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mutLBSgeneDB |
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| Gene summary for RXFP2 |
 Gene summary |
| Basic gene Info. | Gene symbol | RXFP2 |
| Gene name | relaxin/insulin-like family peptide receptor 2 | |
| Synonyms | GPR106|GREAT|INSL3R|LGR8|LGR8.1|RXFPR2 | |
| Cytomap | UCSC genome browser: 13q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001166058.1, NM_130806.3, | |
| Description | G 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 date | 20141207 | |
| dbXrefs | MIM : 606655 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000133105 | ||
| HPRD : 05976 | ||
| Vega : OTTHUMG00000016690 | ||
| Protein | UniProt: Q8WXD0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RXFP2 | |
| BioGPS: 122042 | ||
| Pathway | NCI Pathway Interaction Database: RXFP2 | |
| KEGG: RXFP2 | ||
| REACTOME: RXFP2 | ||
| Pathway Commons: RXFP2 | ||
| Context | iHOP: RXFP2 | |
| ligand binding site mutation search in PubMed: RXFP2 | ||
| UCL Cancer Institute: RXFP2 | ||
| Assigned class in mutLBSgeneDB | A: 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 |
| GO ID | GO Term | PubMed ID |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D76 | G74W | LUAD | 1 | D76 | G74R | SKCM | 1 | D70,K68 | D69N | SKCM | 1 |
| 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. |
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| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | D76 | G74R | 0.25656299 | D76 | G74W | 0.20688978 | K68 | D69N | -0.64475138 | D70 | D69N | -0.64475138 |
| (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 |
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| 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) |
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| Phenotype information for RXFP2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0010417 | Cryptorchidism | 22 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RXFP2 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RXFP2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of RXFP2 |
| Multiple alignments for Q8WXD0 in multiple species |
| LBS | AA sequence | # species | Species | D66 | RAFHCDGVDDC | 2 | Mus musculus, Canis lupus familiaris | D66 | RAFHCDGKDDC | 1 | Homo sapiens | D70 | CDGVDDCGNGA | 2 | Mus musculus, Canis lupus familiaris | D70 | CDGKDDCGNGA | 1 | Homo sapiens | D76 | CGNGADEDNCG | 2 | Mus musculus, Canis lupus familiaris | D76 | CGNGADEENCG | 1 | Homo sapiens | E77 | GNGADEDNCGD | 2 | Mus musculus, Canis lupus familiaris | E77 | GNGADEENCGD | 1 | Homo sapiens | F63 | CLPRAFHCDGV | 2 | Mus musculus, Canis lupus familiaris | F63 | CLPRAFHCDGK | 1 | Homo sapiens | K68 | FHCDGVDDCGN | 2 | Mus musculus, Canis lupus familiaris | K68 | FHCDGKDDCGN | 1 | Homo sapiens |
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