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 PROC
Gene summary
Basic gene Info.Gene symbolPROC
Gene nameprotein C (inactivator of coagulation factors Va and VIIIa)
CytomapUCSC genome browser: 2q13-q14
Type of geneprotein-coding
Descriptionanticoagulant protein Cautoprothrombin IIAblood coagulation factor XIVprepro-protein Cvitamin K-dependent protein C
Modification date20141207
dbXrefs MIM : 612283
Ensembl : ENSG00000115718
HPRD : 01466
Vega : OTTHUMG00000131528
ProteinUniProt: P04070
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PROC
BioGPS: 5624
PathwayNCI Pathway Interaction Database: PROC
Pathway Commons: PROC
ContextiHOP: PROC
ligand binding site mutation search in PubMed: PROC
UCL Cancer Institute: PROC
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for PROC
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.

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 PROC
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 PROC from PDB

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


Phenotype information for PROC
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0398625Protein C Deficiency18AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0040053Thrombosis11Biomarker, GeneticVariation
umls:C0042487Venous Thrombosis10Biomarker, GeneticVariation
umls:C0243026Sepsis7AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C1861172Venous Thromboembolism6AlteredExpression, Biomarker, GeneticVariation, Therapeutic
umls:C0040038Thromboembolism4Biomarker, GeneticVariation
umls:C0085650Purpura Fulminans2Biomarker, GeneticVariation
umls:C2930896Congenital thrombotic disease, due to Protein C deficiency1Biomarker
umls:C0012739Disseminated Intravascular Coagulation1Biomarker

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

Pharmacological information for PROC
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|nutraceuticalDB00170MenadioneSmall molecule
ApprovedDB00464Sodium Tetradecyl SulfateSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PROC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of PROC
Multiple alignments for P04070 in multiple species
LBSAA sequence# speciesSpecies
A397GDRQDACEGDS1Homo sapiens
A397GDTRDACDGDS1Rattus norvegicus
A397GDSRDACEGDS1Canis lupus familiaris
A43RIRKRANSFLE2Homo sapiens, Canis lupus familiaris
A43RVR-RANSFLE1Rattus norvegicus
C398DRQDACEGDSG1Homo sapiens
C398DTRDACDGDSG1Rattus norvegicus
C398DSRDACEGDSG1Canis lupus familiaris
C426SWGEGCGLLHN1Homo sapiens
C426SWGEGCGHLNN1Rattus norvegicus
C426SWGEGCGRLHN1Canis lupus familiaris
D269RLGEYDLRRWE2Homo sapiens, Canis lupus familiaris
D269RLGEYDLRRRD1Rattus norvegicus
D393AGILGDRQDAC1Homo sapiens
D393AGIIGDTRDAC1Rattus norvegicus
D393AGILGDSRDAC1Canis lupus familiaris
D396LGDRQDACEGD1Homo sapiens
D396IGDTRDACDGD1Rattus norvegicus
D396LGDSRDACEGD1Canis lupus familiaris
D401DACEGDSGGPM2Homo sapiens, Canis lupus familiaris
D401DACDGDSGGPM1Rattus norvegicus
E267LVRLGEYDLRR1Homo sapiens
E267TVRLGEYDLRR1Rattus norvegicus
E267IVRLGEYDLRR1Canis lupus familiaris
E277RWEKWELDLDI1Homo sapiens
E277RRDPWELDLDI1Rattus norvegicus
E277RWEKGEMDVDI1Canis lupus familiaris
E399RQDACEGDSGG1Homo sapiens
E399TRDACDGDSGG1Rattus norvegicus
E399SRDACEGDSGG1Canis lupus familiaris
E424LVSWGEGCGLL1Homo sapiens
E424LVSWGEGCGHL1Rattus norvegicus
E424LVSWGEGCGRL1Canis lupus familiaris
E48ANSFLEELRHS1Homo sapiens
E48ANSFLEEVRAG1Rattus norvegicus
E48ANSFLEEIRAG1Canis lupus familiaris
E49NSFLEELRHSS1Homo sapiens
E49NSFLEEVRAGS1Rattus norvegicus
E49NSFLEEIRAGS1Canis lupus familiaris
E58GSLERECMEEI2Rattus norvegicus, Canis lupus familiaris
E58SSLERECIEEI1Homo sapiens
E62RECMEEICDFE2Rattus norvegicus, Canis lupus familiaris
E62RECIEEICDFE1Homo sapiens
E67EICDFEEAKEI2Homo sapiens, Canis lupus familiaris
E67EICDFEEAQEI1Rattus norvegicus
E68ICDFEEAKEIF2Homo sapiens, Canis lupus familiaris
E68ICDFEEAQEIF1Rattus norvegicus
E71FEEAKEIFQNV2Homo sapiens, Canis lupus familiaris
E71FEEAQEIFQNV1Rattus norvegicus
G400QDACEGDSGGP1Homo sapiens
G400RDACDGDSGGP1Rattus norvegicus
G400RDACEGDSGGP1Canis lupus familiaris
G423GLVSWGEGCGL1Homo sapiens
G423GLVSWGEGCGH1Rattus norvegicus
G423GLVSWGEGCGR1Canis lupus familiaris
G425VSWGEGCGLLH1Homo sapiens
G425VSWGEGCGHLN1Rattus norvegicus
G425VSWGEGCGRLH1Canis lupus familiaris
H253VLTAAHCMDES1Homo sapiens
H253VLTAAHCLESS1Rattus norvegicus
H253VLTAAHCMEDS1Canis lupus familiaris
I390MLCAGILGDRQ1Homo sapiens
I390MLCAGIIGDTR1Rattus norvegicus
I390MLCAGILGDSR1Canis lupus familiaris
L391LCAGILGDRQD1Homo sapiens
L391LCAGIIGDTRD1Rattus norvegicus
L391LCAGILGDSRD1Canis lupus familiaris
L428GEGCGLLHNYG1Homo sapiens
L428GEGCGHLNNYG1Rattus norvegicus
L428GEGCGRLHNYG1Canis lupus familiaris
N379SEVMSNMVSEN1Homo sapiens
N379MQVMNNVVSEN1Rattus norvegicus
N379IQAMYNMISEN1Canis lupus familiaris
N431CGLLHNYGVYT1Homo sapiens
N431CGHLNNYGVYT1Rattus norvegicus
N431CGRLHNYGIYT1Canis lupus familiaris
N44IRKRANSFLEE2Homo sapiens, Canis lupus familiaris
N44VR-RANSFLEE1Rattus norvegicus
R272EYDLRRWEKWE1Homo sapiens
R272EYDLRRRDPWE1Rattus norvegicus
R272EYDLRRWEKGE1Canis lupus familiaris
S402ACEGDSGGPMV2Homo sapiens, Canis lupus familiaris
S402ACDGDSGGPMV1Rattus norvegicus
S421LVGLVSWGEGC3Homo sapiens, Rattus norvegicus, Canis lupus familiaris
T295NYSKSTTDNDI2Homo sapiens, Canis lupus familiaris
T295NYTRSNSDNDI1Rattus norvegicus
T296YSKSTTDNDIA2Homo sapiens, Canis lupus familiaris
T296YTRSNSDNDIA1Rattus norvegicus
W273YDLRRWEKWEL1Homo sapiens
W273YDLRRRDPWEL1Rattus norvegicus
W273YDLRRWEKGEM1Canis lupus familiaris
W422VGLVSWGEGCG3Homo sapiens, Rattus norvegicus, Canis lupus familiaris

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