mutLBSgeneDB

mutLBSgeneDB
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 PCTP
Gene summary
Basic gene Info.Gene symbolPCTP
Gene namephosphatidylcholine transfer protein
SynonymsPC-TP|STARD2
CytomapUCSC genome browser: 17q21-q24
Type of geneprotein-coding
RefGenesNM_001102402.2,
NM_021213.3,
DescriptionSTART domain-containing protein 2StAR-related lipid transfer (START) domain containing 2stAR-related lipid transfer protein 2
Modification date20141207
dbXrefs MIM : 606055
HGNC : HGNC
Ensembl : ENSG00000141179
HPRD : 06927
Vega : OTTHUMG00000177859
ProteinUniProt: Q9UKL6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PCTP
BioGPS: 58488
PathwayNCI Pathway Interaction Database: PCTP
KEGG: PCTP
REACTOME: PCTP
Pathway Commons: PCTP
ContextiHOP: PCTP
ligand binding site mutation search in PubMed: PCTP
UCL Cancer Institute: PCTP
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0015914phospholipid transport12055623


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Ligand binding site mutations for PCTP

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A192A192TCOAD1
Y175D177YCOAD1
W101Y100HCOAD1
Y114R112GHNSC1
Y84Q83RSKCM1
M173,Y175Y174NUCEC1
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 PCTP
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
Y175Y174N-1.7857112
M173Y174N-1.7857112
Y114R112G-1.2933668
A192A192T-1.2751989
Y84Q83R-1.167794
W101Y100H-1.1232009
Y175D177Y-0.46771687
(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 PCTP from PDB

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


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Phenotype information for PCTP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for PCTP
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
ExperimentalDB02306Palmitoyl-Linoleoyl PhosphatidylcholineSmall molecule
ExperimentalDB04372Di-Linoleoyl-3-Sn-PhosphatidylcholineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PCTP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CPL1-PALMITOYL-2-LINOLEOYL-SN-GLYCERO-3-PHOSPHOCHOLINE1ln3AY84 W101 Y114 M173 Y175
CPL1-PALMITOYL-2-LINOLEOYL-SN-GLYCERO-3-PHOSPHOCHOLINE1ln3BY84 W101 Y114 M173 Y175
DLP(1,2-DILINOLEOYL)-3-LECITHIN1ln1AY84 W101 Y114 M173 Y175 A192
DLP(1,2-DILINOLEOYL)-3-LECITHIN1ln2AY84 W101 Y114 M173 Y175 A192
DLP(1,2-DILINOLEOYL)-3-LECITHIN1ln2BY84 W101 Y114 M173 Y175 A192


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Conservation information for LBS of PCTP
Multiple alignments for Q9UKL6 in multiple species
LBSAA sequence# speciesSpecies
A191WLINWAAKNGV2Homo sapiens, Rattus norvegicus
A191WVINWAAKNGV1Bos taurus
A192LINWAAKNGVP2Homo sapiens, Rattus norvegicus
A192VINWAAKNGVP1Bos taurus
F199NGVPNFLKDMA1Homo sapiens
F199NGVPSFLKDMV1Rattus norvegicus
F199NGVPNFLKDMV1Bos taurus
I41TSGISIYRLLD1Homo sapiens
I41ASGITIYRLLD1Rattus norvegicus
I41TQGISVYRLLD1Bos taurus
L159QYKQSLAIESD2Homo sapiens, Rattus norvegicus
L159HYKQRLAIQSD1Bos taurus
L200GVPNFLKDMAR1Homo sapiens
L200GVPSFLKDMVK1Rattus norvegicus
L200GVPNFLKDMVK1Bos taurus
L33ADWQLLVETSG1Homo sapiens
L33ADWQLLVEASG1Rattus norvegicus
L33AAWELLVETQG1Bos taurus
L60KVFGVLEDCSP1Homo sapiens
L60KVFGVLESCIP1Rattus norvegicus
L60KVFGVLEDCLP1Bos taurus
L68CSPTLLADIYM1Homo sapiens
L68CIPSLLADVYM1Rattus norvegicus
L68CLPDLLADVYM1Bos taurus
M173GSKVFMYYFDN2Homo sapiens, Bos taurus
M173GSRVFMYYFDN1Rattus norvegicus
M203NFLKDMARACQ1Homo sapiens
M203SFLKDMVKACQ1Rattus norvegicus
M203NFLKDMVKACQ1Bos taurus
Q157VKQYKQSLAIE2Homo sapiens, Rattus norvegicus
Q157VKHYKQRLAIQ1Bos taurus
R78MDSDYRKQWDQ1Homo sapiens
R78MDLDYRKKWDQ1Rattus norvegicus
R78MDLAYRKQWDQ1Bos taurus
V103VVYWEVKYPFP1Homo sapiens
V103VAYWEVKYPFP1Rattus norvegicus
V103VVYWQVKYPFP1Bos taurus
V171KKGSKVFMYYF1Homo sapiens
V171KKGSRVFMYYF1Rattus norvegicus
V171KRGSKVFMYYF1Bos taurus
V196AAKNGVPNFLK2Homo sapiens, Bos taurus
V196AAKNGVPSFLK1Rattus norvegicus
V34DWQLLVETSGI1Homo sapiens
V34DWQLLVEASGI1Rattus norvegicus
V34AWELLVETQGI1Bos taurus
V56LYEYKVFGVLE2Homo sapiens, Rattus norvegicus
V56LYAYKVFGVLE1Bos taurus
W101ETVVYWEVKYP1Homo sapiens
W101QMVAYWEVKYP1Rattus norvegicus
W101ETVVYWQVKYP1Bos taurus
W190SWLINWAAKNG2Homo sapiens, Rattus norvegicus
W190SWVINWAAKNG1Bos taurus
Y105YWEVKYPFPMS1Homo sapiens
Y105YWEVKYPFPLS1Rattus norvegicus
Y105YWQVKYPFPMS1Bos taurus
Y114MSNRDYVYLRQ1Homo sapiens
Y114LSNRDYVYTRQ1Rattus norvegicus
Y114MSNRDYVYVRQ1Bos taurus
Y116NRDYVYLRQRR1Homo sapiens
Y116NRDYVYTRQRR1Rattus norvegicus
Y116NRDYVYVRQRQ1Bos taurus
Y155IRVKQYKQSLA2Homo sapiens, Rattus norvegicus
Y155IRVKHYKQRLA1Bos taurus
Y175KVFMYYFDNPG2Homo sapiens, Bos taurus
Y175RVFMYYFDNPG1Rattus norvegicus
Y54TGLYEYKVFGV2Homo sapiens, Rattus norvegicus
Y54TGLYAYKVFGV1Bos taurus
Y72LLADIYMDSDY1Homo sapiens
Y72LLADVYMDLDY1Rattus norvegicus
Y72LLADVYMDLAY1Bos taurus
Y84KQWDQYVKELY2Homo sapiens, Bos taurus
Y84KKWDQYVKELY1Rattus norvegicus


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