Atlas of Genetics and Cytogenetics in Oncology and Haematology

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RXFP2 (relaxin/insulin like family peptide receptor 2)

Identity

Alias_namesLGR8
leucine-rich repeat-containing G protein-coupled receptor 8
Alias_symbol (synonym)GREAT
GPR106
INSL3R
RXFPR2
Other aliasLGR8.1
HGNC (Hugo) RXFP2
LocusID (NCBI) 122042
Atlas_Id 52389
Location 13q13.1  [Link to chromosome band 13q13]
Location_base_pair Starts at 31739543 and ends at 31802872 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)RXFP2   17318
Cards
Entrez_Gene (NCBI)RXFP2  122042  relaxin/insulin like family peptide receptor 2
AliasesGPR106; GREAT; INSL3R; LGR8; 
LGR8.1; RXFPR2
GeneCards (Weizmann)RXFP2
Ensembl hg19 (Hinxton)ENSG00000133105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133105 [Gene_View]  chr13:31739543-31802872 [Contig_View]  RXFP2 [Vega]
ICGC DataPortalENSG00000133105
TCGA cBioPortalRXFP2
AceView (NCBI)RXFP2
Genatlas (Paris)RXFP2
WikiGenes122042
SOURCE (Princeton)RXFP2
Genetics Home Reference (NIH)RXFP2
Genomic and cartography
GoldenPath hg38 (UCSC)RXFP2  -     chr13:31739543-31802872 +  13q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RXFP2  -     13q13.1   [Description]    (hg19-Feb_2009)
EnsemblRXFP2 - 13q13.1 [CytoView hg19]  RXFP2 - 13q13.1 [CytoView hg38]
Mapping of homologs : NCBIRXFP2 [Mapview hg19]  RXFP2 [Mapview hg38]
OMIM219050   606655   
Gene and transcription
Genbank (Entrez)AF403384 AF453828 AY899851
RefSeq transcript (Entrez)NM_001166058 NM_130806
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RXFP2
Cluster EST : UnigeneHs.680763 [ NCBI ]
CGAP (NCI)Hs.680763
Alternative Splicing GalleryENSG00000133105
Gene ExpressionRXFP2 [ NCBI-GEO ]   RXFP2 [ EBI - ARRAY_EXPRESS ]   RXFP2 [ SEEK ]   RXFP2 [ MEM ]
Gene Expression Viewer (FireBrowse)RXFP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)122042
GTEX Portal (Tissue expression)RXFP2
Human Protein AtlasENSG00000133105-RXFP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXD0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXD0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXD0
Splice isoforms : SwissVarQ8WXD0
PhosPhoSitePlusQ8WXD0
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_2 (PS50262)    LDLRA_1 (PS01209)    LDLRA_2 (PS50068)    LRR (PS51450)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    L_dom-like    LDLR_class-A_CS    LDrepeatLR_classA_rpt    Leu-rich_rpt    Leu-rich_rpt_typical-subtyp    Relaxin_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)    Ldl_recept_a (PF00057)    LRR_8 (PF13855)   
Domain families : Pfam (NCBI)pfam00001    pfam00057    pfam13855   
Domain families : Smart (EMBL)LDLa (SM00192)  LRR_TYP (SM00369)  
Conserved Domain (NCBI)RXFP2
DMDM Disease mutations122042
Blocks (Seattle)RXFP2
PDB (SRS)2M96   
PDB (PDBSum)2M96   
PDB (IMB)2M96   
PDB (RSDB)2M96   
Structural Biology KnowledgeBase2M96   
SCOP (Structural Classification of Proteins)2M96   
CATH (Classification of proteins structures)2M96   
SuperfamilyQ8WXD0
Human Protein Atlas [tissue]ENSG00000133105-RXFP2 [tissue]
Peptide AtlasQ8WXD0
HPRD05976
IPIIPI00103510   IPI00654597   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXD0
IntAct (EBI)Q8WXD0
FunCoupENSG00000133105
BioGRIDRXFP2
STRING (EMBL)RXFP2
ZODIACRXFP2
Ontologies - Pathways
QuickGOQ8WXD0
Ontology : AmiGOoocyte maturation  G-protein coupled receptor activity  intracellular  plasma membrane  plasma membrane  G-protein coupled receptor signaling pathway  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  adenylate cyclase-activating G-protein coupled receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway  negative regulation of cell proliferation  male gonad development  integral component of membrane  protein-hormone receptor activity  peptide hormone binding  negative regulation of apoptotic process  positive regulation of cAMP-mediated signaling  
Ontology : EGO-EBIoocyte maturation  G-protein coupled receptor activity  intracellular  plasma membrane  plasma membrane  G-protein coupled receptor signaling pathway  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  adenylate cyclase-activating G-protein coupled receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway  negative regulation of cell proliferation  male gonad development  integral component of membrane  protein-hormone receptor activity  peptide hormone binding  negative regulation of apoptotic process  positive regulation of cAMP-mediated signaling  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkRXFP2
Atlas of Cancer Signalling NetworkRXFP2
Wikipedia pathwaysRXFP2
Orthology - Evolution
OrthoDB122042
GeneTree (enSembl)ENSG00000133105
Phylogenetic Trees/Animal Genes : TreeFamRXFP2
HOVERGENQ8WXD0
HOGENOMQ8WXD0
Homologs : HomoloGeneRXFP2
Homology/Alignments : Family Browser (UCSC)RXFP2
Gene fusions - Rearrangements
Fusion : QuiverRXFP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRXFP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RXFP2
dbVarRXFP2
ClinVarRXFP2
1000_GenomesRXFP2 
Exome Variant ServerRXFP2
ExAC (Exome Aggregation Consortium)ENSG00000133105
GNOMAD BrowserENSG00000133105
Genetic variants : HAPMAP122042
Genomic Variants (DGV)RXFP2 [DGVbeta]
DECIPHERRXFP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRXFP2 
Mutations
ICGC Data PortalRXFP2 
TCGA Data PortalRXFP2 
Broad Tumor PortalRXFP2
OASIS PortalRXFP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRXFP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRXFP2
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 RXFP2
DgiDB (Drug Gene Interaction Database)RXFP2
DoCM (Curated mutations)RXFP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RXFP2 (select a term)
intoGenRXFP2
Cancer3DRXFP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM219050    606655   
Orphanet
DisGeNETRXFP2
MedgenRXFP2
Genetic Testing Registry RXFP2
NextProtQ8WXD0 [Medical]
TSGene122042
GENETestsRXFP2
Target ValidationRXFP2
Huge Navigator RXFP2 [HugePedia]
snp3D : Map Gene to Disease122042
BioCentury BCIQRXFP2
ClinGenRXFP2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD122042
Chemical/Pharm GKB GenePA134918556
Clinical trialRXFP2
Miscellaneous
canSAR (ICR)RXFP2 (select the gene name)
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRXFP2
EVEXRXFP2
GoPubMedRXFP2
iHOPRXFP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Jun 18 19:43:32 CEST 2018
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