mutLBSgeneDB |
Gene summary for RARB |
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Basic gene Info. | Gene symbol | RARB |
Gene name | retinoic acid receptor, beta | |
Synonyms | HAP|MCOPS12|NR1B2|RRB2 | |
Cytomap | UCSC genome browser: 3p24.2 | |
Type of gene | protein-coding | |
RefGenes | NM_000965.4, NM_001290216.1,NM_001290217.1,NM_001290266.1,NM_001290276.1, NM_001290277.1,NM_001290300.1,NM_016152.3,NR_110892.1, NR_110893.1, | |
Description | HBV-activated proteinRAR-betaRAR-epsilonhepatitis B virus activated proteinnuclear receptor subfamily 1 group B member 2retinoic acid receptor betaretinoic acid receptor, beta polypeptide | |
Modification date | 20141207 | |
dbXrefs | MIM : 180220 | |
HGNC : HGNC | ||
Ensembl : ENSG00000077092 | ||
HPRD : 07183 | ||
Vega : OTTHUMG00000130480 | ||
Protein | UniProt: P10826 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RARB | |
BioGPS: 5915 | ||
Pathway | NCI Pathway Interaction Database: RARB | |
KEGG: RARB | ||
REACTOME: RARB | ||
Pathway Commons: RARB | ||
Context | iHOP: RARB | |
ligand binding site mutation search in PubMed: RARB | ||
UCL Cancer Institute: RARB | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for RARB |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
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LBS | AAchange of nsSNV | Cancer type | # samples | D127 | K128N | BLCA | 1 | L409 | L409V | BLCA | 1 | R276 | T278A | COAD | 1 | C140 | Q141E | COAD | 1 | E62 | T63A | COAD | 1 | I270 | L271R | HNSC | 1 | P408 | P408H | LUAD | 1 | R394 | R394P | STAD | 1 | F249 | T250A | STAD | 1 | C143 | Y142S | STAD | 1 | I254 | A255T | STAD | 1 | C140 | R139Q | 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 RARB |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | I254 | A255T | -1.4805283 | D127 | K128N | -1.3523154 | E62 | T63A | -1.3507575 | C140 | Q141E | -1.3198812 | I270 | L271R | -1.3138079 | C140 | R139Q | -1.2275885 | R276 | T278A | -1.1160216 | L409 | L409V | -0.96258638 | P408 | P408H | -0.92037283 | R394 | R394P | -0.77466933 | C143 | Y142S | -0.6667526 | F249 | T250A | -0.23057925 |
(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) |
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Differential gene expression and gene-gene network for RARB |
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Phenotype information for RARB |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0007137 | Carcinoma, Squamous Cell | 13 | AlteredExpression, Biomarker, PostTranslationalModification |
umls:C1458155 | Breast Neoplasms | 8 | AlteredExpression, Biomarker, PostTranslationalModification, Therapeutic |
umls:C0024121 | Lung Neoplasms | 6 | AlteredExpression, Biomarker |
umls:C0018671 | Head and Neck Neoplasms | 2 | Biomarker |
umls:C0001418 | Adenocarcinoma | 2 | Biomarker |
umls:C0038356 | Stomach Neoplasms | 2 | Biomarker |
umls:C3809803 | MICROPHTHALMIA, SYNDROMIC 12 | 1 | GeneticVariation |
umls:C0014175 | Endometriosis | 1 | Biomarker |
umls:C0149940 | Sciatic Neuropathy | 1 | Biomarker |
umls:C0007873 | Uterine Cervical Neoplasms | 1 | Biomarker |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for RARB |
![]() 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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Drug status | DrugBank ID | Name | Type | Drug structure |
Approved | DB00210 | Adapalene | Small molecule | ![]() |
Approved | DB00459 | Acitretin | Small molecule | ![]() |
Approved|investigational | DB00523 | Alitretinoin | Small molecule | ![]() |
Approved|investigational | DB00799 | Tazarotene | Small molecule | ![]() |
Withdrawn | DB00926 | Etretinate | Small molecule | ![]() |
Experimental | DB02877 | TTNPB | Small molecule | ![]() |
Approved|investigational | DB04942 | Tamibarotene | Small molecule | ![]() |
Investigational | DB05785 | LGD-1550 | Small molecule | ![]() |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of RARB |
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LBS | AA sequence | # species | Species | A232 | KFSELATKCII | 3 | Homo sapiens, Gallus gallus, Mus musculus | A232 | KFSELSTKCII | 1 | Danio rerio | C124 | NMIYTCHRDKN | 2 | Homo sapiens, Mus musculus | C124 | NMVYTCHRDKN | 2 | Danio rerio, Gallus gallus | C130 | HRDKNCVINKV | 3 | Homo sapiens, Gallus gallus, Mus musculus | C130 | HRDKNCQINKV | 1 | Danio rerio | C140 | VTRNRCQYCRL | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | C143 | NRCQYCRLQKC | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | C235 | ELATKCIIKIV | 3 | Homo sapiens, Gallus gallus, Mus musculus | C235 | ELSTKCIIKIV | 1 | Danio rerio | D127 | YTCHRDKNCVI | 3 | Homo sapiens, Gallus gallus, Mus musculus | D127 | YTCHRDKNCQI | 1 | Danio rerio | E412 | PPLIQEMLENS | 3 | Homo sapiens, Gallus gallus, Mus musculus | E412 | PPLIREMLENP | 1 | Danio rerio | E415 | IQEMLENSEGH | 3 | Homo sapiens, Gallus gallus, Mus musculus | E415 | IREMLENPEAF | 1 | Danio rerio | E62 | ----VETQSTS | 2 | Danio rerio, Gallus gallus | E62 | ----IETQSTS | 1 | Homo sapiens | E62 | LNAAIETQSTS | 1 | Mus musculus | F199 | AHQETFPSLCQ | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | F228 | GLWDKFSELAT | 3 | Homo sapiens, Gallus gallus, Mus musculus | F228 | GLWDKFSELST | 1 | Danio rerio | F249 | KRLPGFTGLTI | 2 | Homo sapiens, Mus musculus | F249 | KRLPGFTTLTI | 1 | Danio rerio | F249 | KRLPGFTSLTI | 1 | Gallus gallus | F286 | QDTMTFSDGLT | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | F302 | MHNAGFGPLTD | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | G301 | QMHNAGFGPLT | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | G391 | SISAKGAERVI | 3 | Homo sapiens, Gallus gallus, Mus musculus | G391 | GISTKGAERAI | 1 | Danio rerio | I254 | FTGLTIADQIT | 2 | Homo sapiens, Mus musculus | I254 | FTTLTIADQIT | 1 | Danio rerio | I254 | FTSLTIADQIT | 1 | Gallus gallus | I258 | TIADQITLLKA | 3 | Homo sapiens, Gallus gallus, Mus musculus | I258 | TIADQITLLKS | 1 | Danio rerio | I270 | CLDILILRICT | 3 | Homo sapiens, Gallus gallus, Mus musculus | I270 | CLDILMLRICT | 1 | Danio rerio | I273 | ILILRICTRYT | 3 | Homo sapiens, Gallus gallus, Mus musculus | I273 | ILMLRICTRYT | 1 | Danio rerio | I410 | SMPPLIQEMLE | 3 | Homo sapiens, Gallus gallus, Mus musculus | I410 | PMPPLIREMLE | 1 | Danio rerio | K244 | IVEFAKRLPGF | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | K262 | QITLLKAACLD | 3 | Homo sapiens, Gallus gallus, Mus musculus | K262 | QITLLKSACLD | 1 | Danio rerio | L231 | DKFSELATKCI | 3 | Homo sapiens, Gallus gallus, Mus musculus | L231 | DKFSELSTKCI | 1 | Danio rerio | L261 | DQITLLKAACL | 3 | Homo sapiens, Gallus gallus, Mus musculus | L261 | DQITLLKSACL | 1 | Danio rerio | L266 | LKAACLDILIL | 3 | Homo sapiens, Gallus gallus, Mus musculus | L266 | LKSACLDILML | 1 | Danio rerio | L269 | ACLDILILRIC | 3 | Homo sapiens, Gallus gallus, Mus musculus | L269 | ACLDILMLRIC | 1 | Danio rerio | L305 | AGFGPLTDLVF | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | L319 | NQLLPLEMDDT | 3 | Homo sapiens, Gallus gallus, Mus musculus | L319 | GQLLPLEMDDT | 1 | Danio rerio | L398 | ERVITLKMEIP | 3 | Homo sapiens, Gallus gallus, Mus musculus | L398 | ERAITLKMEIP | 1 | Danio rerio | L409 | GSMPPLIQEML | 3 | Homo sapiens, Gallus gallus, Mus musculus | L409 | GPMPPLIREML | 1 | Danio rerio | L414 | LIQEMLENSEG | 3 | Homo sapiens, Gallus gallus, Mus musculus | L414 | LIREMLENPEA | 1 | Danio rerio | M413 | PLIQEMLENSE | 3 | Homo sapiens, Gallus gallus, Mus musculus | M413 | PLIREMLENPE | 1 | Danio rerio | P408 | PGSMPPLIQEM | 3 | Homo sapiens, Gallus gallus, Mus musculus | P408 | PGPMPPLIREM | 1 | Danio rerio | Q257 | LTIADQITLLK | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | Q411 | MPPLIQEMLEN | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q411 | MPPLIREMLEN | 1 | Danio rerio | R126 | IYTCHRDKNCV | 2 | Homo sapiens, Mus musculus | R126 | VYTCHRDKNCQ | 1 | Danio rerio | R126 | VYTCHRDKNCV | 1 | Gallus gallus | R276 | LRICTRYTPEQ | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | R394 | AKGAERVITLK | 3 | Homo sapiens, Gallus gallus, Mus musculus | R394 | TKGAERAITLK | 1 | Danio rerio | S287 | DTMTFSDGLTL | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | V240 | CIIKIVEFAKR | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus | V309 | PLTDLVFTFAN | 3 | Homo sapiens, Gallus gallus, Mus musculus | V309 | PLTDLVFAFAG | 1 | Danio rerio | V395 | KGAERVITLKM | 3 | Homo sapiens, Gallus gallus, Mus musculus | V395 | KGAERAITLKM | 1 | Danio rerio | W225 | LDLGLWDKFSE | 4 | Homo sapiens, Danio rerio, Gallus gallus, Mus musculus |
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