SAG (S-antigen visual arrestin)

Gene

• Entrez ID: 6295
• Gene name: S-antigen visual arrestin
• Gene symbol: SAG
• Synonyms (NCBI Gene): RP47, RP96, S-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 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
rs587777209	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1233480483	T>C,G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1324934886	C>G,T	Likely-pathogenic	5 prime UTR variant, non coding transcript variant, missense variant, coding sequence variant, stop gained
rs1574942567	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017146	hsa-miR-335-5p	Microarray	18185580
MIRT019260	hsa-miR-148b-3p	Microarray	17612493

Gene ontology (GO)

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
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0002031	Process	G protein-coupled receptor internalization	IBA
GO:0002046	Function	Opsin binding	IEA
GO:0004864	Function	Protein phosphatase inhibitor activity	TAS	2550422
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	7670478
GO:0007600	Process	Sensory perception	IBA
GO:0016020	Component	Membrane	IEA
GO:0016056	Process	G protein-coupled opsin signaling pathway	TAS	2550422, 7670478
GO:0030507	Function	Spectrin binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051219	Function	Phosphoprotein binding	IEA

Other IDs

• MIM: 181031
• HGNC: 10521
• e!Ensembl: ENSG00000130561

Protein

• 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:

  MAASGKTSKSEPNHVIFKKISRDKSVTIYLGNRDYIDHVSQVQPVDGVVLVDPDLVKGKK
  VYVTLTCAFRYGQEDIDVIGLTFRRDLYFSRVQVYPPVGAASTPTKLQESLLKKLGSNTY
  PFLLTFPDYLPCSVMLQPAPQDSGKSCGVDFEVKAFATDSTDAEEDKIPKKSSVRLLIRK
  VQHAPLEMGPQPRAEAAWQFFMSDKPLHLAVSLNKEIYFHGEPIPVTVTVTNNTEKTVKK
  IKAFVEQVANVVLYSSDYYVKPVAMEEAQEKVPPNSTLTKTLTLLPLLANNRERRGIALD
  GKIKHEDTNLASSTIIKEGIDRTVLGILVSYQIKVKLTVSGFLGELTSSEVATEVPFRLM
  HPQPEDPAKESYQDANLVFEEFARHNLKDAGEAEEGKRDKNDVDE

• Sequence length: 405

Pathways

KEGG:

Phototransduction

Reactome:

Inactivation, recovery and regulation of the phototransduction cascade

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Oguchi disease	Pathogenic	rs587777209, rs587776778, rs201153410, rs397514681, rs397514682, rs1574942567, rs929766806	RCV000088649 RCV000013816 RCV000034821 RCV000034823 RCV000034824 RCV000987058 RCV001271101	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oguchi disease-1	Likely pathogenic; Pathogenic	rs771810575, rs750740193, rs2469765655, rs766104513, rs201153410, rs397514681	RCV004796707 RCV005017027 RCV003991659 RCV003991812 RCV002272037 RCV001807748	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Oguchi disease-2	Pathogenic	rs201153410, rs1700648887	RCV001270292 RCV001264384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs587776778, rs201153410, rs753107507, rs201086679	RCV003887859 RCV001073952 RCV001074355 RCV001074714	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1233480483, rs748204331	RCV001199777 RCV001199779	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 47	Likely pathogenic; Pathogenic	rs771810575, rs750740193, rs587776778, rs201153410, rs397514682	RCV004796707 RCV005017027 RCV000013817 RCV002477062 RCV001807749	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 96	Likely pathogenic; Pathogenic	rs771810575, rs750740193, rs753107507	RCV004796707 RCV005017027 RCV006256252	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SAG-related disorder	Pathogenic	rs587776778, rs397514681	RCV000779313 RCV004554644	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NIGHT BLINDNESS, CONGENITAL STATIONARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OGUCHI DISEASE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinitis Pigmentosa, Recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations