Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RGN (regucalcin)

Identity

Alias (NCBI)GNL
HEL-S-41
RC
SMP30
HGNC (Hugo) RGN
HGNC Alias symbSMP30
RC
HGNC Alias namesenescence marker protein-30
 gluconolactonase
HGNC Previous nameregucalcin (senescence marker protein-30)
LocusID (NCBI) 9104
Atlas_Id 51174
Location Xp11.3  [Link to chromosome band Xp11]
Location_base_pair Starts at 47078443 and ends at 47093313 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)

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)RGN   9989
Cards
Entrez_Gene (NCBI)RGN  9104  regucalcin
AliasesGNL; HEL-S-41; RC; SMP30
GeneCards (Weizmann)RGN
Ensembl hg19 (Hinxton)ENSG00000130988 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130988 [Gene_View]  ENSG00000130988 [Sequence]  chrX:47078443-47093313 [Contig_View]  RGN [Vega]
ICGC DataPortalENSG00000130988
TCGA cBioPortalRGN
AceView (NCBI)RGN
Genatlas (Paris)RGN
WikiGenes9104
SOURCE (Princeton)RGN
Genetics Home Reference (NIH)RGN
Genomic and cartography
GoldenPath hg38 (UCSC)RGN  -     chrX:47078443-47093313 +  Xp11.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RGN  -     Xp11.3   [Description]    (hg19-Feb_2009)
GoldenPathRGN - Xp11.3 [CytoView hg19]  RGN - Xp11.3 [CytoView hg38]
ImmunoBaseENSG00000130988
genome Data Viewer NCBIRGN [Mapview hg19]  
OMIM300212   
Gene and transcription
Genbank (Entrez)AB028125 AB032064 AK223360 AK290136 BC050371
RefSeq transcript (Entrez)NM_001282848 NM_001282849 NM_004683 NM_152869
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RGN
Alternative Splicing GalleryENSG00000130988
Gene ExpressionRGN [ NCBI-GEO ]   RGN [ EBI - ARRAY_EXPRESS ]   RGN [ SEEK ]   RGN [ MEM ]
Gene Expression Viewer (FireBrowse)RGN [ Firebrowse - Broad ]
GenevisibleExpression of RGN in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9104
GTEX Portal (Tissue expression)RGN
Human Protein AtlasENSG00000130988-RGN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15493   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15493  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15493
Splice isoforms : SwissVarQ15493
Catalytic activity : Enzyme3.1.1.17 [ Enzyme-Expasy ]   3.1.1.173.1.1.17 [ IntEnz-EBI ]   3.1.1.17 [ BRENDA ]   3.1.1.17 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusQ15493
Domains : Interpro (EBI)6-blade_b-propeller_TolB-like    Regucalcin    SGL    SMP-30    SMP-30/CGR1   
Domain families : Pfam (Sanger)SGL (PF08450)   
Domain families : Pfam (NCBI)pfam08450   
Conserved Domain (NCBI)RGN
DMDM Disease mutations9104
Blocks (Seattle)RGN
PDB (RSDB)3G4E    3G4H    4GNB    4GNC   
PDB Europe3G4E    3G4H    4GNB    4GNC   
PDB (PDBSum)3G4E    3G4H    4GNB    4GNC   
PDB (IMB)3G4E    3G4H    4GNB    4GNC   
Structural Biology KnowledgeBase3G4E    3G4H    4GNB    4GNC   
SCOP (Structural Classification of Proteins)3G4E    3G4H    4GNB    4GNC   
CATH (Classification of proteins structures)3G4E    3G4H    4GNB    4GNC   
SuperfamilyQ15493
Human Protein Atlas [tissue]ENSG00000130988-RGN [tissue]
Peptide AtlasQ15493
HPRD02196
IPIIPI00017551   IPI00845361   
Protein Interaction databases
DIP (DOE-UCLA)Q15493
IntAct (EBI)Q15493
FunCoupENSG00000130988
BioGRIDRGN
STRING (EMBL)RGN
ZODIACRGN
Ontologies - Pathways
QuickGOQ15493
Ontology : AmiGOkidney development  gluconolactonase activity  gluconolactonase activity  calcium ion binding  calcium ion binding  calcium ion binding  nucleus  cytoplasm  cytosol  negative regulation of protein kinase activity  cellular calcium ion homeostasis  spermatogenesis  aging  zinc ion binding  positive regulation of triglyceride biosynthetic process  positive regulation of glucose metabolic process  positive regulation of phosphatase activity  L-ascorbic acid biosynthetic process  enzyme regulator activity  negative regulation of phosphoprotein phosphatase activity  positive regulation of ATPase activity  negative regulation of GTPase activity  negative regulation of apoptotic process  positive regulation of GTPase activity  negative regulation of nitric oxide biosynthetic process  positive regulation of fatty acid biosynthetic process  negative regulation of epithelial cell proliferation  regulation of calcium-mediated signaling  negative regulation of cyclic-nucleotide phosphodiesterase activity  liver regeneration  negative regulation of flagellated sperm motility  positive regulation of superoxide dismutase activity  positive regulation of calcium-transporting ATPase activity  negative regulation of RNA biosynthetic process  negative regulation of bone development  positive regulation of proteolysis involved in cellular protein catabolic process  negative regulation of calcium-dependent ATPase activity  negative regulation of DNA catabolic process  positive regulation of dUTP diphosphatase activity  negative regulation of leucine-tRNA ligase activity  negative regulation of DNA biosynthetic process  
Ontology : EGO-EBIkidney development  gluconolactonase activity  gluconolactonase activity  calcium ion binding  calcium ion binding  calcium ion binding  nucleus  cytoplasm  cytosol  negative regulation of protein kinase activity  cellular calcium ion homeostasis  spermatogenesis  aging  zinc ion binding  positive regulation of triglyceride biosynthetic process  positive regulation of glucose metabolic process  positive regulation of phosphatase activity  L-ascorbic acid biosynthetic process  enzyme regulator activity  negative regulation of phosphoprotein phosphatase activity  positive regulation of ATPase activity  negative regulation of GTPase activity  negative regulation of apoptotic process  positive regulation of GTPase activity  negative regulation of nitric oxide biosynthetic process  positive regulation of fatty acid biosynthetic process  negative regulation of epithelial cell proliferation  regulation of calcium-mediated signaling  negative regulation of cyclic-nucleotide phosphodiesterase activity  liver regeneration  negative regulation of flagellated sperm motility  positive regulation of superoxide dismutase activity  positive regulation of calcium-transporting ATPase activity  negative regulation of RNA biosynthetic process  negative regulation of bone development  positive regulation of proteolysis involved in cellular protein catabolic process  negative regulation of calcium-dependent ATPase activity  negative regulation of DNA catabolic process  positive regulation of dUTP diphosphatase activity  negative regulation of leucine-tRNA ligase activity  negative regulation of DNA biosynthetic process  
Pathways : KEGGPentose phosphate pathway    Ascorbate and aldarate metabolism   
NDEx NetworkRGN
Atlas of Cancer Signalling NetworkRGN
Wikipedia pathwaysRGN
Orthology - Evolution
OrthoDB9104
GeneTree (enSembl)ENSG00000130988
Phylogenetic Trees/Animal Genes : TreeFamRGN
HOGENOMQ15493
Homologs : HomoloGeneRGN
Homology/Alignments : Family Browser (UCSC)RGN
Gene fusions - Rearrangements
Fusion : QuiverRGN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRGN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RGN
dbVarRGN
ClinVarRGN
MonarchRGN
1000_GenomesRGN 
Exome Variant ServerRGN
GNOMAD BrowserENSG00000130988
Varsome BrowserRGN
Genetic variants : HAPMAP9104
Genomic Variants (DGV)RGN [DGVbeta]
DECIPHERRGN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRGN 
Mutations
ICGC Data PortalRGN 
TCGA Data PortalRGN 
Broad Tumor PortalRGN
OASIS PortalRGN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRGN  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DRGN
Mutations and Diseases : HGMDRGN
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
BioMutasearch RGN
DgiDB (Drug Gene Interaction Database)RGN
DoCM (Curated mutations)RGN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RGN (select a term)
intoGenRGN
Cancer3DRGN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300212   
Orphanet
DisGeNETRGN
MedgenRGN
Genetic Testing Registry RGN
NextProtQ15493 [Medical]
TSGene9104
GENETestsRGN
Target ValidationRGN
Huge Navigator RGN [HugePedia]
snp3D : Map Gene to Disease9104
BioCentury BCIQRGN
ClinGenRGN
Clinical trials, drugs, therapy
Protein Interactions : CTD9104
Pharm GKB GenePA34359
Clinical trialRGN
Miscellaneous
canSAR (ICR)RGN (select the gene name)
HarmonizomeRGN
DataMed IndexRGN
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRGN
EVEXRGN
GoPubMedRGN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:30:09 CEST 2020
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