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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SAG Gene

protein-coding GIFtS: 60
GCID: GC02P234240

S-antigen; retina and pineal gland (arrestin)

Explore 62 diseases affiliated with
SAG via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
S-Antigen; Retina And Pineal Gland (Arrestin)¹ ²		ARRESTIN¹
RP47¹ ² ⁵		S-Arrestin¹
Rod Photoreceptor Arrestin² ³		Arrestin 1²
48 KDa Protein² ³		Retinal S-Antigen (48 KDa Protein)²
S-AG² ³		Retinal S-Antigen³

External Ids:	HGNC: 10521¹	Entrez Gene: 6295²	Ensembl: ENSG00000130561⁷	OMIM: 181031⁵	UniProtKB: P10523³

Export aliases for SAG gene to outside databases

Previous GC identifers: GC02P232224 GC02P232898 GC02P234232 GC02P234503 GC02P233998 GC02P233881 GC02P226017 GC02P234234

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SAG:

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 signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein

that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the

pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic,

and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with

Oguchi disease, a rare autosomal recessive form of night blindness. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523

Function: Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to

photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of

phosphodiesterase

Gene Wiki entry for SAG

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005120.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SAG gene promoter:
c-Fos GR AP-1 ATF-2 GR-alpha c-Jun
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for SAG

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SAG

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.1 Ensembl cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37.1

SAG Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SAG gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P234240: view genomic region (about GC identifiers)

Start:	234,216,309 bp from pter	End:	234,255,701 bp from pter
Size:	39,393 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523 (See protein sequence)

Recommended Name: S-arrestin

Size: 405 amino acids; 45120 Da

Miscellaneous: Arrestin binds calcium

Secondary accessions: Q53SV3 Q99858

Explore the universe of human proteins at neXtProt for SAG: NX_P10523

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10523

SAG Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000532.2

ENSEMBL proteins:

ENSP00000408937 ENSP00000386444 ENSP00000409475 ENSP00000404733 ENSP00000392889

Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SAG

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	IEA	--
GO:0001917	photoreceptor inner segment	IEA	--

SAG for ontologies About GeneDecksing

SAG Antibody Products:

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	Uscn ELISAs and CLIAs for SAG

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SAG for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR000698 Arrestin

IPR014756 Ig_E-set

IPR014752 Arrestin_C

IPR011022 Arrestin_C-like

IPR011021 Arrestin-like_N

Graphical View of Domain Structure for InterPro Entry P10523

ProtoNet protein and cluster: P10523

1 Blocks protein family: IPB000698 Arrestin

UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523

Similarity: Belongs to the arrestin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523

Function: Arrestin is one of the major proteins of the ros (retinal rod outer segments); it binds to

photoactivated-phosphorylated rhodopsin, thereby apparently preventing the transducin-mediated activation of

phosphodiesterase

Genatlas biochemistry entry for SAG:

S-antigen (48kDa),Ca2+ binding,P-rhodopsin inhibitory binding protein (arrestin),retina and pineal gland,cofactor of

rhodopsin kinase

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAG
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Gene Editing
Products:

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for SAG
		Search LifeMap BioReagents cell lines for SAG

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAG

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002046	opsin binding	IEA	--
GO:0004864	protein phosphatase inhibitor activity	TAS	2550422
GO:0051219	phosphoprotein binding	IEA	--

SAG for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Sag^tm1Jnc for SAG
     2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Sag):

nervous system

vision/eye

SAG for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Neuroscience

Neuroscience

1.00

Ca, cAMP and Lipid Signaling

Ca, cAMP and Lipid Signaling

1.00

Visual Cycle in Retinal Rods

Visual Cycle in Retinal Rods

1.00

Visual signal transduction- Rods

Visual signal transduction- Rods

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SAG

Visual Cycle in Retinal Rods

2 Cell Signaling Technology (CST) Pathways for SAG

	Ca, cAMP and Lipid Signaling
	Neuroscience

1 BioSystems Pathway for SAG

Visual signal transduction- Rods

SAG for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for SAG

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/16 Interacting proteins for SAG (P10523³ ENSP00000386444⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CHRM2	P08172³, ENSP00000319984⁴	I2D: score=1 STRING: ENSP00000319984
ADRA1B	P35368³, ENSP00000306662⁴	I2D: score=1 STRING: ENSP00000306662
RHO	P08100³, ENSP00000296271⁴	I2D: score=2 STRING: ENSP00000296271
ARRB1	P49407³	I2D: score=1
ARRB2	P32121³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	--	--
GO:0007166	cell surface receptor signaling pathway	TAS	7670478
GO:0007601	visual perception	IEA	--
GO:0016056	rhodopsin mediated signaling pathway	TAS	2550422

SAG for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SAG for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SAG

1 HMDB Compound for SAG About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

10/42 Novoseek chemical compound relationships for SAG gene (see all 42) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphorhodopsin	90.7	10	16547131 (2), 9624137 (1), 17848565 (1), 9188704 (1) (see all 6)
metarhodopsin ii	83.6	33	9047319 (5), 10969086 (3), 8446607 (2), 8639666 (2) (see all 13)
retinoid	43.8	13	9317106 (1), 12937633 (1), 8393049 (1), 11498256 (1) (see all 11)
threonine	42.7	9	17981995 (1), 17995450 (1), 14636063 (1), 12424254 (1) (see all 7)
hydroxylamine	31.2	5	16547131 (2), 9775211 (1)
serine	27.1	9	18096696 (1), 17981995 (1), 17995450 (1), 12424254 (1) (see all 7)
phytate	23.5	3	18161994 (1), 1765153 (1), 16439357 (1)
cgmp	18.6	5	10052946 (1), 2158671 (1), 18184973 (1), 17928024 (1)
morphine	15.9	8	16682505 (1), 10443588 (1), 9707575 (1), 11584310 (1) (see all 6)
vitamin a	14.7	7	11078833 (1), 7662865 (1), 9673006 (1), 8305429 (1) (see all 6)

Search CenterWatch for drugs/clinical trials and news about SAG / ARRS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SAG gene:

NM_000541.4

Unigene Cluster for SAG:

S-antigen; retina and pineal gland (arrestin)

Hs.32721 [show with all ESTs]

Unigene Representative Sequence: NM_000541

17 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000447536(uc002vug.2) ENST00000476500 ENST00000409110(uc002vuh.2 uc010zmq.1)

ENST00000462487 ENST00000471884 ENST00000479450 ENST00000415974 ENST00000412969

ENST00000453143 ENST00000474206 ENST00000461532 ENST00000469222 ENST00000483231

ENST00000473771 ENST00000474220 ENST00000492629 ENST00000449594

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SAG
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SAG (see all 7) OriGene shRNA RFP: SAG OriGene siRNA: SAG
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		GenScript: all cDNA clones in your preferred vector: SAG (NM_000541)
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Additional cDNA sequence:

AK302211.1 BC144203.1 DQ980618.1 DQ980619.1 DQ980620.1 X12453.1

15 DOTS entries:

DT.453624 DT.97777873 DT.40260079 DT.95155893 DT.100719466 DT.97785391 DT.97800611 DT.100735827

DT.101957023 DT.97801983 DT.97841966 DT.100675003 DT.101969215 DT.40111426 DT.99949387

24/121 AceView cDNA sequences (see all 121):

BQ639030 BQ636721 BM695644 AA057232 BQ636406 BQ635890 BQ638873 BQ638804

BX642426 BQ639204 BQ637870 BM663748 AA918179 BQ636469 BX642424 BM709879

BQ638493 BQ639557 BQ640682 BQ637563 BQ635987 BQ636317 AL713222 AL711340

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for SAG (see all 9) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6	^	7a	·	7b	·	7c	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	^	11	^	12a	·	12b	^	13
SP1:									-								-										-
SP2:																	-										-
SP3:																	-
SP4:																											-
SP5:									-								-		-

ECgene alternative splicing isoforms for SAG

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SAG expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACCCTCAGC

About this image

SAG expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Photoreceptor-like cells (Generation of retina...)

Eye

Photoreceptor-like cells (Generation of retina...)

See SAG Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SAG

SOURCE GeneReport for Unigene cluster: Hs.32721

UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523

Tissue specificity: Retina and pineal gland

SABiosciences Custom PCR Arrays for SAG

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SAG

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SAG

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SAG gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SAG¹	S-antigen; retina and pineal gland (arrestin)	71.01(n) 72.38(a)		768877 XM_001231685.1 XP_001231686.1
lizard (Anolis carolinensis)	Reptilia	SAG⁶	--	63(a)	1 ↔ 1	3(35962025-35976043)
African clawed frog (Xenopus laevis)	Amphibia	LOC398109²	arrestin	73.8(n)		U41623.1
zebrafish (Danio rerio)	Actinopterygii	saga¹	S-antigen; retina and pineal gland (arrestin) a	63.13(n) 58.89(a)		792319 NM_200559.1 NP_956853.1
fruit fly (Drosophila melanogaster)	Insecta	Arr1³	deactivation of rhodopsin mediated signaling metarhodopsin more	42(a) (best of 2)		36D3 --
worm (Caenorhabditis elegans)	Secernentea	arr-1⁶	Probable beta-arrestin	39(a)	1 → many	X(950779-954230)

ENSEMBL Gene Tree for SAG (if available)
TreeFam Gene Tree for SAG (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SAG gene

ARR3² ARRB2² ARRB1²

6 SIMAP similar genes for SAG using alignment to 6 protein entries: ARRS_HUMAN (see all proteins):

DKFZp686J1593 DKFZp686I1383 ARRB1 ARRB2 ARR3 DKFZp686L0365

SAG for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs7588509^1,2	C,F,A,H,	--	226015731(+)	`AAATGT/CGGCCA`	1	--	us2k¹		21		NS EA NA WA CSA	2362
rs77882097^1,2	C,	--	226015788(+)	`AGTTTG/AACACC`	1	--	us2k¹		2		WA	120
rs6719241^1,2	C,F,A,H,	--	226016010(+)	`aaagaG/Ttgaaa`	1	--	us2k¹ trp³		17		NS EA NA WA	2338
rs79659607^1,2		--	226016273(+)	`ACAGGC/GCTCAG`	1	--	us2k¹		0	--	--	--	--
rs74198395^1,2	F,	--	226016331(+)	`AATGTG/AGTCGG`	1	--	us2k¹		2		WA NA	238
rs13410916^1,2	A	--	226016596(+)	`gggagA/Gcagaa`	1	--	us2k¹		0	--	--	--	--
rs79300437^1,2	C,F,	--	226016999(+)	`GGAATG/AAAGAG`	1	--	us2k¹		1		WA	118
rs189763324^1,2	C,	--	226017412(+)	`TCCTTA/GCCACC`	1	--	ut5¹		0	--	--	--	--
rs1978921^1,2	C,F,A,H,	--	226017701(-)	`tattgC/Ttcaag`	1	--	int¹		12		NS EA NA WA	918
rs78571834^1,2	C,	--	226018033(+)	`TTTTTT/AAAAAA`	1	--	int¹		3		CSA WA NA	240

HapMap Linkage Disequilibrium report for SAG (234216309 - 234255701 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for SAG
2 CNVs: 79017 53177
Human Gene Mutation Database (HGMD): SAG

Locus Specific Mutation Databases (LSDB): SAG

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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SAG for disorders           About GeneDecksing

OMIM gene information: 181031
OMIM disorders: 258100
UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523

Defects in SAG are the cause of congenital stationary night blindness Oguchi type 1 (CSNBO1) [MIM:258100];

also known as Oguchi disease. Congenital stationary night blindness is a non-progressive retinal disorder

characterized by impaired night vision. CSNBO is an autosomal recessive form associated with fundus discoloration and

abnormally slow dark adaptation

Defects in SAG are the cause of retinitis pigmentosa type 47 (RP47) [MIM:613758]. RP47 is a retinal dystrophy

belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits

visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone

photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their

condition progresses, they lose their far peripheral visual field and eventually central vision as well

20/62 diseases for SAG (see all 62): About MalaCards

night blindness blindness retinitis pigmentosa-47 congenital stationary night blindness

retinitis oguchi disease 1 hypersensitivity reaction type ii disease retinol binding protein

prader-willi syndrome fundus albipunctatus central neurocytoma eales disease

retinitis pigmentosa pineocytoma acute disseminated encephalomyelitis pineoblastoma

endophthalmitis medullomyoblastoma anterior uveitis uveitis

6 diseases from the University of Copenhagen DISEASES database for SAG:

Uveitis Hereditary night blindness Chorioretinitis Hepatitis B

Retinitis Retinal degeneration

10/39 Novoseek disease relationships for SAG gene (see all 39) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
oguchis disease	92	19	15295660 (2), 10549660 (2), 9020843 (2), 9501883 (2) (see all 12)
uveitis	80.6	93	10471975 (4), 18958488 (4), 1635290 (3), 8162968 (2) (see all 53)
retinal degeneration	70.4	10	12637747 (1), 17069872 (1), 10339543 (1), 15541899 (1) (see all 10)
night blindness	67.7	8	10549660 (2), 11078833 (1), 9497461 (1), 9501883 (1) (see all 6)
pineocytoma	65.7	1	7821912 (1)
uveitis posterior	63.2	4	11263956 (1), 15010290 (1), 1289136 (1), 8223035 (1)
pineal tumors	59.1	4	8360704 (2), 20418777 (1)
pineoblastoma	55.6	2	7821912 (1), 8360704 (1)
retinal vasculitis	54.8	3	1598962 (2), 18421236 (1)
retinopathy	49.1	7	12608038 (2), 10339543 (1), 18814277 (1), 16030131 (1) (see all 6)

Human Genome Epidemiology (HuGE) Navigator: SAG (4 documents)

Export disorders for SAG gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for SAG gene, integrated from 9 sources (see all 443):
(articles sorted by number of sources associating them with SAG)

Utopia: connect your pdf to the dynamic
world of online information

Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness. (PubMed id 9501883)^{1, 2, 9} Sippel K.C.... Dryja T.P. (1998)
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. (PubMed id 9020843)^{1, 2, 9} Yamamoto S.... Dryja T.P. (1997)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese. (PubMed id 7670478)^{1, 2} Fuchs S....Gal A. (1995)
Structural organization of the human S-antigen gene. cDNA, amino acid, intron, exon, promoter, in vitro transcription, retina, and pineal gland. (PubMed id 2249983)^{1, 3} Yamaki K....Shinohara T. (1990)
The sequence of human retinal S-antigen reveals similarities with alpha-transducin. (PubMed id 3164688)^{1, 2} Yamaki K.... Shinohara T. (1988)
Chromosome mapping of the human arrestin (SAG), beta-arrestin 2 (ARRB2), and beta-adrenergic receptor kinase 2 (ADRBK2) genes. (PubMed id 7695743)^{1, 9} Calabrese G....De Blasi A. (1994)
In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases. (PubMed id 18175313)^{1, 9} Mokarzel-Falcon L....Montero-Cabrera L.A. (2008)
Structure and function of the visual arrestin oligomer. (PubMed id 17332750)^{1, 9} Hanson S.M....Gurevich V.V. (2007)
Acidic amino acids flanking phosphorylation sites in the M2 muscarinic receptor regulate receptor phosphorylation, internalization, and interaction with arrestins. (PubMed id 10952973)^{1, 9} Lee K.B....Hosey M.M. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6295	HGNC: 10521	AceView: SAG	Ensembl:ENSG00000130561	euGenes: HUgn6295
ECgene: SAG	H-InvDB: SAG

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for SAG	Pharmacogenomics, SNPs, Pathways
Mutations of the SAG gene	http://www.retina-international.org/files/sci-news/sagmut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SAG

Intellectual Property for SAG gene
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Patent Information for SAG gene:
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GeneCards and IP:
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S-antigen; retina and pineal gland (arrestin)

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Autoimmune Diseases
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SAG Gene

S-antigen; retina and pineal gland (arrestin)

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