SAG (S-antigen visual arrestin)

2007-02-01  

Identity

HGNC
LOCATION
2q37.1
LOCUSID
ALIAS
RP47,S-AG
FUSION GENES

Other Information

Locus ID:

NCBI: 6295
MIM: 181031
HGNC: 10521
Ensembl: ENSG00000130561

Variants:

dbSNP: 6295
ClinVar: 6295
TCGA: ENSG00000130561
COSMIC: SAG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130561ENST00000409110P10523
ENSG00000130561ENST00000415974C9JSX4
ENSG00000130561ENST00000447536E7ESX4
ENSG00000130561ENST00000453143F8WCN5

Expression (GTEx)

0
1
2
3
4
5
6
7
8

Pathways

PathwaySourceExternal ID
PhototransductionKEGGko04744
PhototransductionKEGGhsa04744
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The phototransduction cascadeREACTOMER-HSA-2514856
Activation of the phototransduction cascadeREACTOMER-HSA-2485179
Inactivation, recovery and regulation of the phototransduction cascadeREACTOMER-HSA-2514859

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
355496882022Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.0
355496882022Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.0
330476312021Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.1
330476312021Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.1
323331902020Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.2
323331902020Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.2
303895142019Autoantibody against arrestin-1 as a potential biomarker of renal cell carcinoma.7
312570362019Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.11
303895142019Autoantibody against arrestin-1 as a potential biomarker of renal cell carcinoma.7
312570362019Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.11
285490942017A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.17
285490942017A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.17
232775862013Involvement of distinct arrestin-1 elements in binding to different functional forms of rhodopsin.75
232775862013Involvement of distinct arrestin-1 elements in binding to different functional forms of rhodopsin.75
224198462012A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.6

Citation

Dessen P

SAG (S-antigen visual arrestin)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45633/sag-(s-antigen-visual-arrestin)