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NR5A2 (nuclear receptor subfamily 5 group A member 2)

Identity

Alias_namesFTF
nuclear receptor subfamily 5
Alias_symbol (synonym)FTZ-F1beta
hB1F
LRH-1
FTZ-F1
hB1F-2
B1F2
Other aliasB1F
CPF
LRH1
HGNC (Hugo) NR5A2
LocusID (NCBI) 2494
Atlas_Id 46438
Location 1q32.1  [Link to chromosome band 1q32]
Location_base_pair Starts at 200042825 and ends at 200177422 bp from pter ( according to hg38-Dec_2013)

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)NR5A2   7984
Cards
Entrez_Gene (NCBI)NR5A2  2494  nuclear receptor subfamily 5 group A member 2
AliasesB1F; B1F2; CPF; FTF; 
FTZ-F1; FTZ-F1beta; LRH-1; LRH1; hB1F-2
GeneCards (Weizmann)NR5A2
Ensembl hg19 (Hinxton)ENSG00000116833 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116833 [Gene_View]  chr1:200042825-200177422 [Contig_View]  NR5A2 [Vega]
ICGC DataPortalENSG00000116833
TCGA cBioPortalNR5A2
AceView (NCBI)NR5A2
Genatlas (Paris)NR5A2
WikiGenes2494
SOURCE (Princeton)NR5A2
Genetics Home Reference (NIH)NR5A2
Genomic and cartography
GoldenPath hg38 (UCSC)NR5A2  -     chr1:200042825-200177422 +  1q32.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NR5A2  -     1q32.1   [Description]    (hg19-Feb_2009)
EnsemblNR5A2 - 1q32.1 [CytoView hg19]  NR5A2 - 1q32.1 [CytoView hg38]
Mapping of homologs : NCBINR5A2 [Mapview hg19]  NR5A2 [Mapview hg38]
OMIM604453   
Gene and transcription
Genbank (Entrez)AB019246 AB307719 AF049102 AF112344 AF124247
RefSeq transcript (Entrez)NM_001276464 NM_003822 NM_205860
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NR5A2
Cluster EST : UnigeneHs.33446 [ NCBI ]
CGAP (NCI)Hs.33446
Alternative Splicing GalleryENSG00000116833
Gene ExpressionNR5A2 [ NCBI-GEO ]   NR5A2 [ EBI - ARRAY_EXPRESS ]   NR5A2 [ SEEK ]   NR5A2 [ MEM ]
Gene Expression Viewer (FireBrowse)NR5A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2494
GTEX Portal (Tissue expression)NR5A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00482   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00482  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00482
Splice isoforms : SwissVarO00482
PhosPhoSitePlusO00482
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)NR5_fam    Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Conserved Domain (NCBI)NR5A2
DMDM Disease mutations2494
Blocks (Seattle)NR5A2
PDB (SRS)1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
PDB (PDBSum)1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
PDB (IMB)1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
PDB (RSDB)1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
Structural Biology KnowledgeBase1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
SCOP (Structural Classification of Proteins)1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
CATH (Classification of proteins structures)1YOK    1YUC    1ZDU    2A66    3PLZ    3TX7    4DOR    4DOS    4IS8    4ONI    4PLD    4PLE    4RWV    5L0M    5L11    5SYZ   
SuperfamilyO00482
Human Protein AtlasENSG00000116833
Peptide AtlasO00482
HPRD06830
IPIIPI00011769   IPI00217284   IPI00217285   IPI01009507   IPI00647189   IPI00979228   IPI01008715   
Protein Interaction databases
DIP (DOE-UCLA)O00482
IntAct (EBI)O00482
FunCoupENSG00000116833
BioGRIDNR5A2
STRING (EMBL)NR5A2
ZODIACNR5A2
Ontologies - Pathways
QuickGOO00482
Ontology : AmiGOtranscription regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  chromatin binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  phospholipid binding  nucleus  nucleoplasm  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  bile acid metabolic process  zinc ion binding  hormone-mediated signaling pathway  embryo development  tissue development  intracellular receptor signaling pathway  epithelial cell differentiation  regulation of cell proliferation  homeostatic process  cholesterol homeostasis  steroid hormone mediated signaling pathway  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of viral genome replication  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  pancreas morphogenesis  RNA polymerase II transcription factor complex  RNA polymerase II transcription factor complex  
Ontology : EGO-EBItranscription regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  chromatin binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  steroid hormone receptor activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  phospholipid binding  nucleus  nucleoplasm  cytoplasm  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  transcription initiation from RNA polymerase II promoter  bile acid metabolic process  zinc ion binding  hormone-mediated signaling pathway  embryo development  tissue development  intracellular receptor signaling pathway  epithelial cell differentiation  regulation of cell proliferation  homeostatic process  cholesterol homeostasis  steroid hormone mediated signaling pathway  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of viral genome replication  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  pancreas morphogenesis  RNA polymerase II transcription factor complex  RNA polymerase II transcription factor complex  
Pathways : KEGGMaturity onset diabetes of the young   
NDEx NetworkNR5A2
Atlas of Cancer Signalling NetworkNR5A2
Wikipedia pathwaysNR5A2
Orthology - Evolution
OrthoDB2494
GeneTree (enSembl)ENSG00000116833
Phylogenetic Trees/Animal Genes : TreeFamNR5A2
HOVERGENO00482
HOGENOMO00482
Homologs : HomoloGeneNR5A2
Homology/Alignments : Family Browser (UCSC)NR5A2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNR5A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR5A2
dbVarNR5A2
ClinVarNR5A2
1000_GenomesNR5A2 
Exome Variant ServerNR5A2
ExAC (Exome Aggregation Consortium)NR5A2 (select the gene name)
Genetic variants : HAPMAP2494
Genomic Variants (DGV)NR5A2 [DGVbeta]
DECIPHERNR5A2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNR5A2 
Mutations
ICGC Data PortalNR5A2 
TCGA Data PortalNR5A2 
Broad Tumor PortalNR5A2
OASIS PortalNR5A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNR5A2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNR5A2
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 NR5A2
DgiDB (Drug Gene Interaction Database)NR5A2
DoCM (Curated mutations)NR5A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NR5A2 (select a term)
intoGenNR5A2
Cancer3DNR5A2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604453   
Orphanet
MedgenNR5A2
Genetic Testing Registry NR5A2
NextProtO00482 [Medical]
TSGene2494
GENETestsNR5A2
Target ValidationNR5A2
Huge Navigator NR5A2 [HugePedia]
snp3D : Map Gene to Disease2494
BioCentury BCIQNR5A2
ClinGenNR5A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2494
Chemical/Pharm GKB GenePA31765
Clinical trialNR5A2
Miscellaneous
canSAR (ICR)NR5A2 (select the gene name)
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNR5A2
EVEXNR5A2
GoPubMedNR5A2
iHOPNR5A2
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 25 19:22:40 CEST 2017

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