mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for RXFP2
Gene summary
Basic gene Info.Gene symbolRXFP2
Gene namerelaxin/insulin-like family peptide receptor 2
CytomapUCSC genome browser: 13q13.1
Type of geneprotein-coding
DescriptionG protein coupled receptor affecting testicular descentG-protein coupled receptor 106G-protein coupled receptor affecting testicular descentleucine-rich repeat-containing G protein-coupled receptor 8leucine-rich repeat-containing G-protein coupled rec
Modification date20141207
dbXrefs MIM : 606655
Ensembl : ENSG00000133105
HPRD : 05976
Vega : OTTHUMG00000016690
ProteinUniProt: Q8WXD0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RXFP2
BioGPS: 122042
PathwayNCI Pathway Interaction Database: RXFP2
Pathway Commons: RXFP2
ContextiHOP: RXFP2
ligand binding site mutation search in PubMed: RXFP2
UCL Cancer Institute: RXFP2
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for RXFP2.1. "Ferlin A, Pepe A, Gianesello L, Garolla A, Feng S, Giannini S, Zaccolo M, Facciolli A, Morello R, Agoulnik AI, Foresta C. Mutations in the insulin-like factor 3 receptor are associated with osteoporosis. J Bone Miner Res. 2008 May;23(5):683-93. doi: 10.1359/jbmr.080204." 18433302

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for RXFP2
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for RXFP2
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for RXFP2 from PDB

Differential gene expression and gene-gene network for RXFP2
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of RXFP2 and the right PPI network was created from samples without mutations in the LBS of RXFP2. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RXFP2
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0010417Cryptorchidism22Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for RXFP2
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of RXFP2 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of RXFP2
Multiple alignments for Q8WXD0 in multiple species
LBSAA sequence# speciesSpecies
D66RAFHCDGVDDC2Mus musculus, Canis lupus familiaris
D66RAFHCDGKDDC1Homo sapiens
D70CDGVDDCGNGA2Mus musculus, Canis lupus familiaris
D70CDGKDDCGNGA1Homo sapiens
D76CGNGADEDNCG2Mus musculus, Canis lupus familiaris
D76CGNGADEENCG1Homo sapiens
E77GNGADEDNCGD2Mus musculus, Canis lupus familiaris
E77GNGADEENCGD1Homo sapiens
F63CLPRAFHCDGV2Mus musculus, Canis lupus familiaris
F63CLPRAFHCDGK1Homo sapiens
K68FHCDGVDDCGN2Mus musculus, Canis lupus familiaris
K68FHCDGKDDCGN1Homo sapiens

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