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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SAG Gene

protein-coding   GIFtS: 63
GCID: GC02P234247

S-Antigen; Retina And Pineal Gland (Arrestin)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
S-Antigen; Retina And Pineal Gland (Arrestin)1 2     RP472 5
Arrestin 11 2     S-arrestin2
Rod Photoreceptor Arrestin2 3     Retinal S-Antigen (48 KDa Protein)2
48 KDa Protein2 3     Retinal S-Antigen3
S-AG2 3     

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 GC02P234240


(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 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 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)

GeneCards Summary for SAG Gene: 
SAG (S-antigen; retina and pineal gland (arrestin)) is a protein-coding gene. Diseases associated with SAG include retinal vasculitis, and eales disease, and among its related super-pathways are The phototransduction cascade and Retinoid metabolism and transport. GO annotations related to this gene include opsin binding and protein phosphatase inhibitor activity. An important paralog of this gene is ARR3.

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 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005120.16  NC_018913.2  
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 GC02P234247:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for SAG at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10523

  • SAG Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SAG Protein Expression
    REFSEQ proteins: NP_000532.2  
    ENSEMBL proteins: 
     ENSP00000408937   ENSP00000386444   ENSP00000409475   ENSP00000404733   ENSP00000392889  
    Reactome Protein details: P10523
    Human Recombinant Protein Products for SAG: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SAG 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IEA--
    GO:0001917photoreceptor inner segment IEA--
    GO:0005829cytosol TAS--

    SAG for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for SAG


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (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 domain: IPB000698 Arrestin

    UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523
    Similarity: Belongs to the arrestin family


    SAG for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002046opsin binding IEA--
    GO:0004864protein phosphatase inhibitor activity TAS2550422
    GO:0051219phosphoprotein binding IEA--
         
    SAG for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sag):
     nervous system  vision/eye 

    SAG for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sagtm1Jnc for SAG

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SAG 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SAG

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SAG About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Visual signal transduction- Rods
    Visual signal transduction- Rods0.54
    Inactivation, recovery and regulation of the phototransduction cascade0.51
    The phototransduction cascade0.54
    2Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    3Signaling by GPCR
    Signal Transduction0.55
    4Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods
    5Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/6        Reactome Pathways for SAG (see all 6)
        Diseases associated with visual transduction
    The phototransduction cascade
    Signal Transduction
    Visual phototransduction
    Disease



    SAG for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM 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)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRM2P081723, ENSP000003199844I2D: score=1 STRING: ENSP00000319984
    ADRA1BP353683, ENSP000003066624I2D: score=1 STRING: ENSP00000306662
    RHOP081003, ENSP000002962714I2D: score=2 STRING: ENSP00000296271
    ARRB1P494073I2D: score=1 
    ARRB2P321213I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction ----
    GO:0007166cell surface receptor signaling pathway TAS7670478
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--
    GO:0016056rhodopsin mediated signaling pathway TAS--

    SAG for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 (ARRS)

    1 HMDB Compound for SAG    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/42 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA 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):

    AL711340 BQ637870 BM709760 BU733194 CA392727 BQ638493 BQ639557 BQ638994 
    BQ636317 BQ635987 BQ640682 BQ639030 BQ639460 BQ638804 BX642426 AA918179 
    BQ639204 H91939 AL713222 BQ637563 BQ636721 BQ636469 BQ640103 H38275 

    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)      SAG embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCCTCAGC
    SAG Expression
    About this image


    SAG expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             cornea   
     
     Testis (Reproductive System)
     
     Pancreas (Endocrine System)

    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

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    In Situ
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    (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 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sag1 , 5 retinal S-antigen1, 5 86.18(n)1
    88.94(a)1
      1 (44.44 cM)5
    202151  NM_009118.21  NP_033144.11 
     878036805 
    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
    Uncharacterized protein
    64(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(950782-954233)


    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, 4UniProtKB, 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

    10/1000 SNPs in SAG are shown (see all 1000)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0082684
    ----see VAR_0082682 R C mis40--------
    rs3759806641,2
    C--226023144(+) GCTAA-/TCTTTTT 1 -- int10--------
    rs1923588441,2
    C--226039973(+) TTCCTC/TCCTCC 1 -- int10--------
    rs1404433041,2
    C--233587355(+) GCCTGC/GGTGAC 1 -- us2k10--------
    rs1854325631,2
    --233587378(+) TGTCTC/TTAAAA 1 -- us2k10--------
    rs1443158951,2
    --233587402(+) GCTCAA/GTACTC 1 -- us2k10--------
    rs1473448561,2
    --233587568(+) TTTCTA/GCATAT 1 -- us2k10--------
    rs1394715861,2
    C--233587621(+) GTGGTC/TGCAGA 1 -- us2k10--------
    rs75885091,2
    C,F,A,H--233587792(+) aaatgT/Cggcca 1 -- us2k121Minor allele frequency- C:0.22NS EA NA WA CSA 2362
    rs1892956351,2
    --233587803(+) GGCACA/GGTAGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SAG (234216309 - 234255701 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SAG:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678091CNV Deletion23128226
    dgv495n27CNV Loss19166990


    Human Gene Mutation Database (HGMD): SAG

    Locus Specific Mutation Databases (LSDB): SAG
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing SAG
    DNA2.0 Custom Variant and Variant Library Synthesis for SAG

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 181031   
    OMIM disorders: 258100  
    UniProtKB/Swiss-Prot: ARRS_HUMAN, P10523
  • Night blindness, congenital stationary, Oguchi type 1 (CSNBO1) [MIM:258100]: A non-progressive retinal
    disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital
    stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and
    abnormally slow dark adaptation. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Retinitis pigmentosa 47 (RP47) [MIM:613758]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/62 diseases for SAG (see all 62):    About MalaCards
    retinal vasculitis    eales disease    medullomyoblastoma    sag-related retinitis pigmentosa
    oguchi disease 1    acute zonal occult outer retinopathy    large cell medulloblastoma    endophthalmitis
    uveitis    pineocytoma    cerebellar medulloblastoma    posterior uveitis
    hereditary night blindness    pineoblastoma    acute disseminated encephalomyelitis    paragonimiasis
    vasculitis    blindness    night blindness    central neurocytoma

    6 diseases from the University of Copenhagen DISEASES database for SAG:
    Uveitis     Hereditary night blindness     Chorioretinitis     Hepatitis B
    Retinitis     Retinal degeneration

    SAG for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/39 Novoseek inferred 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)

    Genetic Association Database (GAD): SAG
    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)
    About This Section

    PubMed articles for SAG gene, integrated from 9 sources (see all 446):
    (articles sorted by number of sources associating them with SAG)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    4. 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)
    5. 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)
    6. 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)
    7. The sequence of human retinal S-antigen reveals similarities with alpha-transducin. (PubMed id 3164688)1, 2 Yamaki K.... Shinohara T. (1988)
    8. 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)
    9. 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)
    10. Structure and function of the visual arrestin oligomer. (PubMed id 17332750)1, 9 Hanson S.M....Gurevich V.V. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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)
    About This Section
    Entrez Gene: 6295 HGNC: 10521 AceView: SAG Ensembl:ENSG00000130561 euGenes: HUgn6295
    ECgene: SAG H-InvDB: SAG

    (According to HUGE)
    About This Section
      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SAG gene:
    Search GeneIP for patents involving SAG

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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