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SAG (S-antigen; retina and pineal gland (arrestin))

Identity

Other namesRP47
S-AG
HGNC (Hugo) SAG
LocusID (NCBI) 6295
Atlas_Id 45633
Location 2q37.1
Location_base_pair Starts at 234216309 and ends at 234255701 bp from pter ( according to hg19-Feb_2009)

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; retina and pineal gland (arrestin)
GeneCards (Weizmann)SAG
Ensembl hg19 (Hinxton)ENSG00000130561 [Gene_View]  chr2:234216309-234255701 [Contig_View]  SAG [Vega]
Ensembl hg38 (Hinxton)ENSG00000130561 [Gene_View]  chr2:234216309-234255701 [Contig_View]  SAG [Vega]
ICGC DataPortalENSG00000130561
TCGA cBioPortalSAG
AceView (NCBI)SAG
Genatlas (Paris)SAG
WikiGenes6295
SOURCE (Princeton)SAG
Genomic and cartography
GoldenPath hg19 (UCSC)SAG  -     chr2:234216309-234255701 +  2q37.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SAG  -     2q37.1   [Description]    (hg38-Dec_2013)
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)NC_000002 NC_018913 NG_009116 NT_005403 NW_004929306 NW_011332690
Consensus coding sequences : CCDS (NCBI)SAG
Cluster EST : UnigeneHs.32721 [ NCBI ]
CGAP (NCI)Hs.32721
Alternative Splicing : Fast-db (Paris)GSHG0017291
Alternative Splicing GalleryENSG00000130561
Gene ExpressionSAG [ NCBI-GEO ]     SAG [ SEEK ]   SAG [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10523 (Uniprot)
NextProtP10523  [Medical]
With graphics : InterProP10523
Splice isoforms : SwissVarP10523 (Swissvar)
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   
Related proteins : CluSTrP10523
Domain families : Pfam (Sanger)Arrestin_C (PF02752)    Arrestin_N (PF00339)   
Domain families : Pfam (NCBI)pfam02752    pfam00339   
Domain families : Smart (EMBL)Arrestin_C (SM01017)  
DMDM Disease mutations6295
Blocks (Seattle)P10523
Human Protein AtlasENSG00000130561
Peptide AtlasP10523
HPRD01625
IPIIPI00021353   IPI01010183   IPI00425942   IPI00385032   IPI01009239   IPI00916997   IPI00917616   IPI00916047   
Protein Interaction databases
DIP (DOE-UCLA)P10523
IntAct (EBI)P10523
FunCoupENSG00000130561
BioGRIDSAG
IntegromeDBSAG
STRING (EMBL)SAG
Ontologies - Pathways
QuickGOP10523
Ontology : AmiGOphotoreceptor outer segment  photoreceptor inner segment  opsin binding  protein phosphatase inhibitor activity  cytosol  cell surface receptor signaling pathway  visual perception  phototransduction, visible light  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  phototransduction, visible light  rhodopsin mediated signaling pathway  regulation of rhodopsin mediated signaling pathway  negative regulation of catalytic activity  phosphoprotein binding  
Pathways : BIOCARTAVisual Signal Transduction [Genes]   
Protein Interaction DatabaseSAG
DoCM (Curated mutations)SAG
Wikipedia pathwaysSAG
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerSAG [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAG
dbVarSAG
ClinVarSAG
1000_GenomesSAG 
Exome Variant ServerSAG
SNP (GeneSNP Utah)SAG
SNP : HGBaseSAG
Genetic variants : HAPMAPSAG
Genomic Variants (DGV)SAG [DGVbeta]
Mutations
ICGC Data PortalSAG 
TCGA Data PortalSAG 
Tumor PortalSAG
Somatic Mutations in Cancer : COSMICSAG 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:234216309-234255701
CONAN: Copy Number AnalysisSAG 
Mutations and Diseases : HGMDSAG
OMIM181031    258100    613758   
MedgenSAG
NextProtP10523 [Medical]
GENETestsSAG
Disease Genetic AssociationSAG
Huge Navigator SAG [HugePedia]  SAG [HugeCancerGEM]
snp3D : Map Gene to Disease6295
DGIdb (Drug Gene Interaction db)SAG
General knowledge
Homologs : HomoloGeneSAG
Homology/Alignments : Family Browser (UCSC)SAG
Phylogenetic Trees/Animal Genes : TreeFamSAG
Chemical/Protein Interactions : CTD6295
Chemical/Pharm GKB GenePA34929
Clinical trialSAG
Cancer Resource (Charite)ENSG00000130561
Other databases
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
CoreMineSAG
GoPubMedSAG
iHOPSAG
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 15:11:21 CEST 2015

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