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mutLBSgeneDB |
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| Gene summary for HCRTR2 |
 Gene summary |
| Basic gene Info. | Gene symbol | HCRTR2 |
| Gene name | hypocretin (orexin) receptor 2 | |
| Synonyms | OX2R | |
| Cytomap | UCSC genome browser: 6p12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001526.3, | |
| Description | hypocretin receptor type 2orexin receptor type 2orexin type-2 receptorox-2-Rox2-R | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602393 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137252 | ||
| HPRD : 08374 | ||
| Vega : OTTHUMG00000016150 | ||
| Protein | UniProt: O43614 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HCRTR2 | |
| BioGPS: 3062 | ||
| Pathway | NCI Pathway Interaction Database: HCRTR2 | |
| KEGG: HCRTR2 | ||
| REACTOME: HCRTR2 | ||
| Pathway Commons: HCRTR2 | ||
| Context | iHOP: HCRTR2 | |
| ligand binding site mutation search in PubMed: HCRTR2 | ||
| UCL Cancer Institute: HCRTR2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| 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 HCRTR2 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T111 | L112M | HNSC | 1 | W120 | E118Q | LUAD | 1 | V136 | V136L | LUAD | 1 | T111 | L112Q | LUAD | 1 | I320 | P319Q | LUAD | 1 | F227 | F227L | LUSC | 1 | T111 | T111S | SKCM | 1 | P131 | P131S | SKCM | 1 | H350 | H350Y | STAD | 1 | H224 | Y223H | UCEC | 1 | A110 | P109S | UCEC | 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 HCRTR2 |
| 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 | T111 | T111S | -1.6541184 | H224 | Y223H | -1.2370349 | I320 | P319Q | -1.1655777 | P131 | P131S | -1.1599679 | T111 | L112Q | -1.1595746 | T111 | L112M | -0.90262753 | W120 | E118Q | -0.85995461 | A110 | P109S | -0.74600355 | V136 | V136L | -0.63274043 | F227 | F227L | -0.40832339 | H350 | H350Y | -0.19212385 |
| (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 HCRTR2 from PDB |
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| Differential gene expression and gene-gene network for HCRTR2 |
| 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 HCRTR2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027404 | Narcolepsy | 6 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HCRTR2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB09034 | Suvorexant | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HCRTR2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SUV | SUVOREXANT | [(7R)-4-(5-CHLORO-1,3-BENZOXAZOL-2-YL)-7-METHYL-1,4- DIAZEPAN-1-YL][5-METHYL-2-(2H-1,2,3-TRIAZOL-2-YL) PHENYL]METHANONE | 4rnb | A | A110 T111 W120 P131 H224 F227 I320 H350 | SUV | SUVOREXANT | [(7R)-4-(5-CHLORO-1,3-BENZOXAZOL-2-YL)-7-METHYL-1,4- DIAZEPAN-1-YL][5-METHYL-2-(2H-1,2,3-TRIAZOL-2-YL) PHENYL]METHANONE | 4s0v | A | A110 T111 W120 P131 H224 F227 I320 H350 |
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| Conservation information for LBS of HCRTR2 |
| Multiple alignments for O43614 in multiple species |
| LBS | AA sequence | # species | Species | A110 | ITCLPATLVVD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | E212 | FTVCDERWGGE | 3 | Homo sapiens, Rattus norvegicus, Canis lupus familiaris | E212 | FTVCDEHWGGE | 1 | Mus musculus | F227 | MYHICFFLVTY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | H224 | YPKMYHICFFL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | H350 | WFTFSHWLVYA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | I130 | SLCKVIPYLQT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | I320 | ICYLPISILNV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | N324 | PISILNVLKRV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | P131 | LCKVIPYLQTV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Q134 | VIPYLQTVSVS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Q187 | IIMIPQAIVME | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | T111 | TCLPATLVVDI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | T135 | IPYLQTVSVSV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | V114 | PATLVVDITET | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | V136 | PYLQTVSVSVS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | W120 | DITETWFFGQS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Y317 | VFAICYLPISI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris | Y354 | SHWLVYANSAA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris |
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