestin
Gene symbol SAG
Synonyms (NCBI Gene)
RP47RP96S-AG
Chromosome 2
Chromosome location 2q37.1
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 si
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs201153410 C>T Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs375593027 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs397514681 C>G,T Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs397514682 G>A,T Pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs587776778 A>- Pathogenic Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017146 hsa-miR-335-5p Microarray 18185580
MIRT019260 hsa-miR-148b-3p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IBA
GO:0001750 Component Photoreceptor outer segment IBA
GO:0001750 Component Photoreceptor outer segment IDA 3720866
GO:0001750 Component Photoreceptor outer segment IEA
GO:0001917 Component Photoreceptor inner segment IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
181031 10521 ENSG00000130561
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P10523
Protein name S-arrestin (48 kDa protein) (Retinal S-antigen) (S-AG) (Rod photoreceptor arrestin)
Protein 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 photorec
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00339 Arrestin_N 26 → 184 Arrestin (or S-antigen), N-terminal domain Domain
PF02752 Arrestin_C 203 → 364 Arrestin (or S-antigen), C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in retina, in the proximal portion of the outer segment of rod photoreceptor cells (at protein level). {ECO:0000269|PubMed:3720866}.
Sequence
Sequence length 405
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Phototransduction   Inactivation, recovery and regulation of the phototransduction cascade
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
199
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Oguchi disease Pathogenic rs587777209, rs587776778, rs201153410, rs397514681, rs397514682, rs1574942567, rs929766806 RCV000088649
RCV000013816
RCV000034821
RCV000034823
RCV000034824
RCV000987058
RCV001271101
Oguchi disease-1 Likely pathogenic; Pathogenic rs771810575, rs750740193, rs2469765655, rs766104513, rs201153410, rs397514681 RCV004796707
RCV005017027
RCV003991659
RCV003991812
RCV002272037
RCV001807748
Oguchi disease-2 Pathogenic rs201153410, rs1700648887 RCV001270292
RCV001264384
Retinal dystrophy Pathogenic; Likely pathogenic rs587776778, rs201153410, rs753107507, rs201086679 RCV003887859
RCV001073952
RCV001074355
RCV001074714
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Benign rs779561506 RCV005869680
Cone dystrophy Conflicting classifications of pathogenicity rs1484802068 RCV001199776
Retinitis Pigmentosa, Recessive Uncertain significance rs752812406, rs886055799 RCV000265282
RCV000327682
Show/Hide Text Mining Associations (33)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrodermatitis Associate 36497178
Autoimmune Diseases Stimulate 16030131
Behcet Syndrome Associate 18685727
Breast Neoplasms Associate 31926110
Carcinogenesis Associate 31926110
Carcinoma Hepatocellular Associate 31011256
Cone Rod Dystrophies Associate 29305604
Dermatitis Atopic Associate 24951827
Diabetes Mellitus Type 1 Associate 9244304
Diabetic Foot Associate 24951827