SAG (S-antigen visual arrestin)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6295
Gene name Gene Name - the full gene name approved by the HGNC.
S-antigen visual arrestin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SAG
Synonyms (NCBI Gene) Gene synonyms aliases
RP47, RP96, S-AG
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez 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 si
SNPs SNP information provided by dbSNP.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT017146 hsa-miR-335-5p Microarray 18185580
MIRT019260 hsa-miR-148b-3p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
181031 10521 ENSG00000130561
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Oguchi Disease oguchi disease, Oguchi disease-2 rs587776778, rs201153410, rs397514681, rs397514682, rs587777209, rs1574942567 N/A
retinal dystrophy Retinal dystrophy rs753107507, rs587776778, rs201086679, rs201153410 N/A
Retinitis Pigmentosa retinitis pigmentosa rs748204331, rs1233480483 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cone Dystrophy cone dystrophy N/A N/A ClinVar
Crohn Disease Crohn's disease N/A N/A GWAS
Diabetes Mild obesity-related type 2 diabetes N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease 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