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SAG (S-antigen visual arrestin)

Identity

Alias_namesS-antigen
Alias_symbol (synonym)ARRESTIN
RP47
Other aliasS-AG
HGNC (Hugo) SAG
LocusID (NCBI) 6295
Atlas_Id 45633
Location 2q37.1  [Link to chromosome band 2q37]
Location_base_pair Starts at 233307663 and ends at 233347055 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DGKD (2q37.1) / SAG (2q37.1)SAG (2q37.1) / SAG (2q37.1)DGKD 2q37.1 / SAG 2q37.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SAG   10521
Cards
Entrez_Gene (NCBI)SAG  6295  S-antigen visual arrestin
AliasesRP47; S-AG
GeneCards (Weizmann)SAG
Ensembl hg19 (Hinxton)ENSG00000130561 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130561 [Gene_View]  chr2:233307663-233347055 [Contig_View]  SAG [Vega]
ICGC DataPortalENSG00000130561
TCGA cBioPortalSAG
AceView (NCBI)SAG
Genatlas (Paris)SAG
WikiGenes6295
SOURCE (Princeton)SAG
Genetics Home Reference (NIH)SAG
Genomic and cartography
GoldenPath hg38 (UCSC)SAG  -     chr2:233307663-233347055 +  2q37.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SAG  -     2q37.1   [Description]    (hg19-Feb_2009)
EnsemblSAG - 2q37.1 [CytoView hg19]  SAG - 2q37.1 [CytoView hg38]
Mapping of homologs : NCBISAG [Mapview hg19]  SAG [Mapview hg38]
OMIM181031   258100   613758   
Gene and transcription
Genbank (Entrez)AA317634 AK302211 BC144203 BC156656 BQ636469
RefSeq transcript (Entrez)NM_000541
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SAG
Cluster EST : UnigeneHs.32721 [ NCBI ]
CGAP (NCI)Hs.32721
Alternative Splicing GalleryENSG00000130561
Gene ExpressionSAG [ NCBI-GEO ]   SAG [ EBI - ARRAY_EXPRESS ]   SAG [ SEEK ]   SAG [ MEM ]
Gene Expression Viewer (FireBrowse)SAG [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6295
GTEX Portal (Tissue expression)SAG
Human Protein AtlasENSG00000130561-SAG [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10523   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10523  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10523
Splice isoforms : SwissVarP10523
PhosPhoSitePlusP10523
Domaine pattern : Prosite (Expaxy)ARRESTINS (PS00295)   
Domains : Interpro (EBI)Arrestin    Arrestin-like_N    Arrestin_C    Arrestin_C-like    Arrestin_CS    Arrestin_N    Ig_E-set   
Domain families : Pfam (Sanger)Arrestin_C (PF02752)    Arrestin_N (PF00339)   
Domain families : Pfam (NCBI)pfam02752    pfam00339   
Domain families : Smart (EMBL)Arrestin_C (SM01017)  
Conserved Domain (NCBI)SAG
DMDM Disease mutations6295
Blocks (Seattle)SAG
SuperfamilyP10523
Human Protein Atlas [tissue]ENSG00000130561-SAG [tissue]
Peptide AtlasP10523
HPRD01625
IPIIPI00021353   IPI01010183   IPI00425942   IPI00385032   IPI01009239   IPI00916997   IPI00917616   IPI00916047   
Protein Interaction databases
DIP (DOE-UCLA)P10523
IntAct (EBI)P10523
FunCoupENSG00000130561
BioGRIDSAG
STRING (EMBL)SAG
ZODIACSAG
Ontologies - Pathways
QuickGOP10523
Ontology : AmiGOphotoreceptor outer segment  photoreceptor inner segment  opsin binding  protein phosphatase inhibitor activity  cytosol  cell surface receptor signaling pathway  visual perception  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  negative regulation of catalytic activity  phosphoprotein binding  
Ontology : EGO-EBIphotoreceptor outer segment  photoreceptor inner segment  opsin binding  protein phosphatase inhibitor activity  cytosol  cell surface receptor signaling pathway  visual perception  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  negative regulation of catalytic activity  phosphoprotein binding  
Pathways : BIOCARTAVisual Signal Transduction [Genes]   
NDEx NetworkSAG
Atlas of Cancer Signalling NetworkSAG
Wikipedia pathwaysSAG
Orthology - Evolution
OrthoDB6295
GeneTree (enSembl)ENSG00000130561
Phylogenetic Trees/Animal Genes : TreeFamSAG
HOVERGENP10523
HOGENOMP10523
Homologs : HomoloGeneSAG
Homology/Alignments : Family Browser (UCSC)SAG
Gene fusions - Rearrangements
Fusion : MitelmanDGKD/SAG [2q37.1/2q37.1]  [t(2;2)(q37;q37)]  
Fusion: TCGA_MDACCDGKD 2q37.1 SAG 2q37.1 LUAD
Tumor Fusion PortalSAG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAG [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAG
dbVarSAG
ClinVarSAG
1000_GenomesSAG 
Exome Variant ServerSAG
ExAC (Exome Aggregation Consortium)ENSG00000130561
GNOMAD BrowserENSG00000130561
Genetic variants : HAPMAP6295
Genomic Variants (DGV)SAG [DGVbeta]
DECIPHERSAG [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSAG 
Mutations
ICGC Data PortalSAG 
TCGA Data PortalSAG 
Broad Tumor PortalSAG
OASIS PortalSAG [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSAG  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSAG
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch SAG
DgiDB (Drug Gene Interaction Database)SAG
DoCM (Curated mutations)SAG (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SAG (select a term)
intoGenSAG
Cancer3DSAG(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM181031    258100    613758   
Orphanet659    923    11079   
DisGeNETSAG
MedgenSAG
Genetic Testing Registry SAG
NextProtP10523 [Medical]
TSGene6295
GENETestsSAG
Target ValidationSAG
Huge Navigator SAG [HugePedia]
snp3D : Map Gene to Disease6295
BioCentury BCIQSAG
ClinGenSAG
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6295
Chemical/Pharm GKB GenePA34929
Clinical trialSAG
Miscellaneous
canSAR (ICR)SAG (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSAG
EVEXSAG
GoPubMedSAG
iHOPSAG
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:33:25 CET 2017

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