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 HTR2B
Gene summary
Basic gene Info.Gene symbolHTR2B
Gene name5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled
CytomapUCSC genome browser: 2q36.3-q37.1
Type of geneprotein-coding
Description5-HT 2B receptor5-HT-2B5-hydroxytryptamine 2B receptor5-hydroxytryptamine receptor 2B5-hydroxytryptamine receptor 2B variant bserotonin receptor 2B
Modification date20141207
dbXrefs MIM : 601122
Ensembl : ENSG00000135914
HPRD : 03077
Vega : OTTHUMG00000133222
ProteinUniProt: P41595
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HTR2B
BioGPS: 3357
PathwayNCI Pathway Interaction Database: HTR2B
Pathway Commons: HTR2B
ContextiHOP: HTR2B
ligand binding site mutation search in PubMed: HTR2B
UCL Cancer Institute: HTR2B
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0001819positive regulation of cytokine production19023134
GO:0006182cGMP biosynthetic process12970106
GO:0006874cellular calcium ion homeostasis16517693
GO:0007202activation of phospholipase C activity16517693
GO:0008284positive regulation of cell proliferation15625277
GO:0010513positive regulation of phosphatidylinositol biosynthetic process19057895
GO:0014065phosphatidylinositol 3-kinase signaling16517693
GO:0042493response to drug15625277
GO:0043406positive regulation of MAP kinase activity15625277
GO:0051000positive regulation of nitric-oxide synthase activity15625277
GO:0051209release of sequestered calcium ion into cytosol15862800
GO:0070374positive regulation of ERK1 and ERK2 cascade19057895

Ligand binding site mutations for HTR2B

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 HTR2B
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 HTR2B from PDB

Differential gene expression and gene-gene network for HTR2B
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 HTR2B and the right PPI network was created from samples without mutations in the LBS of HTR2B. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for HTR2B
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0018824Heart Valve Diseases4Biomarker
umls:C0018800Cardiomegaly3AlteredExpression, Biomarker
umls:C0020542Hypertension, Pulmonary3Biomarker
umls:C3658338Drug-Related Side Effects and Adverse Reactions1Biomarker
umls:C0018801Heart Failure1Biomarker

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

Pharmacological information for HTR2B
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|investigationalDB00216EletriptanSmall molecule
ApprovedDB00247MethysergideSmall molecule
ApprovedDB00248CabergolineSmall molecule
Approved|investigationalDB00268RopiniroleSmall molecule
ApprovedDB00320DihydroergotamineSmall molecule
Approved|investigationalDB00334OlanzapineSmall molecule
ApprovedDB00370MirtazapineSmall molecule
Approved|investigationalDB00413PramipexoleSmall molecule
Approved|vet_approvedDB00508TriflupromazineSmall molecule
ApprovedDB00543AmoxapineSmall molecule
Illicit|withdrawnDB00574FenfluramineSmall molecule
ApprovedDB00589LisurideSmall molecule
Approved|investigationalDB00714ApomorphineSmall molecule
ApprovedDB00805MinaprineSmall molecule
Investigational|withdrawnDB01079TegaserodSmall molecule
ApprovedDB01142DoxepinSmall molecule
Approved|vet_approved|withdrawnDB01186PergolideSmall molecule
Approved|investigationalDB01200BromocriptineSmall molecule
Approved|withdrawnDB01239ChlorprothixeneSmall molecule
Approved|vet_approvedDB01242ClomipramineSmall molecule
Approved|vet_approvedDB01392YohimbineSmall molecule
Experimental|illicitDB014543,4-MethylenedioxymethamphetamineSmall molecule
InvestigationalDB05461OPC-28326Small molecule
InvestigationalDB05492Epicept NP-1Small molecule
ApprovedDB06016CariprazineSmall molecule
ApprovedDB06148MianserinSmall molecule
ApprovedDB06216AsenapineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HTR2B go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ERMERGOTAMINE4ib4AV136 W337 F340 L362

Conservation information for LBS of HTR2B
Multiple alignments for P41595 in multiple species
LBSAA sequence# speciesSpecies
A225FGSLAAFFAPL2Mus musculus, Rattus norvegicus
A225FGSLAAFFTPL1Homo sapiens
D135AWLFLDVLFST3Homo sapiens, Mus musculus, Rattus norvegicus
F217ERFGDFMLFGS1Homo sapiens
F217DRFGSFMVFGS1Mus musculus
F217DRFGSFMLFGS1Rattus norvegicus
F340LMWCPFFITNI1Homo sapiens
F340LMWCPFFITNL1Mus musculus
F340LMWCPFFITNV1Rattus norvegicus
G70IIPTIGGNILV2Mus musculus, Rattus norvegicus
G70IIPTIGGNTLV1Homo sapiens
I61WAALLILMVII1Homo sapiens
I61WAALLILAVII1Mus musculus
I61WAALLIFAVII1Rattus norvegicus
I66ILMVIIPTIGG1Homo sapiens
I66ILAVIIPTIGG1Mus musculus
I66IFAVIIPTIGG1Rattus norvegicus
I69VIIPTIGGNIL2Mus musculus, Rattus norvegicus
I69VIIPTIGGNTL1Homo sapiens
K211TCELTKDRFGS2Mus musculus, Rattus norvegicus
K211TCVLTKERFGD1Homo sapiens
L132LCPAWLFLDVL3Homo sapiens, Mus musculus, Rattus norvegicus
L209NITCVLTKERF1Homo sapiens
L209NVTCELTKDRF1Mus musculus
L209NITCELTKDRF1Rattus norvegicus
L347ITNITLVLCDS1Homo sapiens
L347ITNLTLALCDS1Mus musculus
L347ITNVTLALCDS1Rattus norvegicus
L362TLQMLLEIFVW1Homo sapiens
L362TLKTLLEIFVW1Mus musculus
L362TLKTLLQIFVW1Rattus norvegicus
L77NTLVILAVSLE1Homo sapiens
L77NILVILAVALE1Mus musculus
L77NILVILAVSLE1Rattus norvegicus
M218RFGDFMLFGSL1Homo sapiens
M218RFGSFMVFGSL1Mus musculus
M218RFGSFMLFGSL1Rattus norvegicus
N344PFFITNITLVL1Homo sapiens
N344PFFITNLTLAL1Mus musculus
N344PFFITNVTLAL1Rattus norvegicus
Q359NQTTLQMLLEI1Homo sapiens
Q359NQTTLKTLLEI1Mus musculus
Q359NQTTLKTLLQI1Rattus norvegicus
S139LDVLFSTASIM3Homo sapiens, Mus musculus, Rattus norvegicus
T210ITCVLTKERFG1Homo sapiens
T210VTCELTKDRFG1Mus musculus
T210ITCELTKDRFG1Rattus norvegicus
T73TIGGNILVILA2Mus musculus, Rattus norvegicus
T73TIGGNTLVILA1Homo sapiens
V136WLFLDVLFSTA3Homo sapiens, Mus musculus, Rattus norvegicus
V208NNITCVLTKER1Homo sapiens
V208HNVTCELTKDR1Mus musculus
V208HNITCELTKDR1Rattus norvegicus
V348TNITLVLCDSC1Homo sapiens
V348TNLTLALCDSC1Mus musculus
V348TNVTLALCDSC1Rattus norvegicus
W337LFLLMWCPFFI2Homo sapiens, Mus musculus
W337FFLLMWCPFFI1Rattus norvegicus
Y370FVWIGYVSSGV2Homo sapiens, Mus musculus
Y370FVWVGYVSSGV1Rattus norvegicus
Y394EAFGRYITCNY2Mus musculus, Rattus norvegicus
Y394DAFGRYITCNY1Homo sapiens
Y53Homo sapiens, Mus musculus, Rattus norvegicus

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