SAG

Chr 2q37.1

S-antigen visual arrestin

Aliases:: ARRESTIN, RP47
MANE:: ENST00000409110.6

OMIM: 181031 ↗NCBI: 6295 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

SAG · P10523

v62025-08-01

Predicted Aligned Error matrix for SAG — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.1/ 100

Confident

405 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)22%
Low(50–70)9%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Glaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa
0.71
Oguchi disease
0.69
Oguchi disease-1
0.66
retinitis pigmentosa 96
0.54
Retinal dystrophy
0.52
Oguchi disease-2
0.43
type 2 diabetes mellitus
0.38
hypertensive disorder
0.36
cone dystrophy
0.34
Increased blood pressure
0.33

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

S-arrestin

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)